12-133446370-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446370
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446370
    reference: chr 12
allele count: 1
allele frequency: 4.701457451810061e-5
allele num: 21270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.70G>C
  hgvsp: ENSP00000443761.1:p.Gly24Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.418G>C
  hgvsp: ENSP00000398735.2:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.454G>C
  hgvsp: ENSP00000392395.2:p.Gly152Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.34G>C
  hgvsp: ENSP00000475247.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.34G>C
  hgvsp: ENSP00000445371.1:p.Gly12Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+940G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2501G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.454G>C
  hgvsp: ENSP00000266880.7:p.Gly152Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.418G>C
  hgvsp: ENSP00000441837.1:p.Gly140Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-109G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+940G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly152Arg
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

12-133446395-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446395
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446395
    reference: chr 12
allele count: 2
allele frequency: 9.632055480639569e-5
allele num: 20764
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.429T>C
  hgvsp: ENST00000432561.2:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-11T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-11T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+915T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.45T>C
  hgvsp: ENST00000542714.1:c.45T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-134T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2476T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+915T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.429T>C
  hgvsp: ENST00000266880.7:c.429T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-11T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-11T>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His143His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

12-133446408-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446408
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446408
    reference: chr 12
allele count: 1
allele frequency: 4.922228785193936e-5
allele num: 20316
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.32A>G
  hgvsp: ENSP00000443761.1:p.Glu11Gly
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+902A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-24A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+902A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.416A>G
  hgvsp: ENSP00000392395.2:p.Glu139Gly
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-24A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-147A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.416A>G
  hgvsp: ENSP00000266880.7:p.Glu139Gly
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-24A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-24A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2463A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2598
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu139Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

12-133446413-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446413
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446413
    reference: chr 12
allele count: 30
allele frequency: 1.514998485001515e-3
allele num: 19802
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-152C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-29C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2458C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-29C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.411C>G
  hgvsp: ENSP00000266880.7:p.Asn137Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-29C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.27C>G
  hgvsp: ENSP00000443761.1:p.Asn9Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-29C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.411C>G
  hgvsp: ENSP00000392395.2:p.Asn137Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+897C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+897C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3315
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn137Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

12-133446438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446438
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446438
    reference: chr 12
allele count: 11
allele frequency: 5.954958856647899e-4
allele num: 18472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-177G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-54G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.20-18G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+872G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-54G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.404-18G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-54G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2433G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.404-18G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+872G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-54G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2350
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2804
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 9.75e1
  variant carriers: 12
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-133446440-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446440
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446440
    reference: chr 12
allele count: 1
allele frequency: 5.41829215431296e-5
allele num: 18456
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.20-20C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2431C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.404-20C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-56C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+870C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-56C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-56C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+870C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-179C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-56C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.404-20C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2735
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 703
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/12-133446452-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446452
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446452
    reference: chr 12
allele count: 3
allele frequency: 1.67000668002672e-4
allele num: 17964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+858T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-68T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.404-32T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+858T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-68T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.404-32T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.20-32T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-68T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2419T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-191T>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-68T>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2790
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1881
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2655
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1920
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/12-133446460-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446460
    reference: chr 12
allele count: 1
allele frequency: 5.743825387708214e-5
allele num: 17410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2411G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+850G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+850G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-199G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.20-40G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-76G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-76G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.404-40G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.404-40G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-76G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-76G>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2760
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2145
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

12-133446464-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133446464
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133446464
    reference: chr 12
allele count: 4
allele frequency: 2.30017251293847e-4
allele num: 17390
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.404-80T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.20-80T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.404-80T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.20-80T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.20-203T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.20-44T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+846T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.404-44T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+2407T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+846T>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.404-44T>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1708
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

12-133447273-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447273
    reference: chr 12
allele count: 1
allele frequency: 8.253957772752034e-6
allele num: 121154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.403+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.19+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.403+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.19+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.403+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.403+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.19+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+37A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1598A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.19+37A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6013
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13168
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7155
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

12-133447279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447279
    reference: chr 12
allele count: 1
allele frequency: 8.252050634582693e-6
allele num: 121182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.19+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.403+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.19+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.403+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.19+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.403+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.19+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.403+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+31C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1592C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

12-133447280-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447280
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447280
    reference: chr 12
allele count: 1
allele frequency: 8.252459232851389e-6
allele num: 121176
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.19+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1591G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.403+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.403+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.19+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.19+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.403+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.19+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+30G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.403+30G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2492
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/12-133447281-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447281
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447280
    reference: chr 12
allele count: 4
allele frequency: 3.299785513941594e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.19+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.403+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.403+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.19+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1589delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.403+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.403+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.19+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.19+28delG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+28delG
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
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: AC
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/12-133447289-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447289
    reference: chr 12
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.403+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.403+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1582G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.19+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.403+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.19+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.403+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.19+21G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.19+21G>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

12-133447294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447294
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447294
    reference: chr 12
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.403+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.358+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1577G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.403+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.403+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.403+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.403+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.19+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.19+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.19+16G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.19+16G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3904
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8877
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4726
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

12-133447319-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447319
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.394G>A
  hgvsp: ENSP00000392395.2:p.Glu132Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.349G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1552G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.10G>A
  hgvsp: ENSP00000475247.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.10G>A
  hgvsp: ENSP00000445371.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.394G>A
  hgvsp: ENSP00000266880.7:p.Glu132Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.394G>A
  hgvsp: ENSP00000320557.7:p.Glu132Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.394G>A
  hgvsp: ENSP00000398735.2:p.Glu132Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.10G>A
  hgvsp: ENSP00000443237.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.10G>A
  hgvsp: ENSP00000443761.1:p.Glu4Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.394G>A
  hgvsp: ENSP00000441837.1:p.Glu132Lys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.588G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu132Lys
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-133447323-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447323
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447323
    reference: chr 12
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.390A>G
  hgvsp: ENST00000540963.1:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.345A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.390A>G
  hgvsp: ENST00000266880.7:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1548A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.390A>G
  hgvsp: ENST00000450056.2:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.584A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.6A>G
  hgvsp: ENST00000541817.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.390A>G
  hgvsp: ENST00000315585.7:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.6A>G
  hgvsp: ENST00000536932.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.390A>G
  hgvsp: ENST00000432561.2:c.390A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.6A>G
  hgvsp: ENST00000540537.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.6A>G
  hgvsp: ENST00000542714.1:c.6A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6017
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr130Thr
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

12-133447330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447330
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447330
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.383G>A
  hgvsp: ENSP00000320557.7:p.Gly128Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.338G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.383G>A
  hgvsp: ENSP00000441837.1:p.Gly128Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.383G>A
  hgvsp: ENSP00000266880.7:p.Gly128Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1541G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.383G>A
  hgvsp: ENSP00000398735.2:p.Gly128Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.577G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-2G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.383G>A
  hgvsp: ENSP00000392395.2:p.Gly128Asp
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly128Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

12-133447331-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447331
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.382G>C
  hgvsp: ENSP00000266880.7:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.337G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.382G>C
  hgvsp: ENSP00000392395.2:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.382G>C
  hgvsp: ENSP00000441837.1:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-3G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1540G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.382G>C
  hgvsp: ENSP00000398735.2:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.382G>C
  hgvsp: ENSP00000320557.7:p.Gly128Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.576G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly128Arg
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

12-133447331-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447331
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447331
    reference: chr 12
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.382G>A
  hgvsp: ENSP00000266880.7:p.Gly128Ser
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.382G>A
  hgvsp: ENSP00000392395.2:p.Gly128Ser
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.576G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.382G>A
  hgvsp: ENSP00000398735.2:p.Gly128Ser
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.382G>A
  hgvsp: ENSP00000441837.1:p.Gly128Ser
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.382G>A
  hgvsp: ENSP00000320557.7:p.Gly128Ser
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1540G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.337G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13618
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly128Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum

12-133447354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447354
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447354
    reference: chr 12
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.359A>G
  hgvsp: ENSP00000441837.1:p.Tyr120Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.359A>G
  hgvsp: ENSP00000320557.7:p.Tyr120Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.553A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.359A>G
  hgvsp: ENSP00000392395.2:p.Tyr120Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.359A>G
  hgvsp: ENSP00000398735.2:p.Tyr120Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1517A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.359A>G
  hgvsp: ENSP00000266880.7:p.Tyr120Cys
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.314A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-26A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2572
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr120Cys
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-133447358-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447358
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447358
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.355C>G
  hgvsp: ENSP00000398735.2:p.Leu119Val
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.355C>G
  hgvsp: ENSP00000441837.1:p.Leu119Val
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.310C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.355C>G
  hgvsp: ENSP00000320557.7:p.Leu119Val
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.355C>G
  hgvsp: ENSP00000392395.2:p.Leu119Val
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.355C>G
  hgvsp: ENSP00000266880.7:p.Leu119Val
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.549C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1513C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-30C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13616
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu119Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

12-133447362-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447362
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447362
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.351A>G
  hgvsp: ENST00000266880.7:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.545A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.351A>G
  hgvsp: ENST00000450056.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.351A>G
  hgvsp: ENST00000432561.2:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.351A>G
  hgvsp: ENST00000540963.1:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-34A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1509A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.351A>G
  hgvsp: ENST00000315585.7:c.351A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.306A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1133
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8872
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6016
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala117Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

12-133447367-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447367
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447367
    reference: chr 12
allele count: 3
allele frequency: 2.472432378974435e-5
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.346G>A
  hgvsp: ENSP00000266880.7:p.Val116Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.346G>A
  hgvsp: ENSP00000398735.2:p.Val116Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.346G>A
  hgvsp: ENSP00000441837.1:p.Val116Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.346G>A
  hgvsp: ENSP00000392395.2:p.Val116Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.301G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.540G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1504G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.346G>A
  hgvsp: ENSP00000320557.7:p.Val116Met
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3900
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2483
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val116Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-133447368-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447368
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447368
    reference: chr 12
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.300C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.539C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.345C>T
  hgvsp: ENST00000266880.7:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.345C>T
  hgvsp: ENST00000432561.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1503C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.345C>T
  hgvsp: ENST00000315585.7:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.345C>T
  hgvsp: ENST00000450056.2:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.345C>T
  hgvsp: ENST00000540963.1:c.345C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-40C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13615
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.345C>T
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

12-133447378-AAATC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447378
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447374
    reference: chr 12
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-13_344-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-13_-41-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-13_538-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-13_344-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1489_343+1492delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-13_-41-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-13_344-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-13_344-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-13_-41-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-13_299-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-13_344-10delGATT
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-13_-41-10delGATT
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4137
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8841
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3898
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2571
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: AAATC
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

12-133447399-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447399
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447399
    reference: chr 12
allele count: 22
allele frequency: 1.818031567639038e-4
allele num: 121010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1472A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-30A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-30A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8711
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12938
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5971
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum

12-133447402-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447402
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447402
    reference: chr 12
allele count: 2
allele frequency: 1.653275138048474e-5
allele num: 120972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1469A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-33A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-33A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3883
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS

12-133447404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447404
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447404
    reference: chr 12
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1467C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-35C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-35C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12606
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1752
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD

12-133447406-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447406
    reference: chr 12
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1465G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-37G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-37G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

12-133447406-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447406
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447406
    reference: chr 12
allele count: 1
allele frequency: 8.270614506657845e-6
allele num: 120910
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1465G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-37G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-37G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12198
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12414
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

12-133447407-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447407
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447407
    reference: chr 12
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1464G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-38G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-38G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD

12-133447407-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447407
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447407
    reference: chr 12
allele count: 1
allele frequency: 8.271709100534353e-6
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1464G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-38G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-38G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3434
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8561
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5930
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12192
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

12-133447409-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447409
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447409
    reference: chr 12
allele count: 2
allele frequency: 1.655272871732905e-5
allele num: 120826
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1462A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-40A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-40A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5910
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-133447410-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447410
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447410
    reference: chr 12
allele count: 2
allele frequency: 1.655519502019734e-5
allele num: 120808
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1461C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-41C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-41C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8441
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3697
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3862
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-133447418-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447418
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447418
    reference: chr 12
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1453A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-49A>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-49A>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-133447418-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447418
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447418
    reference: chr 12
allele count: 1
allele frequency: 8.303303053954863e-6
allele num: 120434
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1453A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-49A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-49A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7241
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-133447421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133447421
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133447421
    reference: chr 12
allele count: 13
allele frequency: 1.080883331116137e-4
allele num: 120272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+1450C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.299-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.344-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.344-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.538-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-41-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-41-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.344-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.344-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-41-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.344-52C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-41-52C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5849
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2481
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3846
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3848
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9526
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7477
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

12-133448822-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448822
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448822
    reference: chr 12
allele count: 6
allele frequency: 4.963271788763152e-5
allele num: 120888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.422G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.382-48G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+49G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24707
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

12-133448823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448823
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448823
    reference: chr 12
allele count: 1450
allele frequency: 1.198565028352262e-2
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.421C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+48C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+48C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 7.75e1
  variant carriers: 89
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 24729
  bin: 2.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17162
  bin: 3.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 1.75e1
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 5.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.75e1
  variant carriers: 117
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 6.25e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
num of homozygotes: 21
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

12-133448825-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448825
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448825
    reference: chr 12
allele count: 1
allele frequency: 8.265555775970376e-6
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.419C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+46C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+46C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/12-133448827-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448827
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448828
    reference: chr 12
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.416dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+43dupG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+43dupG
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

12-133448828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448828
    reference: chr 12
allele count: 1
allele frequency: 8.267059076404159e-6
allele num: 120962
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.416G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+43G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+43G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25370
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

12-133448832-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448832
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448832
    reference: chr 12
allele count: 2
allele frequency: 1.652810604432838e-5
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.412G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+39G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+39G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-133448832-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448832
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448832
    reference: chr 12
allele count: 2
allele frequency: 1.652810604432838e-5
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.412G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+39G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+39G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17511
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

12-133448833-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448833
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448833
    reference: chr 12
allele count: 1
allele frequency: 8.261868173631421e-6
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.411C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+38C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+38C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD

http://identifiers.org/exac.variant/12-133448836-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448836
    reference: chr 12
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.408G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+35G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+35G>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-133448836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448836
    reference: chr 12
allele count: 15
allele frequency: 1.239689912229954e-4
allele num: 120998
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.408G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+35G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+35G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-133448837-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448837
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448837
    reference: chr 12
allele count: 4
allele frequency: 3.30376463980706e-5
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.407C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+34C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+34C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25706
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-133448837-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448837
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448837
    reference: chr 12
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.407C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+34C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+34C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6802
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

12-133448843-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448843
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448843
    reference: chr 12
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.401C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+28C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+28C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17563
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/12-133448845-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448845
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448845
    reference: chr 12
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.399G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+26G>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+26G>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

12-133448845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448845
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448845
    reference: chr 12
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.399G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+26G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+26G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

12-133448849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448849
    reference: chr 12
allele count: 3
allele frequency: 2.475574333245313e-5
allele num: 121184
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.395C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+22C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17595
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26019
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

12-133448854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448854
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448854
    reference: chr 12
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+17C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.390C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+17C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7048
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-133448859-CCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448859
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448857
    reference: chr 12
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+10_343+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+10_343+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+10_298+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+10_343+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+10_-42+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+10_-42+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+10_-42+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+10_343+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.383_384delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+10_381+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+10_343+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+10_343+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+10_-42+11delAG
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+10_537+11delAG
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17628
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: CCT
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-133448860-CTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448860
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448857
    reference: chr 12
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+8_343+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+8_343+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+8_-42+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+8_381+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+8_-42+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+8_343+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+8_537+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+8_298+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+8_343+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.381_383delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+8_343+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+8_-42+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+8_-42+10delAGA
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+8_343+10delAGA
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.343+8_343+10delAGA
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: CTCT
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-133448862-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448862
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448862
    reference: chr 12
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.382G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537+9G>C
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381+9G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26226
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

12-133448871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448871
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448871
    reference: chr 12
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.343A>G
  hgvsp: ENSP00000416431.2:p.Arg115Gly
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.343A>G
  hgvsp: ENSP00000266880.7:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.343A>G
  hgvsp: ENSP00000392395.2:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.381A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.537A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.298A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.343A>G
  hgvsp: ENSP00000320557.7:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.343A>G
  hgvsp: ENSP00000398735.2:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.343A>G
  hgvsp: ENSP00000441837.1:p.Asn115Asp
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.373A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-42A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17635
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4860
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26275
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn115Asp
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD

12-133448873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448873
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448873
    reference: chr 12
allele count: 3
allele frequency: 2.471861971227527e-5
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-44A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.535A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.341A>G
  hgvsp: ENSP00000416431.2:p.His114Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-44A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.371A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-44A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.341A>G
  hgvsp: ENSP00000266880.7:p.His114Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.341A>G
  hgvsp: ENSP00000320557.7:p.His114Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.341A>G
  hgvsp: ENSP00000398735.2:p.His114Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.341A>G
  hgvsp: ENSP00000392395.2:p.His114Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.341A>G
  hgvsp: ENSP00000441837.1:p.His114Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.296A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.379A>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-44A>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His114Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

12-133448874-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448874
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448874
    reference: chr 12
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.340C>T
  hgvsp: ENSP00000416431.2:p.His114Tyr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.340C>T
  hgvsp: ENSP00000266880.7:p.His114Tyr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.295C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.340C>T
  hgvsp: ENSP00000398735.2:p.His114Tyr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.340C>T
  hgvsp: ENSP00000441837.1:p.His114Tyr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.370C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.534C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.340C>T
  hgvsp: ENSP00000392395.2:p.His114Tyr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.340C>T
  hgvsp: ENSP00000320557.7:p.His114Tyr
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-45C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.378C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26291
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7075
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His114Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

12-133448878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448878
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448878
    reference: chr 12
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.374G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.336G>A
  hgvsp: ENST00000540963.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.530G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.336G>A
  hgvsp: ENST00000443047.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.291G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.336G>A
  hgvsp: ENST00000266880.7:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.336G>A
  hgvsp: ENST00000450056.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.336G>A
  hgvsp: ENST00000432561.2:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.336G>A
  hgvsp: ENST00000315585.7:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-49G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.366G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro112Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-133448879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448879
    reference: chr 12
allele count: 7
allele frequency: 5.766632616074076e-5
allele num: 121388
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.365C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.335C>T
  hgvsp: ENSP00000441837.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.529C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.335C>T
  hgvsp: ENSP00000320557.7:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.335C>T
  hgvsp: ENSP00000398735.2:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.373C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.335C>T
  hgvsp: ENSP00000416431.2:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.335C>T
  hgvsp: ENSP00000392395.2:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.335C>T
  hgvsp: ENSP00000266880.7:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.290C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro112Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

12-133448879-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448879
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448879
    reference: chr 12
allele count: 2
allele frequency: 1.647609318878308e-5
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.290C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.335C>G
  hgvsp: ENSP00000392395.2:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.335C>G
  hgvsp: ENSP00000320557.7:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.335C>G
  hgvsp: ENSP00000416431.2:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.335C>G
  hgvsp: ENSP00000266880.7:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.335C>G
  hgvsp: ENSP00000441837.1:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-50C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-50C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-50C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.335C>G
  hgvsp: ENSP00000398735.2:p.Pro112Arg
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-50C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.529C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.373C>G
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.365C>G
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7058
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro112Arg
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

12-133448893-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448893
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448893
    reference: chr 12
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.276C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.321C>T
  hgvsp: ENST00000432561.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.321C>T
  hgvsp: ENST00000540963.1:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.321C>T
  hgvsp: ENST00000266880.7:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-64C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.321C>T
  hgvsp: ENST00000443047.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.359C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-64C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.321C>T
  hgvsp: ENST00000450056.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.515C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.321C>T
  hgvsp: ENST00000315585.7:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-64C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.351C>T
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-64C>T
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17647
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26331
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr107Tyr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

12-133448898-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448898
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448898
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000416431
  ensembl transcript: ENST00000443047
  gene symbol: CHFR
  hgvsc: ENST00000443047.2:c.316G>A
  hgvsp: ENSP00000416431.2:p.Val106Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000266880
  ensembl transcript: ENST00000266880
  gene symbol: CHFR
  hgvsc: ENST00000266880.7:c.316G>A
  hgvsp: ENSP00000266880.7:p.Val106Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000475247
  ensembl transcript: ENST00000536932
  gene symbol: CHFR
  hgvsc: ENST00000536932.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000398735
  ensembl transcript: ENST00000450056
  gene symbol: CHFR
  hgvsc: ENST00000450056.2:c.316G>A
  hgvsp: ENSP00000398735.2:p.Val106Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.316G>A
  hgvsp: ENSP00000320557.7:p.Val106Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.316G>A
  hgvsp: ENSP00000392395.2:p.Val106Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000537551
  gene symbol: CHFR
  hgvsc: ENST00000537551.1:n.510G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000541837
  gene symbol: CHFR
  hgvsc: ENST00000541837.2:n.271G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000445371
  ensembl transcript: ENST00000541817
  gene symbol: CHFR
  hgvsc: ENST00000541817.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443761
  ensembl transcript: ENST00000542714
  gene symbol: CHFR
  hgvsc: ENST00000542714.1:c.-69G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000441837
  ensembl transcript: ENST00000540963
  gene symbol: CHFR
  hgvsc: ENST00000540963.1:c.316G>A
  hgvsp: ENSP00000441837.1:p.Val106Met
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000536196
  gene symbol: CHFR
  hgvsc: ENST00000536196.1:n.354G>A
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000072609
  ensembl transcript: ENST00000535181
  gene symbol: CHFR
  hgvsc: ENST00000535181.1:n.346G>A
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 26332
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val106Met
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

12-133448899-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 133448899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 133448899
    reference: chr 12
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000320557
  ensembl transcript: ENST00000315585
  gene symbol: CHFR
  hgvsc: ENST00000315585.7:c.315G>C
  hgvsp: ENSP00000320557.7:p.Leu105Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000392395
  ensembl transcript: ENST00000432561
  gene symbol: CHFR
  hgvsc: ENST00000432561.2:c.315G>C
  hgvsp: ENSP00000392395.2:p.Leu105Phe
  variant of: http://identifiers.org/hgnc/20455
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000072609
  ensembl protein: ENSP00000443237
  ensembl transcript: ENST00000540537
  gene symbol: CHFR
  hgvsc: ENST00000540537.1:c.-70G>C
  variant of: http://identifiers.org/hgnc/20455
canonical: true
consequence: missense
filter: PASS
hgvs: p.Leu105Phe
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7506
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3404
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 64
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.525252525252525e-3
allele num: 396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.053e0

MQRankSum
type: SiteQuality
SIO_000300: 8.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: -3.872e-1

QD
type: SiteQuality
SIO_000300: 1.694e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

FS
type: SiteQuality
SIO_000300: 7.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

DP
type: SiteQuality
SIO_000300: 2.913e5

GenotypeQuality
all individuals: 30
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7104
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2733
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 566
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1952
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.531645569620253e-4
allele num: 7900
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.358e1

DP
type: SiteQuality
SIO_000300: 2.75879e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.32e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e-1

FS
type: SiteQuality
SIO_000300: 2.313e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1183
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6675
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 293
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1850
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.792114695340502e-3
allele num: 558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1604
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.12e-2

DP
type: SiteQuality
SIO_000300: 2.66859e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.41e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.021e0

GenotypeQuality
all individuals: 1481
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 9.75e1
variant carriers: 29

GenotypeQuality
all individuals: 58
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 129
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6328
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7846
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.334757074212493e-4
allele num: 7492
num of homozygotes: 0

African
type: Population
allele count: 29
allele frequency: 1.682134570765661e-2
allele num: 1724
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.59249e5

VQSLOD
type: SiteQuality
SIO_000300: 5.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

GenotypeQuality
all individuals: 419
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 196
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 710
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 399
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4369
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1562
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 7.617728531855956e-3
allele num: 1444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6784
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

FS
type: SiteQuality
SIO_000300: 2.329e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.81e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.26038e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.632e1

GenotypeQuality
all individuals: 713
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 113
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variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
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variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 397
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 56
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.479289940828402e-4
allele num: 6760
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1440
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7592
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.229e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.76e-1

DP
type: SiteQuality
SIO_000300: 2.2386e5

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
all individuals: 853
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
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variant carriers: 0

GenotypeQuality
all individuals: 254
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variant carriers: 0

GenotypeQuality
all individuals: 2303
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variant carriers: 0

GenotypeQuality
all individuals: 215
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variant carriers: 0

GenotypeQuality
all individuals: 200
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variant carriers: 0

GenotypeQuality
all individuals: 182
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variant carriers: 0

GenotypeQuality
all individuals: 58
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variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 534
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
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variant carriers: 0

GenotypeQuality
all individuals: 2851
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 9.75e1
variant carriers: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.18978102189781e-3
allele num: 1370
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1554
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.37e-2

FS
type: SiteQuality
SIO_000300: 1.31e0

VQSLOD
type: SiteQuality
SIO_000300: -6.64e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

DP
type: SiteQuality
SIO_000300: 2.02998e5

MQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.75e-1

QD
type: SiteQuality
SIO_000300: 9.59e0

GenotypeQuality
all individuals: 1363
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 9.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7246
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 198
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.597954618088846e-4
allele num: 6258
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.64e-2

QD
type: SiteQuality
SIO_000300: 1.057e1

ClippingRankSum
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SIO_000300: -2.036e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.63e-1

BaseQRankSum
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SIO_000300: -3.283e0

MQ
type: SiteQuality
SIO_000300: 5.808e1

VQSLOD
type: SiteQuality
SIO_000300: -8.492e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

DP
type: SiteQuality
SIO_000300: 1.91186e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.4246707356248e-4
allele num: 6226
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1534
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.019e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.89474e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.71e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.034e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 9
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501321162623108e-5
allele num: 66608
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.16e0

FS
type: SiteQuality
SIO_000300: 4.251e0

DP
type: SiteQuality
SIO_000300: 2.526453e6

MQ
type: SiteQuality
SIO_000300: 5.921e1

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.84e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

VQSLOD
type: SiteQuality
SIO_000300: 2.3e-1

GenotypeQuality
all individuals: 4261
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 49
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GenotypeQuality
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GenotypeQuality
all individuals: 4731
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GenotypeQuality
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GenotypeQuality
all individuals: 88
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GenotypeQuality
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GenotypeQuality
all individuals: 145
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 3379
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3051
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66626
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.925e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 2.529662e6

ClippingRankSum
type: SiteQuality
SIO_000300: 8.98e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 3.411e0

QD
type: SiteQuality
SIO_000300: 1.251e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.386e0

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
all individuals: 6
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 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: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.88e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 6.661e0

BaseQRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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SIO_000300: 2.53037e6

QD
type: SiteQuality
SIO_000300: 1.093e1

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.002581109877247e-5
allele num: 66638
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.09e-1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.862e0

DP
type: SiteQuality
SIO_000300: 2.530837e6

MQRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
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SIO_000300: -1.42e-1

BaseQRankSum
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SIO_000300: 1.18e0

VQSLOD
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SIO_000300: 3.38e0

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 36
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GenotypeQuality
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variant carriers: 0

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

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: 10400
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16464
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.533237e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
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MQRankSum
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BaseQRankSum
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SIO_000300: -3.515e0

ClippingRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 5.851e1

QD
type: SiteQuality
SIO_000300: 1.094e1

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

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

European (Finnish)
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European (Non-Finnish)
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allele num: 66690
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African
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Latino
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Other
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South Asian
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Other
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East Asian
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MQRankSum
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MQ
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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QD
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16508
num of homozygotes: 0

European (Finnish)
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East Asian
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European (Non-Finnish)
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Other
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African
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Latino
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BaseQRankSum
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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ReadPosRankSum
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DP
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
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MQRankSum
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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Latino
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South Asian
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Other
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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DP
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FS
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MQ
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BaseQRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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Other
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South Asian
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European (Finnish)
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European (Non-Finnish)
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DP
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
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MQ
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.75e1
variant carriers: 0

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

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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MQ
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MQRankSum
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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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FS
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BaseQRankSum
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QD
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GenotypeDepth
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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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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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8608
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African
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South Asian
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MQ
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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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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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

Latino
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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African
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South Asian
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FS
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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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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GenotypeQuality
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variant carriers: 0

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

South Asian
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Other
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East Asian
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allele count: 0
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African
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European (Non-Finnish)
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allele count: 1
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allele num: 66422
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Latino
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InbreedingCoeff
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FS
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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GenotypeDepth
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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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GenotypeQuality
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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
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allele num: 16426
num of homozygotes: 0

Latino
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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: 66422
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African
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East Asian
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European (Finnish)
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Other
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VQSLOD
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QD
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MQRankSum
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MQ
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DP
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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African
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InbreedingCoeff
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QD
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DP
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MQ
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FS
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VQSLOD
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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num of homozygotes: 0

South Asian
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Latino
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African
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East Asian
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Other
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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DP
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MQ
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VQSLOD
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QD
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FS
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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African
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European (Non-Finnish)
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allele frequency: 1.511990081345066e-5
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num of homozygotes: 0

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

European (Finnish)
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Latino
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

MQ
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MQRankSum
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DP
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VQSLOD
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QD
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ClippingRankSum
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FS
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InbreedingCoeff
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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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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6600
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South Asian
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Latino
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allele num: 11510
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East Asian
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African
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Other
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European (Non-Finnish)
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VQSLOD
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DP
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QD
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MQRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 9.016861531063088e-5
allele num: 66542
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African
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East Asian
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Latino
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South Asian
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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QD
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BaseQRankSum
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FS
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MQ
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VQSLOD
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DP
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InbreedingCoeff
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GenotypeDepth
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variant carriers: 55

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 7.559721802237678e-4
allele num: 6614
num of homozygotes: 0

East Asian
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African
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South Asian
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European (Non-Finnish)
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allele num: 66564
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Latino
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Other
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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FS
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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allele num: 16252
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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MQ
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SIO_000300: 6.0e1

InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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DP
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ReadPosRankSum
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FS
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501997656883655e-5
allele num: 66578
num of homozygotes: 0

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

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

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

Other
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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QD
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DP
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8654
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.228954160009832e-4
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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

Latino
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num of homozygotes: 0

MQRankSum
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SIO_000300: 8.23e-1

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

QD
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VQSLOD
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SIO_000300: 5.649999999999999e-1

BaseQRankSum
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FS
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SIO_000300: 2.929e0

InbreedingCoeff
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SIO_000300: 4.2e-3

DP
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SIO_000300: 1.865147e6

ClippingRankSum
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SIO_000300: 2.32e-1

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501907422426482e-5
allele num: 66582
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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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MQRankSum
type: SiteQuality
SIO_000300: 7.48e-1

VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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FS
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SIO_000300: 3.379e0

QD
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SIO_000300: 1.308e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66570
num of homozygotes: 0

East Asian
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allele num: 8654
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South Asian
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African
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Other
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele num: 11576
num of homozygotes: 0

East Asian
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African
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allele num: 10404
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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InbreedingCoeff
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DP
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MQRankSum
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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South Asian
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Latino
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African
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European (Non-Finnish)
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Other
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MQRankSum
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SIO_000300: 1.95e-1

BaseQRankSum
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QD
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DP
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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SIO_000300: 2.2e-3

ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501411326647048e-5
allele num: 66604
num of homozygotes: 0

South Asian
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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MQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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MQ
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QD
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ClippingRankSum
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SIO_000300: 4.05e-1

VQSLOD
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SIO_000300: 1.91e0

BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele num: 10404
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Latino
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European (Non-Finnish)
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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SIO_000300: 9.976000000000001e0

ClippingRankSum
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BaseQRankSum
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MQ
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SIO_000300: 5.971e1

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

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

South Asian
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allele num: 16356
num of homozygotes: 0

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

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

European (Finnish)
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Other
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East Asian
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QD
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BaseQRankSum
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FS
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VQSLOD
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MQRankSum
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

Other
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South Asian
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East Asian
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Latino
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European (Finnish)
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African
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QD
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MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQ
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 16388
num of homozygotes: 0

Latino
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European (Finnish)
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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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FS
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ClippingRankSum
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DP
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BaseQRankSum
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QD
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

East Asian
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European (Finnish)
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South Asian
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Latino
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African
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Other
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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allele frequency: 0.0e0
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Latino
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66714
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East Asian
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South Asian
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Other
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African
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Latino
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European (Finnish)
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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FS
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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East Asian
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Other
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South Asian
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InbreedingCoeff
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FS
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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VQSLOD
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MQ
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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Other
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European (Non-Finnish)
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African
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ReadPosRankSum
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FS
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MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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DP
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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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African
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European (Finnish)
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South Asian
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Latino
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European (Non-Finnish)
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DP
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MQ
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QD
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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European (Finnish)
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South Asian
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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FS
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MQ
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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MQ
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QD
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DP
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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African
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DP
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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