9-121481-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121481
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121481
    reference: chr 9
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1913C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2490C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1066C>G
  hgvsp: ENSP00000323433.10:p.Gln356Glu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1962C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.651C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.1030C>G
  hgvsp: ENSP00000366617.4:p.Gln344Glu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1117C>G
  hgvsp: ENSP00000371885.4:p.Gln373Glu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1174C>G
  hgvsp: ENSP00000348915.4:p.Gln392Glu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1806C>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6495
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11351
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln392Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

9-121482-ATCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121482
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121479
    reference: chr 9
allele count: 2
allele frequency: 1.648206751054852e-5
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.647_649delAGA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1113_1115delAGA
  hgvsp: ENSP00000371885.4:p.Glu371del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.1026_1028delAGA
  hgvsp: ENSP00000366617.4:p.Glu342del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1802_1804delAGA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1170_1172delAGA
  hgvsp: ENSP00000348915.4:p.Glu390del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2486_2488delAGA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1062_1064delAGA
  hgvsp: ENSP00000323433.10:p.Glu354del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1958_1960delAGA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1909_1911delAGA
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2874
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu390del
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: ATCT
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

9-121491-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121491
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121491
    reference: chr 9
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1056C>G
  hgvsp: ENSP00000323433.10:p.Phe352Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1107C>G
  hgvsp: ENSP00000371885.4:p.Phe369Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1164C>G
  hgvsp: ENSP00000348915.4:p.Phe388Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.1020C>G
  hgvsp: ENSP00000366617.4:p.Phe340Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1903C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.641C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2480C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1952C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1796C>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1963
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe388Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-121499-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121499
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121499
    reference: chr 9
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.633A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2472A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1156A>G
  hgvsp: ENSP00000348915.4:p.Thr386Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1944A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.1012A>G
  hgvsp: ENSP00000366617.4:p.Thr338Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1099A>G
  hgvsp: ENSP00000371885.4:p.Thr367Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1895A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1048A>G
  hgvsp: ENSP00000323433.10:p.Thr350Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1788A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr386Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-121501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121501
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121501
    reference: chr 9
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1942C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1154C>T
  hgvsp: ENSP00000348915.4:p.Thr385Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1097C>T
  hgvsp: ENSP00000371885.4:p.Thr366Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1893C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.631C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.1010C>T
  hgvsp: ENSP00000366617.4:p.Thr337Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1786C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2470C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1046C>T
  hgvsp: ENSP00000323433.10:p.Thr349Ile
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11344
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2873
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8616
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Thr385Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD

9-121503-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121503
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121503
    reference: chr 9
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1095G>C
  hgvsp: ENSP00000371885.4:p.Trp365Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1044G>C
  hgvsp: ENSP00000323433.10:p.Trp348Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.629G>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.1008G>C
  hgvsp: ENSP00000366617.4:p.Trp336Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.487G>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1152G>C
  hgvsp: ENSP00000348915.4:p.Trp384Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1784G>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1940G>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2468G>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1891G>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2875
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Trp384Cys
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-121504-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121504
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121504
    reference: chr 9
allele count: 18
allele frequency: 1.483337179022316e-4
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1939G>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1043G>T
  hgvsp: ENSP00000323433.10:p.Trp348Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.628G>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1783G>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1094G>T
  hgvsp: ENSP00000371885.4:p.Trp365Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.1007G>T
  hgvsp: ENSP00000366617.4:p.Trp336Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2467G>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1151G>T
  hgvsp: ENSP00000348915.4:p.Trp384Leu
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.486G>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1890G>T
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 9.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10883
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Trp384Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

9-121534-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121534
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121534
    reference: chr 9
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1013T>C
  hgvsp: ENSP00000323433.10:p.Ile338Thr
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1064T>C
  hgvsp: ENSP00000371885.4:p.Ile355Thr
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1121T>C
  hgvsp: ENSP00000348915.4:p.Ile374Thr
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1753T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.977T>C
  hgvsp: ENSP00000366617.4:p.Ile326Thr
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1909T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1860T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.456T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.598T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2437T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5516
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11258
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2944
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile374Thr
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

9-121536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121536
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121536
    reference: chr 9
allele count: 6
allele frequency: 4.947311136397368e-5
allele num: 121278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1062T>C
  hgvsp: ENST00000382447.4:c.1062T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1907T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2435T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.975T>C
  hgvsp: ENST00000377400.4:c.975T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1011T>C
  hgvsp: ENST00000314367.10:c.1011T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1858T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.454T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1751T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1119T>C
  hgvsp: ENST00000356521.4:c.1119T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.596T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7836
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32062
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3188
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe373Phe
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum

9-121539-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121539
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121539
    reference: chr 9
allele count: 1
allele frequency: 8.246878556466378e-6
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2432G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1116G>A
  hgvsp: ENST00000356521.4:c.1116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1008G>A
  hgvsp: ENST00000314367.10:c.1008G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1748G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1855G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1059G>A
  hgvsp: ENST00000382447.4:c.1059G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.451G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1904G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.972G>A
  hgvsp: ENST00000377400.4:c.972G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.593G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1741
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32061
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Leu372Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

9-121544-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121544
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121544
    reference: chr 9
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1850C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1003C>T
  hgvsp: ENSP00000323433.10:p.Gln335Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.446C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.967C>T
  hgvsp: ENSP00000366617.4:p.Gln323Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1111C>T
  hgvsp: ENSP00000348915.4:p.Gln371Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1054C>T
  hgvsp: ENSP00000371885.4:p.Gln352Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1899C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2427C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.588C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1743C>T
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7831
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln371Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

9-121545-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121545
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121545
    reference: chr 9
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1849A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2426A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.587A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1053A>G
  hgvsp: ENST00000382447.4:c.1053A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.1002A>G
  hgvsp: ENST00000314367.10:c.1002A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.966A>G
  hgvsp: ENST00000377400.4:c.966A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1742A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1898A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.445A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1110A>G
  hgvsp: ENST00000356521.4:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10724
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys370Lys
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

9-121550-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121550
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121550
    reference: chr 9
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1105C>T
  hgvsp: ENSP00000348915.4:p.Leu369Phe
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.997C>T
  hgvsp: ENSP00000323433.10:p.Leu333Phe
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1893C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1737C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.961C>T
  hgvsp: ENSP00000366617.4:p.Leu321Phe
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1048C>T
  hgvsp: ENSP00000371885.4:p.Leu350Phe
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.440C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1844C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2421C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.582C>T
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32065
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3187
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu369Phe
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum

9-121550-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121550
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121550
    reference: chr 9
allele count: 1
allele frequency: 8.253140319891718e-6
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1048C>A
  hgvsp: ENSP00000371885.4:p.Leu350Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.997C>A
  hgvsp: ENSP00000323433.10:p.Leu333Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2421C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1893C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1105C>A
  hgvsp: ENSP00000348915.4:p.Leu369Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.440C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1844C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.961C>A
  hgvsp: ENSP00000366617.4:p.Leu321Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1737C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.582C>A
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11166
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu369Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

9-121551-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121551
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121551
    reference: chr 9
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.960C>T
  hgvsp: ENST00000377400.4:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1047C>T
  hgvsp: ENST00000382447.4:c.1047C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2420C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1843C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.581C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.996C>T
  hgvsp: ENST00000314367.10:c.996C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1104C>T
  hgvsp: ENST00000356521.4:c.1104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1736C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.439C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1892C>T
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile368Ile
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ

9-121556-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121556
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121556
    reference: chr 9
allele count: 2
allele frequency: 1.651554938975045e-5
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.991G>A
  hgvsp: ENSP00000323433.10:p.Asp331Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2415G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1731G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.955G>A
  hgvsp: ENSP00000366617.4:p.Asp319Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1099G>A
  hgvsp: ENSP00000348915.4:p.Asp367Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1042G>A
  hgvsp: ENSP00000371885.4:p.Asp348Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1838G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.576G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.434G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1887G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11078
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp367Asn
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-121566-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121566
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121566
    reference: chr 9
allele count: 2
allele frequency: 1.653193142554845e-5
allele num: 120978
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1032T>G
  hgvsp: ENSP00000371885.4:p.Asn344Lys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2405T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1721T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1089T>G
  hgvsp: ENSP00000348915.4:p.Asn363Lys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.981T>G
  hgvsp: ENSP00000323433.10:p.Asn327Lys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.424T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.945T>G
  hgvsp: ENSP00000366617.4:p.Asn315Lys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1828T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1877T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.566T>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2878
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn363Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

9-121567-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121567
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121567
    reference: chr 9
allele count: 1180
allele frequency: 9.755936239169257e-3
allele num: 120952
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1827A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.980A>T
  hgvsp: ENSP00000323433.10:p.Asn327Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.944A>T
  hgvsp: ENSP00000366617.4:p.Asn315Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1088A>T
  hgvsp: ENSP00000348915.4:p.Asn363Ile
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1720A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.565A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1876A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.423A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2404A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1031A>T
  hgvsp: ENSP00000371885.4:p.Asn344Ile
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4301
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8448
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7706
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 9.75e1
  variant carriers: 1105
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn363Ile
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

9-121572-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121572
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121572
    reference: chr 9
allele count: 1
allele frequency: 8.273351534706709e-6
allele num: 120870
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.418C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2399C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.560C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.939C>A
  hgvsp: ENST00000377400.4:c.939C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1083C>A
  hgvsp: ENST00000356521.4:c.1083C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1715C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.975C>A
  hgvsp: ENST00000314367.10:c.975C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1871C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1026C>A
  hgvsp: ENST00000382447.4:c.1026C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1822C>A
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5411
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1083C>A
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

9-121573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121573
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121573
    reference: chr 9
allele count: 4
allele frequency: 3.30988829127017e-5
allele num: 120850
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025G>A
  hgvsp: ENSP00000371885.4:p.Gly342Asp
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974G>A
  hgvsp: ENSP00000323433.10:p.Gly325Asp
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938G>A
  hgvsp: ENSP00000366617.4:p.Gly313Asp
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082G>A
  hgvsp: ENSP00000348915.4:p.Gly361Asp
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1870G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3444
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7722
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly361Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/9-121577-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121577
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121578
    reference: chr 9
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-5dupT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1865dupT
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1082-5dupT
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum

http://identifiers.org/exac.variant/9-121582-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121582
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121582
    reference: chr 9
allele count: 1
allele frequency: 8.287201246395068e-6
allele num: 120668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-9T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1861T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-9T>G
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7702
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

9-121586-CAAAAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121586
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121581
    reference: chr 9
allele count: 7
allele frequency: 5.805467091295117e-5
allele num: 120576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-18_974-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-18_2398-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-18_417-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-18_1082-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-18_938-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-18_559-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-18_1821-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1852_1856delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-18_1025-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-18_1714-14delATTTT
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3402
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32303
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: CAAAAT
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

9-121590-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121590
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121590
    reference: chr 9
allele count: 2
allele frequency: 1.659971448491086e-5
allele num: 120484
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1853T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-17T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-17T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2612
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9894
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

9-121593-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121593
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121593
    reference: chr 9
allele count: 2
allele frequency: 1.660274609420398e-5
allele num: 120462
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1850A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-20A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-20A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1932
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4447
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

9-121596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121596
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121596
    reference: chr 9
allele count: 5
allele frequency: 4.152823920265781e-5
allele num: 120400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-23G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1847G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-23G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6374
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3405
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2613
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8279
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

9-121597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121597
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121597
    reference: chr 9
allele count: 11
allele frequency: 9.136971509261567e-5
allele num: 120390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1846C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-24C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-24C>T
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9710
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

9-121597-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121597
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121597
    reference: chr 9
allele count: 1
allele frequency: 8.306337735692333e-6
allele num: 120390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-24C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1846C>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-24C>A
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 616
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1713
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

9-121603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121603
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121603
    reference: chr 9
allele count: 1
allele frequency: 8.313795912937929e-6
allele num: 120282
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1840T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-30T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-30T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

9-121604-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121604
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121604
    reference: chr 9
allele count: 3
allele frequency: 2.49500998003992e-5
allele num: 120240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1839G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-31G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-31G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1712
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

9-121604-CATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121604
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121601
    reference: chr 9
allele count: 1
allele frequency: 8.3166999334664e-6
allele num: 120240
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-34_1821-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-34_417-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-34_1025-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1836_1838delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-34_2398-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-34_938-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-34_559-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-34_1714-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-34_1082-32delAAT
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-34_974-32delAAT
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3410
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2078
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10222
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: CATT
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

9-121611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121611
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121611
    reference: chr 9
allele count: 3
allele frequency: 2.498292833230626e-5
allele num: 120082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1832G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-38G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-38G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8978
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-121613-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121613
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121613
    reference: chr 9
allele count: 1
allele frequency: 8.3301401129567e-6
allele num: 120046
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1830A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-40A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-40A>C
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6331
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8059
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3411
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2893
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8795
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-121615-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121615
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121615
    reference: chr 9
allele count: 4
allele frequency: 3.332833408322085e-5
allele num: 120018
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1828A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-42A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-42A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7497
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

9-121618-A-AAAGGATTGGAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121618
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121629
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 119954
alternate allele: AAAGGATTGGAT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 7484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5393
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2079
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

9-121621-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121621
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121621
    reference: chr 9
allele count: 1
allele frequency: 8.341396683460679e-6
allele num: 119884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1822A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-48A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-48A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9904
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4288
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

9-121622-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121622
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121622
    reference: chr 9
allele count: 1
allele frequency: 8.343623802689983e-6
allele num: 119852
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1821C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-49C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-49C>T
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

9-121623-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121623
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121623
    reference: chr 9
allele count: 1
allele frequency: 8.345852111500584e-6
allele num: 119820
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1820T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2398-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.974-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1821-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1714-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.559-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.938-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1025-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.417-50T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1082-50T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6326
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2081
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4322
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3140
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

9-121918-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121918
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121918
    reference: chr 9
allele count: 1
allele frequency: 1.276193879374155e-5
allele num: 78358
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1024+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1081+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.416+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1525T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1713+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.937+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.558+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.973+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1820+43T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2397+43T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11601
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3958
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-121930-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121930
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121929
    reference: chr 9
allele count: 1
allele frequency: 1.180832723236426e-5
allele num: 84686
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.937+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.416+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1820+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2397+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1512delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1081+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1713+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1024+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.558+30delA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.973+30delA
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2896
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: GT
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

9-121932-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121932
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121932
    reference: chr 9
allele count: 11
allele frequency: 1.270853551458016e-4
allele num: 86556
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1024+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.973+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.416+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.558+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1820+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1511A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2397+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1081+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1713+29A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.937+29A>T
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4782
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30373
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3021
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2500
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33988
  bin: 6.25e1
  variant carriers: 0
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: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

9-121938-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121938
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121938
    reference: chr 9
allele count: 4
allele frequency: 4.350663476180117e-5
allele num: 91940
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1820+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1024+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2397+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1713+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.973+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1081+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1505T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.937+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.416+23T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.558+23T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2550
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS

9-121939-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121939
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121937
    reference: chr 9
allele count: 1
allele frequency: 1.077052323201861e-5
allele num: 92846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.973+20_973+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.416+20_416+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1081+20_1081+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1024+20_1024+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.937+20_937+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.558+20_558+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1713+20_1713+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1502_1503delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1820+20_1820+21delCA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2397+20_2397+21delCA
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: CTG
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD

9-121943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121943
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121943
    reference: chr 9
allele count: 1
allele frequency: 1.046857334282484e-5
allele num: 95524
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.973+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1820+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.558+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1713+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1500C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.416+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.937+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1081+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2397+18C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1024+18C>T
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5374
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

9-121957-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121957
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121957
    reference: chr 9
allele count: 60
allele frequency: 5.907139762926791e-4
allele num: 101572
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.416+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.558+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.973+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.937+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1820+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1486A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1024+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2397+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1713+4A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1081+4A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2646
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7727
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5763
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 38659
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: c.1081+4A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

9-121967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121967
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121967
    reference: chr 9
allele count: 1
allele frequency: 9.882008814751862e-6
allele num: 101194
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1075C>T
  hgvsp: ENSP00000348915.4:p.Leu359Phe
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2391C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1476C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1018C>T
  hgvsp: ENSP00000371885.4:p.Leu340Phe
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1707C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.552C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.410C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1814C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.967C>T
  hgvsp: ENSP00000323433.10:p.Leu323Phe
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.931C>T
  hgvsp: ENSP00000366617.4:p.Leu311Phe
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5964
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41125
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu359Phe
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

9-121975-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121975
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121975
    reference: chr 9
allele count: 27
allele frequency: 2.682296840850388e-4
allele num: 100660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2383G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1468G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1067G>A
  hgvsp: ENSP00000348915.4:p.Arg356Gln
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1806G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1699G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.923G>A
  hgvsp: ENSP00000366617.4:p.Arg308Gln
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.402G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.959G>A
  hgvsp: ENSP00000323433.10:p.Arg320Gln
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1010G>A
  hgvsp: ENSP00000371885.4:p.Arg337Gln
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3648G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.544G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2689
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1615
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33622
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4515
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg356Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

9-121978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121978
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121978
    reference: chr 9
allele count: 1
allele frequency: 9.952625502607588e-6
allele num: 100476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1007A>G
  hgvsp: ENSP00000371885.4:p.Asn336Ser
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1803A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.541A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.920A>G
  hgvsp: ENSP00000366617.4:p.Asn307Ser
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.956A>G
  hgvsp: ENSP00000323433.10:p.Asn319Ser
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.399A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1465A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2380A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1696A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1064A>G
  hgvsp: ENSP00000348915.4:p.Asn355Ser
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3645A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6003
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7554
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn355Ser
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD

9-121980-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121980
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121980
    reference: chr 9
allele count: 2
allele frequency: 1.992428770671449e-5
allele num: 100380
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.954A>C
  hgvsp: ENST00000314367.10:c.954A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.539A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1801A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1463A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1062A>C
  hgvsp: ENST00000356521.4:c.1062A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1694A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1005A>C
  hgvsp: ENST00000382447.4:c.1005A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.918A>C
  hgvsp: ENST00000377400.4:c.918A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3643A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2378A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.397A>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr354Thr
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

9-121985-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121985
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121985
    reference: chr 9
allele count: 1
allele frequency: 9.981235277677965e-6
allele num: 100188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.1000A>G
  hgvsp: ENSP00000371885.4:p.Arg334Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.534A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1689A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.913A>G
  hgvsp: ENSP00000366617.4:p.Arg305Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2373A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3638A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1796A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.949A>G
  hgvsp: ENSP00000323433.10:p.Arg317Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1057A>G
  hgvsp: ENSP00000348915.4:p.Arg353Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1458A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.392A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg353Gly
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

9-121991-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121991
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121991
    reference: chr 9
allele count: 1
allele frequency: 1.00076057803931e-5
allele num: 99924
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.528A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.907A>G
  hgvsp: ENSP00000366617.4:p.Thr303Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1790A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1683A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2367A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.943A>G
  hgvsp: ENSP00000323433.10:p.Thr315Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1051A>G
  hgvsp: ENSP00000348915.4:p.Thr351Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.994A>G
  hgvsp: ENSP00000371885.4:p.Thr332Ala
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.386A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3632A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1452A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr351Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

9-121996-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121996
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121996
    reference: chr 9
allele count: 1
allele frequency: 1.015434606011373e-5
allele num: 98480
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2362A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.938A>G
  hgvsp: ENSP00000323433.10:p.Asp313Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.523A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.902A>G
  hgvsp: ENSP00000366617.4:p.Asp301Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1447A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1785A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1678A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.989A>G
  hgvsp: ENSP00000371885.4:p.Asp330Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.381A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3627A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1046A>G
  hgvsp: ENSP00000348915.4:p.Asp349Gly
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 14567
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9875
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp349Gly
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-121997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 121997
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 121997
    reference: chr 9
allele count: 1
allele frequency: 1.016342792096918e-5
allele num: 98392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1446G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.988G>A
  hgvsp: ENSP00000371885.4:p.Asp330Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.937G>A
  hgvsp: ENSP00000323433.10:p.Asp313Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1045G>A
  hgvsp: ENSP00000348915.4:p.Asp349Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.380G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.522G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3626G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2361G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1677G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.901G>A
  hgvsp: ENSP00000366617.4:p.Asp301Asn
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1784G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3503
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14819
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp349Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/9-122013-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122013
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122013
    reference: chr 9
allele count: 1
allele frequency: 4.828585224529213e-5
allele num: 20710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2345T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.364T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1029T>G
  hgvsp: ENST00000356521.4:c.1029T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3610T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.506T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1768T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1661T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.972T>G
  hgvsp: ENST00000382447.4:c.972T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.921T>G
  hgvsp: ENST00000314367.10:c.921T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.885T>G
  hgvsp: ENST00000377400.4:c.885T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1430T>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11710
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr343Thr
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

9-122017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122017
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122017
    reference: chr 9
allele count: 1
allele frequency: 1.383125864453665e-4
allele num: 7230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.917A>G
  hgvsp: ENSP00000323433.10:p.Glu306Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.881A>G
  hgvsp: ENSP00000366617.4:p.Glu294Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.968A>G
  hgvsp: ENSP00000371885.4:p.Glu323Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1025A>G
  hgvsp: ENSP00000348915.4:p.Glu342Gly
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1426A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1657A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3606A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2341A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1764A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.502A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.360A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu342Gly
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

9-122029-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122029
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122029
    reference: chr 9
allele count: 1
allele frequency: 1.478415138971023e-4
allele num: 6764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.490A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.905A>G
  hgvsp: ENSP00000323433.10:p.Tyr302Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1645A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1013A>G
  hgvsp: ENSP00000348915.4:p.Tyr338Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.956A>G
  hgvsp: ENSP00000371885.4:p.Tyr319Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2329A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.869A>G
  hgvsp: ENSP00000366617.4:p.Tyr290Cys
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1752A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1414A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3594A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.348A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr338Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

9-122030-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122030
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122030
    reference: chr 9
allele count: 1
allele frequency: 1.498800959232614e-4
allele num: 6672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1413T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.868T>C
  hgvsp: ENSP00000366617.4:p.Tyr290His
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1644T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3593T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.904T>C
  hgvsp: ENSP00000323433.10:p.Tyr302His
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.489T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.347T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.1012T>C
  hgvsp: ENSP00000348915.4:p.Tyr338His
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1751T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.955T>C
  hgvsp: ENSP00000371885.4:p.Tyr319His
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2328T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr338His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-122057-CTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122057
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122054
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 1898
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.982_984delCAA
  hgvsp: ENSP00000348915.4:p.Gln328del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1721_1723delCAA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2298_2300delCAA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.838_840delCAA
  hgvsp: ENSP00000366617.4:p.Gln280del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.874_876delCAA
  hgvsp: ENSP00000323433.10:p.Gln292del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.925_927delCAA
  hgvsp: ENSP00000371885.4:p.Gln309del
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3563_3565delCAA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.317_319delCAA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.459_461delCAA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1383_1385delCAA
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1614_1616delCAA
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln328del
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CTTG
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

9-122062-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122062
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122062
    reference: chr 9
allele count: 2
allele frequency: 1.079913606911447e-3
allele num: 1852
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2296A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1719A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1381A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1612A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.980A>C
  hgvsp: ENSP00000348915.4:p.Gln327Pro
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3561A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.457A>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.923A>C
  hgvsp: ENSP00000371885.4:p.Gln308Pro
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.836A>C
  hgvsp: ENSP00000366617.4:p.Gln279Pro
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.872A>C
  hgvsp: ENSP00000323433.10:p.Gln291Pro
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.315A>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12895
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln327Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

9-122065-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122065
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122065
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 1846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1609C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.977C>G
  hgvsp: ENSP00000348915.4:p.Ser326Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.312C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.833C>G
  hgvsp: ENSP00000366617.4:p.Ser278Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.920C>G
  hgvsp: ENSP00000371885.4:p.Ser307Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.869C>G
  hgvsp: ENSP00000323433.10:p.Ser290Ter
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1378C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2293C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.454C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1716C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3558C>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: stop gained
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12440
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser326Ter
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

9-122092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 122092
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 122092
    reference: chr 9
allele count: 4
allele frequency: 2.232142857142857e-3
allele num: 1792
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.285A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.844-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.952-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1691-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1584-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3533-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.895-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.1351A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2268-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.808-2A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.429-2A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6975
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 4
hgvs: c.952-2A>G
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

9-123119-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123119
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123119
    reference: chr 9
allele count: 0
allele frequency: 0.0e0
allele num: 23186
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.240+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1690+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.807+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.324A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.894+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3532+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.428+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2267+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1583+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.843+98A>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.951+98A>G
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/9-123132-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123132
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123132
    reference: chr 9
allele count: 1
allele frequency: 2.998320940273447e-5
allele num: 33352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.311T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.843+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1690+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2267+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.240+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3532+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.428+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1583+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.951+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.807+85T>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.894+85T>G
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

9-123159-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123159
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123159
    reference: chr 9
allele count: 2
allele frequency: 5.966587112171838e-5
allele num: 33520
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.240+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2267+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.807+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.284C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.428+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.843+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.894+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3532+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1690+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1583+58C>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.951+58C>T
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 1
population: Other
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

9-123159-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123159
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123159
    reference: chr 9
allele count: 2
allele frequency: 5.966587112171838e-5
allele num: 33520
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.951+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2267+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.807+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.428+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.284C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.240+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1690+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.843+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3532+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.894+58C>G
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1583+58C>G
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8907
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

9-123163-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123163
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123163
    reference: chr 9
allele count: 1
allele frequency: 2.971944840703757e-5
allele num: 33648
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1690+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.428+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1583+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.951+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.843+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2267+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.280A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.240+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.894+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.807+54A>T
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3532+54A>T
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9059
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1431
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ

9-123184-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123184
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123184
    reference: chr 9
allele count: 1
allele frequency: 2.945855181759265e-5
allele num: 33946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1583+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3532+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2267+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.259G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.807+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.240+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.894+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1690+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.428+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.951+33G>A
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.843+33G>A
  variant of: http://identifiers.org/hgnc/17134
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3216
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

9-123380-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 123380
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 123380
    reference: chr 9
allele count: 2
allele frequency: 3.703703703703704e-3
allele num: 540
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.828+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.777+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000464198
  gene symbol: CBWD1
  hgvsc: ENST00000464198.1:n.362+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1624+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2201+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.174+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.885+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.741+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1517+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.160+6T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3466+6T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 2.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.885+6T>C
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

9-134934-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134934
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 134934
    reference: chr 9
allele count: 53
allele frequency: 2.078431372549019e-2
allele num: 2550
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000348915
  ensembl transcript: ENST00000356521
  gene symbol: CBWD1
  hgvsc: ENST00000356521.4:c.816+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000465014
  gene symbol: CBWD1
  hgvsc: ENST00000465014.2:n.1555+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000495302
  gene symbol: CBWD1
  hgvsc: ENST00000495302.1:n.2132+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000366617
  ensembl transcript: ENST00000377400
  gene symbol: CBWD1
  hgvsc: ENST00000377400.4:c.672+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475411
  gene symbol: CBWD1
  hgvsc: ENST00000475411.1:n.3397+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000462513
  gene symbol: CBWD1
  hgvsc: ENST00000462513.1:n.105+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000475990
  gene symbol: CBWD1
  hgvsc: ENST00000475990.1:n.91+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl transcript: ENST00000487575
  gene symbol: CBWD1
  hgvsc: ENST00000487575.2:n.1448+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000371885
  ensembl transcript: ENST00000382447
  gene symbol: CBWD1
  hgvsc: ENST00000382447.4:c.759+45T>C
  variant of: http://identifiers.org/hgnc/17134
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000172785
  ensembl protein: ENSP00000323433
  ensembl transcript: ENST00000314367
  gene symbol: CBWD1
  hgvsc: ENST00000314367.10:c.708+45T>C
  variant of: http://identifiers.org/hgnc/17134
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32276
  bin: 2.5e0
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.25e1
  variant carriers: 12
num of homozygotes: 4
reference allele: A

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1740
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32052
bin: 9.75e1
variant carriers: 2

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10897
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21153380179307e-4
allele num: 16508
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.526e0

QD
type: SiteQuality
SIO_000300: 7.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.95e-1

FS
type: SiteQuality
SIO_000300: 1.628e0

MQ
type: SiteQuality
SIO_000300: 4.512e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

DP
type: SiteQuality
SIO_000300: 2.691674e6

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

GenotypeQuality
all individuals: 3190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 10898
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32053
bin: 9.75e1
variant carriers: 2

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

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

African
type: Population
allele count: 2
allele frequency: 1.924187030979411e-4
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 4.748e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.69178e6

VQSLOD
type: SiteQuality
SIO_000300: 1.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 7.632e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

QD
type: SiteQuality
SIO_000300: 1.305e1

GenotypeQuality
all individuals: 10900
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3190
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1740
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32052
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 4.552e1

DP
type: SiteQuality
SIO_000300: 2.69204e6

VQSLOD
type: SiteQuality
SIO_000300: -2.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.912e0

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 6.76e0

GenotypeQuality
all individuals: 2946
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10893
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32052
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.85e-1

QD
type: SiteQuality
SIO_000300: 5.97e0

MQ
type: SiteQuality
SIO_000300: 4.427e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.157e0

VQSLOD
type: SiteQuality
SIO_000300: -2.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.859999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.584e0

DP
type: SiteQuality
SIO_000300: 2.691869e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10893
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3190
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32053
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 7.91e0

DP
type: SiteQuality
SIO_000300: 2.691437e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

MQ
type: SiteQuality
SIO_000300: 5.119e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.15e0

FS
type: SiteQuality
SIO_000300: 1.204e0

VQSLOD
type: SiteQuality
SIO_000300: -2.515e0

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

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66702
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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BaseQRankSum
type: SiteQuality
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VQSLOD
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DP
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ReadPosRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: 1.0e-4

MQ
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ClippingRankSum
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SIO_000300: -6.05e-1

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 2.698650674662669e-4
allele num: 66700
num of homozygotes: 0

Latino
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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

MQ
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VQSLOD
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MQRankSum
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QD
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FS
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -1.059e0

DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500015000150001e-5
allele num: 66666
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European (Finnish)
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num of homozygotes: 0

FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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QD
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MQRankSum
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
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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

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

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.001710324961742e-5
allele num: 66654
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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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

Latino
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.67e0

VQSLOD
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 4.006e1

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66640
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

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

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

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

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

African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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BaseQRankSum
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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SIO_000300: 3.0e-4

QD
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ClippingRankSum
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SIO_000300: -1.87e-1

FS
type: SiteQuality
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VQSLOD
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MQ
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SIO_000300: 3.931e1

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

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

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.56e0

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.2688e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 3.719e1

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

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

European (Non-Finnish)
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allele frequency: 3.004988280545706e-5
allele num: 66556
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 2.68917e6

MQRankSum
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
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SIO_000300: -5.714e0

MQ
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VQSLOD
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.007971123477215e-5
allele num: 66490
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African
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.22e0

InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 3.278e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.090000000000001e-1

VQSLOD
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.687143e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 52
allele frequency: 7.866868381240545e-3
allele num: 6610
num of homozygotes: 0

Latino
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allele frequency: 5.495075168481078e-2
allele num: 11574
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East Asian
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allele frequency: 3.912942810835841e-2
allele num: 8638
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European (Non-Finnish)
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allele count: 107
allele frequency: 1.60960346591251e-3
allele num: 66476
num of homozygotes: 0

South Asian
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allele frequency: 1.819063788503517e-3
allele num: 16492
num of homozygotes: 0

African
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allele frequency: 1.072124756335283e-3
allele num: 10260
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Other
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allele frequency: 6.651884700665188e-3
allele num: 902
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQ
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FS
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BaseQRankSum
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QD
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InbreedingCoeff
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SIO_000300: 4.2e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11570
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Other
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East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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FS
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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VQSLOD
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QD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4

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

European (Finnish)
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East Asian
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African
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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BaseQRankSum
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SIO_000300: 3.32e-1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQ
type: SiteQuality
SIO_000300: 3.697e1

VQSLOD
type: SiteQuality
SIO_000300: -8.368e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.245e0

FS
type: SiteQuality
SIO_000300: 1.7401e1

QD
type: SiteQuality
SIO_000300: 7.08e0

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10126
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.507022725902707e-5
allele num: 66356
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

ReadPosRankSum
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VQSLOD
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MQRankSum
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ClippingRankSum
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 2.989e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 6.17e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

East Asian
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allele frequency: 8.128193218764515e-4
allele num: 8612
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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FS
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 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: 6604
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
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Latino
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allele count: 2
allele frequency: 1.730702665282105e-4
allele num: 11556
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66288
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 3.048e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10040
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East Asian
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allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66282
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DP
type: SiteQuality
SIO_000300: 2.732161e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.84e-1

MQ
type: SiteQuality
SIO_000300: 3.001e1

ClippingRankSum
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8604
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 6.037553583288052e-5
allele num: 66252
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South Asian
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Latino
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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East Asian
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African
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allele frequency: 1.998800719568259e-4
allele num: 10006
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European (Finnish)
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allele num: 6604
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Latino
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allele frequency: 3.461405330564209e-4
allele num: 11556
num of homozygotes: 0

FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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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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African
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Other
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East Asian
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ReadPosRankSum
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QD
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BaseQRankSum
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MQ
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InbreedingCoeff
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FS
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ClippingRankSum
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VQSLOD
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SIO_000300: -4.539e0

MQRankSum
type: SiteQuality
SIO_000300: -2.121e0

DP
type: SiteQuality
SIO_000300: 2.726488e6

GenotypeQuality
all individuals: 271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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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bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.656509695290859e-5
allele num: 11552
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 1.008878127522195e-4
allele num: 9912
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.164e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.946e0

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

MQ
type: SiteQuality
SIO_000300: 3.035e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

DP
type: SiteQuality
SIO_000300: 2.725567e6

GenotypeQuality
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bin: 5.25e1
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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GenotypeQuality
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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: 16474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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: 1.510437120502674e-5
allele num: 66206
num of homozygotes: 0

Latino
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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: 8598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.946e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.016e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 3.035e1

VQSLOD
type: SiteQuality
SIO_000300: 3.71e0

DP
type: SiteQuality
SIO_000300: 2.725567e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.164e1

GenotypeQuality
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.534187775829756e-5
allele num: 66164
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 2.722272e6

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 3.005e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

VQSLOD
type: SiteQuality
SIO_000300: -4.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.309e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66142
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165501165501166e-4
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.069e0

VQSLOD
type: SiteQuality
SIO_000300: -4.501e0

MQRankSum
type: SiteQuality
SIO_000300: -1.207e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

DP
type: SiteQuality
SIO_000300: 2.721275e6

MQ
type: SiteQuality
SIO_000300: 3.018e1

QD
type: SiteQuality
SIO_000300: 5.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.03e0

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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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-5
allele num: 66140
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16452
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: 890
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.003e1

DP
type: SiteQuality
SIO_000300: 2.720733e6

VQSLOD
type: SiteQuality
SIO_000300: -4.348e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.678e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 3.012e1

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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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16446
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66104
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9792
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 3.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

BaseQRankSum
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: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 2.9e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9764
num of homozygotes: 0

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

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

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

Other
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.513500423780119e-5
allele num: 66072
num of homozygotes: 0

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

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

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

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

Other
type: Population
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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: 66072
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

DP
type: SiteQuality
SIO_000300: 2.720496e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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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: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2895
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9720
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.721083e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

MQ
type: SiteQuality
SIO_000300: 3.021e1

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.206920903954802e-5
allele num: 45312
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7772
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6620
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3486
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

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

QD
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FS
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: 2.05e0

MQRankSum
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SIO_000300: 2.28e0

ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 3.477e1

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

South Asian
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allele frequency: 0.0e0
allele num: 6174
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7038
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.241619071268935e-4
allele num: 8054
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.055e0

FS
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
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DP
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8118
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7134
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 3.022365504735039e-4
allele num: 9926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.588436184576285e-4
allele num: 50364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.761e0

VQSLOD
type: SiteQuality
SIO_000300: -2.784e0

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

DP
type: SiteQuality
SIO_000300: 1.106626e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

MQ
type: SiteQuality
SIO_000300: 3.461e1

QD
type: SiteQuality
SIO_000300: 7.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.467702188036741e-5
allele num: 53564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
type: SiteQuality
SIO_000300: 3.479e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.36e-1

DP
type: SiteQuality
SIO_000300: 1.15937e6

QD
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 4.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.35795763172189e-4
allele num: 7364
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.9456e1

MQ
type: SiteQuality
SIO_000300: 3.473e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 2.671e1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10542
num of homozygotes: 0

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

South Asian
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allele frequency: 1.271294177472667e-4
allele num: 7866
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4748
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
SIO_000300: 1.193204e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

Other
type: Population
allele count: 4
allele frequency: 5.797101449275362e-3
allele num: 690
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

European (Non-Finnish)
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allele count: 33
allele frequency: 5.619125459746629e-4
allele num: 58728
num of homozygotes: 0

African
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allele frequency: 1.222792858889704e-4
allele num: 8178
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 1.174210076857387e-3
allele num: 9368
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.352941176470588e-4
allele num: 8500
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Latino
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allele count: 9
allele frequency: 8.262945280940139e-4
allele num: 10892
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.245025e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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SIO_000300: -3.22e-1

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

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

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

Latino
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allele frequency: 0.0e0
allele num: 10852
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9372
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5158
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.709167977028783e-5
allele num: 58508
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

DP
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SIO_000300: 1.226159e6

ClippingRankSum
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SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 3.417e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 19
allele frequency: 3.266737732540147e-4
allele num: 58162
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8478
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

Other
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allele count: 1
allele frequency: 1.470588235294118e-3
allele num: 680
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

Latino
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allele count: 6
allele frequency: 5.54836323284631e-4
allele num: 10814
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.235177865612648e-4
allele num: 8096
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 3.431e1

VQSLOD
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 4.03e-1

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 7.099999999999999e-2

QD
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DP
type: SiteQuality
SIO_000300: 1.201784e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5120
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.723603019752491e-5
allele num: 58018
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10802
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.99e-1

BaseQRankSum
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SIO_000300: 5.629999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
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ReadPosRankSum
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SIO_000300: 6.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

InbreedingCoeff
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SIO_000300: -4.1e-3

MQ
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QD
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VQSLOD
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SIO_000300: -2.702e0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.450060376056581e-5
allele num: 57970
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8462
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

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

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

QD
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SIO_000300: 4.28e0

InbreedingCoeff
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SIO_000300: -4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-1

VQSLOD
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SIO_000300: -3.546e0

ReadPosRankSum
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DP
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SIO_000300: 1.175493e6

FS
type: SiteQuality
SIO_000300: 1.148e0

MQRankSum
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SIO_000300: 6.13e-1

MQ
type: SiteQuality
SIO_000300: 3.406e1

BaseQRankSum
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SIO_000300: -3.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8076
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.728787774012862e-5
allele num: 57844
num of homozygotes: 0

Latino
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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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FS
type: SiteQuality
SIO_000300: 4.77e0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10752
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.734244389719399e-5
allele num: 57662
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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DP
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FS
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InbreedingCoeff
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MQ
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 678
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.757345705047097e-5
allele num: 56904
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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InbreedingCoeff
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VQSLOD
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QD
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DP
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MQ
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MQRankSum
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ClippingRankSum
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8416
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.758829323202476e-5
allele num: 56856
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African
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.327e0

QD
type: SiteQuality
SIO_000300: 1.104e1

VQSLOD
type: SiteQuality
SIO_000300: -3.331e0

MQRankSum
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SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.043271e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 3.438e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e0

GenotypeQuality
all individuals: 165
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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allele count: 0
allele frequency: 0.0e0
allele num: 1310
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2540
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -6.07e-2

MQRankSum
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FS
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ReadPosRankSum
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SIO_000300: -6.5e-2

BaseQRankSum
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DP
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SIO_000300: 6.57841e5

MQ
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VQSLOD
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SIO_000300: -3.124e0

ClippingRankSum
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SIO_000300: 8.94e-1

QD
type: SiteQuality
SIO_000300: 1.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 560
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4428
num of homozygotes: 0

African
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allele count: 1
allele frequency: 7.886435331230284e-4
allele num: 1268
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 428
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 418
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

MQRankSum
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SIO_000300: -4.51e-1

DP
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SIO_000300: 1.90528e5

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.99e-2

FS
type: SiteQuality
SIO_000300: 5.283e0

QD
type: SiteQuality
SIO_000300: 4.61e0

BaseQRankSum
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SIO_000300: 9.82e-1

MQ
type: SiteQuality
SIO_000300: 3.305e1

VQSLOD
type: SiteQuality
SIO_000300: -2.263e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 2.551020408163265e-3
allele num: 392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4162
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.87e-2

DP
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SIO_000300: 1.42473e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 3.337e1

FS
type: SiteQuality
SIO_000300: 5.819e0

BaseQRankSum
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SIO_000300: 2.24e0

ClippingRankSum
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SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: -2.827e0

QD
type: SiteQuality
SIO_000300: 2.29e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 388
num of homozygotes: 0

African
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allele count: 1
allele frequency: 8.665511265164644e-4
allele num: 1154
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 52
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.956e0

DP
type: SiteQuality
SIO_000300: 1.3988e5

MQRankSum
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SIO_000300: 8.42e-1

FS
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SIO_000300: 5.13e0

BaseQRankSum
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SIO_000300: 3.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-2

MQ
type: SiteQuality
SIO_000300: 3.446e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 126
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1102
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.369e1

FS
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 7.36e-1

QD
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SIO_000300: 2.675e1

InbreedingCoeff
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SIO_000300: -9.41e-2

VQSLOD
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SIO_000300: 1.32e-1

ClippingRankSum
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SIO_000300: 7.47e-1

DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 1076
num of homozygotes: 0

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

African
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allele frequency: 6.024096385542169e-3
allele num: 332
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

Latino
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allele frequency: 0.0e0
allele num: 128
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Other
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num of homozygotes: 0

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

South Asian
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allele frequency: 0.0e0
allele num: 128
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East Asian
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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DP
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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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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bin: 9.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.25e1
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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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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.8125e-3
allele num: 128
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.873563218390805e-3
allele num: 1044
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.920000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.376e0

QD
type: SiteQuality
SIO_000300: 7.86e0

MQ
type: SiteQuality
SIO_000300: 2.09e1

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

DP
type: SiteQuality
SIO_000300: 4.1345e4

VQSLOD
type: SiteQuality
SIO_000300: -4.738e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

GenotypeQuality
all individuals: 710
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -3.051e0

MQ
type: SiteQuality
SIO_000300: 3.555e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.01e-2

DP
type: SiteQuality
SIO_000300: 2.65848e5

QD
type: SiteQuality
SIO_000300: 2.853e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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bin: 1.25e1
variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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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: 1

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2384
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.446623093681918e-4
allele num: 1836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3746
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19910
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.568e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

DP
type: SiteQuality
SIO_000300: 4.03346e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.64e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.985e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 3.439e1

QD
type: SiteQuality
SIO_000300: 1.384e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 102
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.094091903719912e-3
allele num: 1828
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 19976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

QD
type: SiteQuality
SIO_000300: 2.56e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.792e0

DP
type: SiteQuality
SIO_000300: 3.74918e5

MQ
type: SiteQuality
SIO_000300: 2.601e1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.001201441730076e-4
allele num: 19976
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2284
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3822
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 2.601e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.56e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.792e0

DP
type: SiteQuality
SIO_000300: 3.74918e5

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.988526389304599e-5
allele num: 20046
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 266
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2968
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -6.012e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

BaseQRankSum
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SIO_000300: -2.106e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

QD
type: SiteQuality
SIO_000300: 9.69e0

DP
type: SiteQuality
SIO_000300: 3.75821e5

MQ
type: SiteQuality
SIO_000300: 2.3e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2300
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3920
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2412
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.944620253164557e-5
allele num: 20224
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: -6.299e0

BaseQRankSum
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.5e-3

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 3.899e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -2.95e-1

MQ
type: SiteQuality
SIO_000300: 2.391e1

GenotypeDepth
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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African
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allele num: 78
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European (Finnish)
type: Population
allele count: 1
allele frequency: 7.142857142857142e-2
allele num: 14
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.666666666666667e-1
allele num: 6
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Latino
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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QD
type: SiteQuality
SIO_000300: 1.754e1

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.23e0

MQRankSum
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SIO_000300: 7.27e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: -5.86e-2

MQ
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SIO_000300: 2.516e1

FS
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ClippingRankSum
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DP
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SIO_000300: 3.1629e4