17-41246753-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246753
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246753
    reference: chr 17
allele count: 27
allele frequency: 2.23265967651242e-4
allele num: 120932
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.795T>C
  hgvsp: ENST00000471181.2:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.392T>C
  hgvsp: ENST00000473961.1:c.392T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-94T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-94T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.146T>C
  hgvsp: ENST00000412061.3:c.146T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20215T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30446T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.795T>C
  hgvsp: ENST00000346315.3:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.795T>C
  hgvsp: ENST00000470026.1:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.654T>C
  hgvsp: ENST00000493795.1:c.654T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.795T>C
  hgvsp: ENST00000494123.1:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.795T>C
  hgvsp: ENST00000357654.3:c.795T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.787+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.412+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.787+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.784+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.409+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*578T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*731T>C
  variant of: http://identifiers.org/hgnc/1100
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.787+8T>C
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

17-41246753-AGAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246753
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246749
    reference: chr 17
allele count: 1
allele frequency: 8.269109913008963e-6
allele num: 120932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.713_716delGTTC
  hgvsp: ENSP00000419988.1:p.Ser238MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.791_794delGTTC
  hgvsp: ENSP00000418960.2:p.Ser264MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.791_794delGTTC
  hgvsp: ENSP00000246907.4:p.Ser264MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.650_653delGTTC
  hgvsp: ENSP00000418775.1:p.Ser217MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.787+4_787+7delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.646+4_646+7delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.791_794delGTTC
  hgvsp: ENSP00000419274.1:p.Ser264MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.791_794delGTTC
  hgvsp: ENSP00000326002.6:p.Ser264MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.412+4_412+7delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.142_145delGTTC
  hgvsp: ENSP00000397145.3:p.Ser48MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.791_794delGTTC
  hgvsp: ENSP00000350283.3:p.Ser264MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*727_*730delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.388_391delGTTC
  hgvsp: ENSP00000420201.1:p.Ser130MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3708_548-3705delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1106_670+1109delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.791_794delGTTC
  hgvsp: ENSP00000419103.1:p.Ser264MetfsTer33
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.409+4_409+7delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.784+4_784+7delGTTC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*574_*577delGTTC
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser264MetfsTer33
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: AGAAC
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

17-41246780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246780
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246780
    reference: chr 17
allele count: 3
allele frequency: 2.487067250298448e-5
allele num: 120624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.768G>A
  hgvsp: ENST00000346315.3:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.768G>A
  hgvsp: ENST00000491747.2:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.768G>A
  hgvsp: ENST00000357654.3:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.765G>A
  hgvsp: ENST00000478531.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*704G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.768G>A
  hgvsp: ENST00000470026.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30419G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.768G>A
  hgvsp: ENST00000468300.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.627G>A
  hgvsp: ENST00000493795.1:c.627G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.768G>A
  hgvsp: ENST00000354071.3:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.768G>A
  hgvsp: ENST00000494123.1:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.393G>A
  hgvsp: ENST00000487825.1:c.393G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.119G>A
  hgvsp: ENST00000412061.3:c.119G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30508G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.832G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.390G>A
  hgvsp: ENST00000484087.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-121G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.768G>A
  hgvsp: ENST00000471181.2:c.768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20242G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.690G>A
  hgvsp: ENST00000477152.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg256Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

17-41246782-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246782
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246782
    reference: chr 17
allele count: 1
allele frequency: 8.285278716776033e-6
allele num: 120696
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.363A>C
  hgvsp: ENST00000473961.1:c.363A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.388A>C
  hgvsp: ENST00000484087.1:c.388A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.766A>C
  hgvsp: ENST00000346315.3:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.391A>C
  hgvsp: ENST00000487825.1:c.391A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.763A>C
  hgvsp: ENST00000478531.1:c.763A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*549A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.766A>C
  hgvsp: ENST00000357654.3:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.688A>C
  hgvsp: ENST00000477152.1:c.688A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.766A>C
  hgvsp: ENST00000468300.1:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.766A>C
  hgvsp: ENST00000491747.2:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-123A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.625A>C
  hgvsp: ENST00000493919.1:c.625A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.766A>C
  hgvsp: ENST00000470026.1:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.766A>C
  hgvsp: ENST00000354071.3:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.766A>C
  hgvsp: ENST00000494123.1:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.766A>C
  hgvsp: ENST00000471181.2:c.766A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.625A>C
  hgvsp: ENST00000493795.1:c.625A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20244A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*702A>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg256Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

17-41246783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246783
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246783
    reference: chr 17
allele count: 42
allele frequency: 3.481778691514408e-4
allele num: 120628
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30416G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.687G>A
  hgvsp: ENST00000477152.1:c.687G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*701G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.765G>A
  hgvsp: ENST00000494123.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.765G>A
  hgvsp: ENST00000346315.3:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.390G>A
  hgvsp: ENST00000487825.1:c.390G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.624G>A
  hgvsp: ENST00000493919.1:c.624G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20245G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.765G>A
  hgvsp: ENST00000491747.2:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.765G>A
  hgvsp: ENST00000354071.3:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.762G>A
  hgvsp: ENST00000478531.1:c.762G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.362G>A
  hgvsp: ENST00000473961.1:c.362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.765G>A
  hgvsp: ENST00000468300.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.765G>A
  hgvsp: ENST00000470026.1:c.765G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-124G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.387G>A
  hgvsp: ENST00000484087.1:c.387G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3734G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1080G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu255Glu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-41246798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246798
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246798
    reference: chr 17
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.750G>A
  hgvsp: ENST00000470026.1:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.750G>A
  hgvsp: ENST00000346315.3:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.347G>A
  hgvsp: ENST00000473961.1:c.347G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*686G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.375G>A
  hgvsp: ENST00000487825.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.750G>A
  hgvsp: ENST00000357654.3:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.750G>A
  hgvsp: ENST00000468300.1:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.609G>A
  hgvsp: ENST00000493795.1:c.609G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.101G>A
  hgvsp: ENST00000412061.3:c.101G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.672G>A
  hgvsp: ENST00000477152.1:c.672G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.747G>A
  hgvsp: ENST00000478531.1:c.747G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.750G>A
  hgvsp: ENST00000471181.2:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-139G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30490G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.372G>A
  hgvsp: ENST00000484087.1:c.372G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.750G>A
  hgvsp: ENST00000494123.1:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30401G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-139G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20260G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.750G>A
  hgvsp: ENST00000354071.3:c.750G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu250Glu
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

17-41246810-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246810
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246810
    reference: chr 17
allele count: 1
allele frequency: 8.370722560771445e-6
allele num: 119464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.89G>C
  hgvsp: ENSP00000397145.3:p.Leu30Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-151G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30389G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.735G>C
  hgvsp: ENSP00000420412.1:p.Leu245Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.597G>C
  hgvsp: ENSP00000418819.1:p.Leu199Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.738G>C
  hgvsp: ENSP00000418960.2:p.Leu246Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.738G>C
  hgvsp: ENSP00000417148.1:p.Leu246Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.363G>C
  hgvsp: ENSP00000418212.1:p.Leu121Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.738G>C
  hgvsp: ENSP00000419103.1:p.Leu246Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20272G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.738G>C
  hgvsp: ENSP00000419274.1:p.Leu246Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.660G>C
  hgvsp: ENSP00000419988.1:p.Leu220Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.597G>C
  hgvsp: ENSP00000418775.1:p.Leu199Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.738G>C
  hgvsp: ENSP00000326002.6:p.Leu246Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-151G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.360G>C
  hgvsp: ENSP00000419481.1:p.Leu120Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.335G>C
  hgvsp: ENSP00000420201.1:p.Leu112Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*674G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1053G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30478G>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu246Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-41246812-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246812
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246812
    reference: chr 17
allele count: 26
allele frequency: 2.18131785156971e-4
allele num: 119194
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.800T>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1051T>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.736T>G
  hgvsp: ENSP00000350283.3:p.Leu246Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.658T>G
  hgvsp: ENSP00000419988.1:p.Leu220Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.358T>G
  hgvsp: ENSP00000419481.1:p.Leu120Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.333T>G
  hgvsp: ENSP00000420201.1:p.Leu112Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30476T>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-153T>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.87T>G
  hgvsp: ENSP00000397145.3:p.Leu30Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.736T>G
  hgvsp: ENSP00000419274.1:p.Leu246Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*519T>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30387T>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.736T>G
  hgvsp: ENSP00000420705.2:p.Leu246Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.595T>G
  hgvsp: ENSP00000418819.1:p.Leu199Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.736T>G
  hgvsp: ENSP00000418960.2:p.Leu246Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20274T>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.736T>G
  hgvsp: ENSP00000246907.4:p.Leu246Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-153T>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu246Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

17-41246814-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246814
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246814
    reference: chr 17
allele count: 1
allele frequency: 8.405056481979558e-6
allele num: 118976
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-155A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.734A>T
  hgvsp: ENSP00000419103.1:p.Asp245Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.331A>T
  hgvsp: ENSP00000420201.1:p.Asp111Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.731A>T
  hgvsp: ENSP00000420412.1:p.Asp244Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3765A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.85A>T
  hgvsp: ENSP00000397145.3:p.Asp29Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.593A>T
  hgvsp: ENSP00000418775.1:p.Asp198Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.359A>T
  hgvsp: ENSP00000418212.1:p.Asp120Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.593A>T
  hgvsp: ENSP00000418819.1:p.Asp198Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.734A>T
  hgvsp: ENSP00000246907.4:p.Asp245Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*670A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.734A>T
  hgvsp: ENSP00000420705.2:p.Asp245Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.734A>T
  hgvsp: ENSP00000350283.3:p.Asp245Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.356A>T
  hgvsp: ENSP00000419481.1:p.Asp119Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.734A>T
  hgvsp: ENSP00000419274.1:p.Asp245Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.656A>T
  hgvsp: ENSP00000419988.1:p.Asp219Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.798A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.734A>T
  hgvsp: ENSP00000326002.6:p.Asp245Val
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp245Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/17-41246815-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246815
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246815
    reference: chr 17
allele count: 1
allele frequency: 8.408307407718826e-6
allele num: 118930
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.733G>T
  hgvsp: ENSP00000419274.1:p.Asp245Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.730G>T
  hgvsp: ENSP00000420412.1:p.Asp244Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.358G>T
  hgvsp: ENSP00000418212.1:p.Asp120Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-156G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.592G>T
  hgvsp: ENSP00000418775.1:p.Asp198Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.733G>T
  hgvsp: ENSP00000418960.2:p.Asp245Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30473G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3766G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-156G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.733G>T
  hgvsp: ENSP00000350283.3:p.Asp245Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.592G>T
  hgvsp: ENSP00000418819.1:p.Asp198Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.84G>T
  hgvsp: ENSP00000397145.3:p.Asp29Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20277G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.733G>T
  hgvsp: ENSP00000419103.1:p.Asp245Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.355G>T
  hgvsp: ENSP00000419481.1:p.Asp119Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.655G>T
  hgvsp: ENSP00000419988.1:p.Asp219Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.733G>T
  hgvsp: ENSP00000417148.1:p.Asp245Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.797G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp245Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

17-41246835-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246835
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246835
    reference: chr 17
allele count: 1
allele frequency: 8.810727942342596e-6
allele num: 113498
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.338A>T
  hgvsp: ENSP00000418212.1:p.His113Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*496A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.713A>T
  hgvsp: ENSP00000326002.6:p.His238Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.335A>T
  hgvsp: ENSP00000419481.1:p.His112Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.713A>T
  hgvsp: ENSP00000419274.1:p.His238Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1028A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.713A>T
  hgvsp: ENSP00000419103.1:p.His238Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.572A>T
  hgvsp: ENSP00000418819.1:p.His191Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-176A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.713A>T
  hgvsp: ENSP00000246907.4:p.His238Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.713A>T
  hgvsp: ENSP00000417148.1:p.His238Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.635A>T
  hgvsp: ENSP00000419988.1:p.His212Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.713A>T
  hgvsp: ENSP00000420705.2:p.His238Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*649A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.310A>T
  hgvsp: ENSP00000420201.1:p.His104Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-176A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.710A>T
  hgvsp: ENSP00000420412.1:p.His237Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.777A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.713A>T
  hgvsp: ENSP00000350283.3:p.His238Leu
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His238Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

17-41246853-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246853
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246853
    reference: chr 17
allele count: 1
allele frequency: 9.851634386144662e-6
allele num: 101506
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-194A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.317A>G
  hgvsp: ENSP00000419481.1:p.Asp106Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.320A>G
  hgvsp: ENSP00000418212.1:p.Asp107Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.695A>G
  hgvsp: ENSP00000246907.4:p.Asp232Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.759A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.554A>G
  hgvsp: ENSP00000418819.1:p.Asp185Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.695A>G
  hgvsp: ENSP00000419274.1:p.Asp232Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.692A>G
  hgvsp: ENSP00000420412.1:p.Asp231Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*631A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.695A>G
  hgvsp: ENSP00000350283.3:p.Asp232Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1010A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.695A>G
  hgvsp: ENSP00000417148.1:p.Asp232Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.46A>G
  hgvsp: ENSP00000397145.3:p.Asp16Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.617A>G
  hgvsp: ENSP00000419988.1:p.Asp206Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.554A>G
  hgvsp: ENSP00000418775.1:p.Asp185Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30346A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.695A>G
  hgvsp: ENSP00000420705.2:p.Asp232Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.695A>G
  hgvsp: ENSP00000419103.1:p.Asp232Gly
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp232Gly
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

17-41246854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246854
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246854
    reference: chr 17
allele count: 1
allele frequency: 9.92417927037434e-6
allele num: 100764
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.691G>A
  hgvsp: ENSP00000420412.1:p.Asp231Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.694G>A
  hgvsp: ENSP00000418960.2:p.Asp232Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.291G>A
  hgvsp: ENSP00000420201.1:p.Asp98Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.45G>A
  hgvsp: ENSP00000397145.3:p.Asp16Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30345G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.758G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.694G>A
  hgvsp: ENSP00000420705.2:p.Asp232Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.319G>A
  hgvsp: ENSP00000418212.1:p.Asp107Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.316G>A
  hgvsp: ENSP00000419481.1:p.Asp106Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.694G>A
  hgvsp: ENSP00000417148.1:p.Asp232Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.694G>A
  hgvsp: ENSP00000419103.1:p.Asp232Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1009G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.616G>A
  hgvsp: ENSP00000419988.1:p.Asp206Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30434G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.694G>A
  hgvsp: ENSP00000326002.6:p.Asp232Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.694G>A
  hgvsp: ENSP00000246907.4:p.Asp232Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.694G>A
  hgvsp: ENSP00000350283.3:p.Asp232Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-195G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp232Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

17-41246855-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246855
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246855
    reference: chr 17
allele count: 4
allele frequency: 4.004404845329863e-5
allele num: 99890
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.690G>A
  hgvsp: ENST00000478531.1:c.690G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.615G>A
  hgvsp: ENST00000477152.1:c.615G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.693G>A
  hgvsp: ENST00000346315.3:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3806G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.693G>A
  hgvsp: ENST00000471181.2:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.318G>A
  hgvsp: ENST00000487825.1:c.318G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*476G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.693G>A
  hgvsp: ENST00000491747.2:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.552G>A
  hgvsp: ENST00000493795.1:c.552G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.693G>A
  hgvsp: ENST00000468300.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.44G>A
  hgvsp: ENST00000412061.3:c.44G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.315G>A
  hgvsp: ENST00000484087.1:c.315G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.693G>A
  hgvsp: ENST00000494123.1:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-196G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.693G>A
  hgvsp: ENST00000357654.3:c.693G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.290G>A
  hgvsp: ENST00000473961.1:c.290G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.757G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30433G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr231Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

17-41246856-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246856
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246856
    reference: chr 17
allele count: 8
allele frequency: 8.066630366830016e-5
allele num: 99174
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.614C>T
  hgvsp: ENSP00000419988.1:p.Thr205Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.317C>T
  hgvsp: ENSP00000418212.1:p.Thr106Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-197C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+1007C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.692C>T
  hgvsp: ENSP00000417148.1:p.Thr231Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.692C>T
  hgvsp: ENSP00000350283.3:p.Thr231Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.692C>T
  hgvsp: ENSP00000246907.4:p.Thr231Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.692C>T
  hgvsp: ENSP00000326002.6:p.Thr231Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-197C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20318C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.756C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.689C>T
  hgvsp: ENSP00000420412.1:p.Thr230Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.692C>T
  hgvsp: ENSP00000419274.1:p.Thr231Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.692C>T
  hgvsp: ENSP00000419103.1:p.Thr231Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*628C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.43C>T
  hgvsp: ENSP00000397145.3:p.Thr15Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.692C>T
  hgvsp: ENSP00000418960.2:p.Thr231Met
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.551C>T
  hgvsp: ENSP00000418819.1:p.Thr184Met
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr231Met
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

17-41246865-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246865
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246865
    reference: chr 17
allele count: 1
allele frequency: 1.090988435522583e-5
allele num: 91660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30334T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*466T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.280T>A
  hgvsp: ENSP00000420201.1:p.Phe94Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.305T>A
  hgvsp: ENSP00000419481.1:p.Phe102Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.683T>A
  hgvsp: ENSP00000419274.1:p.Phe228Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*619T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.747T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.680T>A
  hgvsp: ENSP00000420412.1:p.Phe227Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30423T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.605T>A
  hgvsp: ENSP00000419988.1:p.Phe202Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20327T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.683T>A
  hgvsp: ENSP00000417148.1:p.Phe228Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3816T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.683T>A
  hgvsp: ENSP00000420705.2:p.Phe228Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.34T>A
  hgvsp: ENSP00000397145.3:p.Phe12Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.542T>A
  hgvsp: ENSP00000418819.1:p.Phe181Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-206T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.308T>A
  hgvsp: ENSP00000418212.1:p.Phe103Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.683T>A
  hgvsp: ENSP00000350283.3:p.Phe228Tyr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.683T>A
  hgvsp: ENSP00000419103.1:p.Phe228Tyr
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe228Tyr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

17-41246879-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246879
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246879
    reference: chr 17
allele count: 1
allele frequency: 1.313991380216546e-5
allele num: 76104
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.668-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20341A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.671-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*454-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.22-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.593-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30409A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3830A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.671-2A>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.671-2A>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

17-41246885-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246885
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246885
    reference: chr 17
allele count: 8
allele frequency: 1.167985516979589e-4
allele num: 68494
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30403A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3836A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.671-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.671-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.593-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30314A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.671-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.22-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+978A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-8A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*607-8A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.671-8A>G
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-41246888-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246888
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246887
    reference: chr 17
allele count: 39
allele frequency: 6.027448071216617e-4
allele num: 64704
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.671-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*607-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+974delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20351delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*454-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30399delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.530-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30310delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-12delG
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.671-12delG
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: AC
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-41246889-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246889
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246889
    reference: chr 17
allele count: 1
allele frequency: 1.560159760359461e-5
allele num: 64096
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30310G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3840G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.671-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30399G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.530-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.668-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.22-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+974G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*454-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-12G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.593-12G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

17-41246892-AAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246889
    reference: chr 17
allele count: 1
allele frequency: 1.569809425135789e-5
allele num: 63702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20357_-43-20355delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.671-18_671-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-18_268-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-18_671-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-18_293-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-18_296-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-18_-218-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.668-18_668-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-18_530-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.671-18_671-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.530-18_530-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.593-18_593-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.671-18_671-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-18_-218-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-18_735-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3846_548-3844delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30393_-99+30395delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-18_671-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*454-18_*454-16delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30304_4+30306delATT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-18_671-16delATT
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: AAAT
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-41246895-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246895
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246895
    reference: chr 17
allele count: 1
allele frequency: 1.652400938563733e-5
allele num: 60518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*607-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*454-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3846A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.671-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.593-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30304A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.671-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20357A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30393A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.530-18A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+968A>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-41246898-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246898
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246898
    reference: chr 17
allele count: 1
allele frequency: 1.784312326029548e-5
allele num: 56044
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.671-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.671-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30301G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3849G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30390G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.22-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20360G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*607-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+965G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-21G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.668-21G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

17-41246905-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246905
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246905
    reference: chr 17
allele count: 1
allele frequency: 1.953964594161554e-5
allele num: 51178
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20367G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30383G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*454-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.530-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.593-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+958G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.671-28G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30294G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-28G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

17-41246925-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41246925
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41246926
    reference: chr 17
allele count: 1
allele frequency: 2.922096896733096e-5
allele num: 34222
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.735-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.671-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+30273dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.671-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.671-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-218-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.671-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-20388dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+30362dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.671-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.593-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.530-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*607-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.530-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.671-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*454-49dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.548-3877dupT
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/17-41247817-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247817
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247817
    reference: chr 17
allele count: 1
allele frequency: 1.061390846565339e-5
allele num: 94216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-940G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29382G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29471G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-940G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.667+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.529+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3975G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-940G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*453+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21279G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.529+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*606+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.670+46G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-219+46G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD

17-41247824-CTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247824
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247822
    reference: chr 17
allele count: 1
allele frequency: 1.04819605459005e-5
allele num: 95402
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3966_547+3967delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*453+37_*453+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21288_-43-21287delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.592+37_592+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.734+37_734+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29462_-99+29463delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-949_296-948delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.667+37_667+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-219+37_-219+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-949_268-948delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.670+37_670+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.529+37_529+38delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29373_4+29374delAA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-949_-218-948delAA
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
reference allele: CTT
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

17-41247837-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247837
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247837
    reference: chr 17
allele count: 3
allele frequency: 3.033489726581459e-5
allele num: 98896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.529+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.592+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.670+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.21+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-960C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.670+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-960C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.670+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-219+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.670+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.529+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-960C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.670+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*606+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.667+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3955C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29362C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21299C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.734+26C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*453+26C>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

17-41247846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247846
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247846
    reference: chr 17
allele count: 2
allele frequency: 1.949279741135651e-5
allele num: 102602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*606+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3946C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.529+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.529+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.670+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.21+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-969C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29353C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.592+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.667+17C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-969C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21308C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-969C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-969C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

17-41247847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247847
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247847
    reference: chr 17
allele count: 5
allele frequency: 4.82197276549782e-5
allele num: 103692
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-970G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-970G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3945G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.670+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.670+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.670+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-970G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.670+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.21+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.670+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29441G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.670+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21309G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.592+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29352G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.529+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.734+16G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-219+16G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-41247851-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247851
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247851
    reference: chr 17
allele count: 2
allele frequency: 1.888110567754848e-5
allele num: 105926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29348G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-974G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*453+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.592+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.734+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.529+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21313G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.667+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.529+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-974G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3941G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.670+12G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*606+12G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/17-41247872-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247872
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247872
    reference: chr 17
allele count: 1
allele frequency: 8.823010411152285e-6
allele num: 113340
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*444G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.661G>T
  hgvsp: ENSP00000417148.1:p.Ala221Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.658G>T
  hgvsp: ENSP00000420412.1:p.Ala220Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.661G>T
  hgvsp: ENSP00000419103.1:p.Ala221Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29416G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.12G>T
  hgvsp: ENSP00000397145.3:p.Ala5Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.661G>T
  hgvsp: ENSP00000326002.6:p.Ala221Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.520G>T
  hgvsp: ENSP00000418775.1:p.Ala174Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.661G>T
  hgvsp: ENSP00000312236.5:p.Ala221Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.583G>T
  hgvsp: ENSP00000419988.1:p.Ala195Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29327G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.658G>T
  hgvsp: ENSP00000417554.1:p.Ala220Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*597G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.520G>T
  hgvsp: ENSP00000418819.1:p.Ala174Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.661G>T
  hgvsp: ENSP00000420705.2:p.Ala221Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.661G>T
  hgvsp: ENSP00000246907.4:p.Ala221Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.725G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3920G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala221Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ

17-41247878-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247878
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247878
    reference: chr 17
allele count: 1
allele frequency: 8.745080891998251e-6
allele num: 114350
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1001G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.655G>A
  hgvsp: ENSP00000246907.4:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.719G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.655G>A
  hgvsp: ENSP00000420705.2:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29410G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.652G>A
  hgvsp: ENSP00000420412.1:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-234G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.655G>A
  hgvsp: ENSP00000419103.1:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.514G>A
  hgvsp: ENSP00000418775.1:p.Asp172Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.652G>A
  hgvsp: ENSP00000417554.1:p.Asp218Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.655G>A
  hgvsp: ENSP00000312236.5:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.6G>A
  hgvsp: ENSP00000397145.3:p.Asp3Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3914G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.655G>A
  hgvsp: ENSP00000326002.6:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.655G>A
  hgvsp: ENSP00000418960.2:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*438G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.655G>A
  hgvsp: ENSP00000350283.3:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.655G>A
  hgvsp: ENSP00000417148.1:p.Asp219Asn
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp219Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

17-41247881-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247881
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247881
    reference: chr 17
allele count: 1
allele frequency: 8.715964159955375e-6
allele num: 114732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.574T>C
  hgvsp: ENST00000477152.1:c.574T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.652T>C
  hgvsp: ENST00000352993.3:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.652T>C
  hgvsp: ENST00000346315.3:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.652T>C
  hgvsp: ENST00000470026.1:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000397145
  ensembl transcript: ENST00000412061
  gene symbol: BRCA1
  hgvsc: ENST00000412061.3:c.3T>C
  hgvsp: ENST00000412061.3:c.3T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.649T>C
  hgvsp: ENST00000476777.1:c.649T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*435T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21343T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3911T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-1004T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.511T>C
  hgvsp: ENST00000493795.1:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.716T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.652T>C
  hgvsp: ENST00000354071.3:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.511T>C
  hgvsp: ENST00000493919.1:c.511T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.652T>C
  hgvsp: ENST00000357654.3:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*588T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.649T>C
  hgvsp: ENST00000478531.1:c.649T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.652T>C
  hgvsp: ENST00000491747.2:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1004T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.652T>C
  hgvsp: ENST00000468300.1:c.652T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu218Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

17-41247892-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247892
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247892
    reference: chr 17
allele count: 2
allele frequency: 1.731002250302925e-5
allele num: 115540
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.563A>G
  hgvsp: ENSP00000419988.1:p.Asp188Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.641A>G
  hgvsp: ENSP00000420705.2:p.Asp214Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.500A>G
  hgvsp: ENSP00000418819.1:p.Asp167Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.638A>G
  hgvsp: ENSP00000420412.1:p.Asp213Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.641A>G
  hgvsp: ENSP00000326002.6:p.Asp214Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.705A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.500A>G
  hgvsp: ENSP00000418775.1:p.Asp167Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.641A>G
  hgvsp: ENSP00000312236.5:p.Asp214Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.638A>G
  hgvsp: ENSP00000417554.1:p.Asp213Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*577A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.641A>G
  hgvsp: ENSP00000419103.1:p.Asp214Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-1015A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.641A>G
  hgvsp: ENSP00000246907.4:p.Asp214Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.641A>G
  hgvsp: ENSP00000417148.1:p.Asp214Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29307A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21354A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.641A>G
  hgvsp: ENSP00000418960.2:p.Asp214Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-248A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp214Gly
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-41247907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247907
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247907
    reference: chr 17
allele count: 1
allele frequency: 8.689909277347145e-6
allele num: 115076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.626C>T
  hgvsp: ENSP00000417148.1:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21369C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.623C>T
  hgvsp: ENSP00000420412.1:p.Pro208Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.626C>T
  hgvsp: ENSP00000350283.3:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.548C>T
  hgvsp: ENSP00000419988.1:p.Pro183Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-263C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.485C>T
  hgvsp: ENSP00000418775.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3885C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29292C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.485C>T
  hgvsp: ENSP00000418819.1:p.Pro162Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.623C>T
  hgvsp: ENSP00000417554.1:p.Pro208Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.626C>T
  hgvsp: ENSP00000418960.2:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*409C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.626C>T
  hgvsp: ENSP00000419274.1:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.626C>T
  hgvsp: ENSP00000326002.6:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.626C>T
  hgvsp: ENSP00000246907.4:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.626C>T
  hgvsp: ENSP00000420705.2:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1030C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.626C>T
  hgvsp: ENSP00000419103.1:p.Pro209Leu
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro209Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

17-41247910-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247910
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247910
    reference: chr 17
allele count: 3
allele frequency: 2.610329945705137e-5
allele num: 114928
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.620C>G
  hgvsp: ENSP00000420412.1:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.623C>G
  hgvsp: ENSP00000418960.2:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.545C>G
  hgvsp: ENSP00000419988.1:p.Thr182Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.623C>G
  hgvsp: ENSP00000326002.6:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.482C>G
  hgvsp: ENSP00000418775.1:p.Thr161Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.623C>G
  hgvsp: ENSP00000420705.2:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.623C>G
  hgvsp: ENSP00000312236.5:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.623C>G
  hgvsp: ENSP00000246907.4:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*406C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.482C>G
  hgvsp: ENSP00000418819.1:p.Thr161Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.623C>G
  hgvsp: ENSP00000417148.1:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-266C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29378C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3882C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.623C>G
  hgvsp: ENSP00000419103.1:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1033C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.623C>G
  hgvsp: ENSP00000350283.3:p.Thr208Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.620C>G
  hgvsp: ENSP00000417554.1:p.Thr207Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*559C>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr208Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-41247921-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247921
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247921
    reference: chr 17
allele count: 10
allele frequency: 8.816942636971204e-5
allele num: 113418
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.612G>C
  hgvsp: ENSP00000420705.2:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.612G>C
  hgvsp: ENSP00000417148.1:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1044G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-277G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.609G>C
  hgvsp: ENSP00000417554.1:p.Leu203Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21383G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.534G>C
  hgvsp: ENSP00000419988.1:p.Leu178Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.612G>C
  hgvsp: ENSP00000312236.5:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*548G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29367G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.471G>C
  hgvsp: ENSP00000418819.1:p.Leu157Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.612G>C
  hgvsp: ENSP00000419274.1:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.612G>C
  hgvsp: ENSP00000418960.2:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29278G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.471G>C
  hgvsp: ENSP00000418775.1:p.Leu157Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.612G>C
  hgvsp: ENSP00000246907.4:p.Leu204Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.609G>C
  hgvsp: ENSP00000420412.1:p.Leu203Phe
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3871G>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu204Phe
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-41247940-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247940
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247940
    reference: chr 17
allele count: 1
allele frequency: 9.145783793671118e-6
allele num: 109340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-295-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29259G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1063G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.594-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.516-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.591-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21402G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*377-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3852G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.594-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.594-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.594-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*530-1G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1063G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1063G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.658-1G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.594-1G>T
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-41247941-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247941
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247941
    reference: chr 17
allele count: 1
allele frequency: 9.166238908850921e-6
allele num: 109096
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*377-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29347A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.516-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29258A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.658-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1064A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1064A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.591-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.594-2A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-2A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.594-2A>G
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

17-41247941-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247941
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247941
    reference: chr 17
allele count: 2
allele frequency: 1.833247781770184e-5
allele num: 109096
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29258A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.594-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*377-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1064A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.591-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.594-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29347A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*530-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1064A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3851A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1064A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-295-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.594-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-1064A>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.594-2A>C
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

17-41247943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247943
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247943
    reference: chr 17
allele count: 1
allele frequency: 9.211326246753007e-6
allele num: 108562
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21405A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.591-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29256A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.594-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.594-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.658-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-295-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*377-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3849A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*530-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.594-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-4A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.594-4A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.594-4A>G
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

17-41247954-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247954
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247954
    reference: chr 17
allele count: 2
allele frequency: 1.898361713840955e-5
allele num: 105354
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.594-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.594-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.516-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1077G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21416G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29334G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1077G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.658-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.594-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29245G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*530-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.594-15G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-295-15G>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

17-41247959-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247959
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247959
    reference: chr 17
allele count: 1
allele frequency: 9.599508505164536e-6
allele num: 104172
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21421A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*530-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.591-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.516-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29240A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1082A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.594-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1082A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-295-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3833A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1082A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.594-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.594-20A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*377-20A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: T
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-41247973-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247973
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247973
    reference: chr 17
allele count: 43
allele frequency: 4.271806079872839e-4
allele num: 100660
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.516-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21435T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1096T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.591-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.658-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29226T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3819T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1096T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1096T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-34T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29315T>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-41247983-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247983
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247983
    reference: chr 17
allele count: 1
allele frequency: 1.031310589497133e-5
allele num: 96964
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.594-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.658-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-1106A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.516-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21445A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1106A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.594-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1106A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3809A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.594-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.594-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29216A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29305A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*530-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*377-44A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-44A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-41247987-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41247987
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41247987
    reference: chr 17
allele count: 1
allele frequency: 1.054629824931449e-5
allele num: 94820
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+29301A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-21449A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.594-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.516-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-295-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*530-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+29212A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.594-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.594-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.594-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-1110A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-1110A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.453-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+3805A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.453-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.658-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.594-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-1110A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-1110A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.591-48A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.594-48A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

17-41249232-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249232
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249232
    reference: chr 17
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.515+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.590+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-2355A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+2560A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2355A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2355A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-2355A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+28056A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+27967A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-22694A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.452+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.452+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*529+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.593+29A>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-41249245-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249245
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249245
    reference: chr 17
allele count: 2
allele frequency: 1.650301179965344e-5
allele num: 121190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-2368C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*376+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.452+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2368C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.515+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+28043C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+2547C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+27954C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.452+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-296+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-2368C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.593+16C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2368C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.657+16C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

17-41249248-CTCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249248
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249244
    reference: chr 17
allele count: 2
allele frequency: 1.650246711883427e-5
allele num: 121194
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.590+9_590+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*529+9_*529+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*376+9_*376+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2375_296-2372delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.515+9_515+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-22714_-43-22711delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+2540_547+2543delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.590+9_590+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.452+9_452+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2375_-218-2372delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.593+9_593+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-296+9_-296+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.452+9_452+12delAAGA
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: CTCTT
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

17-41249252-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249252
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249252
    reference: chr 17
allele count: 2
allele frequency: 1.650328415354656e-5
allele num: 121188
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.515+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+28036A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-296+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-22714A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.593+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.593+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.593+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.593+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+27947A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.452+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.593+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2375A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420201
  ensembl transcript: ENST00000473961
  gene symbol: BRCA1
  hgvsc: ENST00000473961.1:c.268-2375A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.593+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.657+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+2540A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.593+9A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2375A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.590+9A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum

17-41249258-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249258
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249258
    reference: chr 17
allele count: 4
allele frequency: 3.300602359930687e-5
allele num: 121190
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+2534G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-22720G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*376+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2381G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*529+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.657+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.590+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.593+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.515+3G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.452+3G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.593+3G>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

17-41249263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249263
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249263
    reference: chr 17
allele count: 178
allele frequency: 1.468986234443601e-3
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.450C>T
  hgvsp: ENST00000493919.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.450C>T
  hgvsp: ENST00000493795.1:c.450C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+28025C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.588C>T
  hgvsp: ENST00000476777.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.591C>T
  hgvsp: ENST00000470026.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2386C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.591C>T
  hgvsp: ENST00000471181.2:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.588C>T
  hgvsp: ENST00000478531.1:c.588C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2386C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.513C>T
  hgvsp: ENST00000477152.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.591C>T
  hgvsp: ENST00000352993.3:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+27936C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.591C>T
  hgvsp: ENST00000491747.2:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.591C>T
  hgvsp: ENST00000494123.1:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.591C>T
  hgvsp: ENST00000354071.3:c.591C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*527C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*374C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.591C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ

17-41249275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249275
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249275
    reference: chr 17
allele count: 1
allele frequency: 8.254230293025175e-6
allele num: 121150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.579G>A
  hgvsp: ENST00000471181.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.576G>A
  hgvsp: ENST00000476777.1:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.579G>A
  hgvsp: ENST00000494123.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.579G>A
  hgvsp: ENST00000357654.3:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.579G>A
  hgvsp: ENST00000346315.3:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.643G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+27924G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.438G>A
  hgvsp: ENST00000493795.1:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.579G>A
  hgvsp: ENST00000352993.3:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-22737G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.579G>A
  hgvsp: ENST00000354071.3:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+2517G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.576G>A
  hgvsp: ENST00000478531.1:c.576G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.438G>A
  hgvsp: ENST00000493919.1:c.438G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.579G>A
  hgvsp: ENST00000491747.2:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2398G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.579G>A
  hgvsp: ENST00000468300.1:c.579G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2398G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-310G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*362G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys193Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP

17-41249282-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249282
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249282
    reference: chr 17
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2405T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.572T>A
  hgvsp: ENSP00000418960.2:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*355T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.572T>A
  hgvsp: ENSP00000312236.5:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420253
  ensembl transcript: ENST00000492859
  gene symbol: BRCA1
  hgvsc: ENST00000492859.1:c.*508T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.572T>A
  hgvsp: ENSP00000246907.4:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.494T>A
  hgvsp: ENSP00000419988.1:p.Val165Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419103
  ensembl transcript: ENST00000494123
  gene symbol: BRCA1
  hgvsc: ENST00000494123.1:c.572T>A
  hgvsp: ENSP00000419103.1:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.547+2510T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.636T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.569T>A
  hgvsp: ENSP00000417554.1:p.Val190Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.431T>A
  hgvsp: ENSP00000418775.1:p.Val144Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-22744T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-317T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.572T>A
  hgvsp: ENSP00000417148.1:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.572T>A
  hgvsp: ENSP00000326002.6:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.572T>A
  hgvsp: ENSP00000420705.2:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.572T>A
  hgvsp: ENSP00000350283.3:p.Val191Asp
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val191Asp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

17-41249283-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249283
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249283
    reference: chr 17
allele count: 36
allele frequency: 2.972798890155081e-4
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*354G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418819
  ensembl transcript: ENST00000493919
  gene symbol: BRCA1
  hgvsc: ENST00000493919.1:c.430G>A
  hgvsp: ENSP00000418819.1:p.Val144Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.-318G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419481
  ensembl transcript: ENST00000484087
  gene symbol: BRCA1
  hgvsc: ENST00000484087.1:c.293-2406G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.4+27916G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.571G>A
  hgvsp: ENSP00000246907.4:p.Val191Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.571G>A
  hgvsp: ENSP00000326002.6:p.Val191Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.571G>A
  hgvsp: ENSP00000418960.2:p.Val191Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417554
  ensembl transcript: ENST00000476777
  gene symbol: BRCA1
  hgvsc: ENST00000476777.1:c.568G>A
  hgvsp: ENSP00000417554.1:p.Val190Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418212
  ensembl transcript: ENST00000487825
  gene symbol: BRCA1
  hgvsc: ENST00000487825.1:c.296-2406G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.430G>A
  hgvsp: ENSP00000418775.1:p.Val144Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.571G>A
  hgvsp: ENSP00000420705.2:p.Val191Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-99+28005G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.571G>A
  hgvsp: ENSP00000417148.1:p.Val191Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420412
  ensembl transcript: ENST00000478531
  gene symbol: BRCA1
  hgvsc: ENST00000478531.1:c.568G>A
  hgvsp: ENSP00000420412.1:p.Val190Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419988
  ensembl transcript: ENST00000477152
  gene symbol: BRCA1
  hgvsc: ENST00000477152.1:c.493G>A
  hgvsp: ENSP00000419988.1:p.Val165Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.571G>A
  hgvsp: ENSP00000350283.3:p.Val191Ile
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000012048
  ensembl transcript: ENST00000467274
  gene symbol: BRCA1
  hgvsc: ENST00000467274.1:n.635G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val191Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

17-41249284-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41249284
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41249284
    reference: chr 17
allele count: 4
allele frequency: 3.30338266384778e-5
allele num: 121088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000419274
  ensembl transcript: ENST00000470026
  gene symbol: BRCA1
  hgvsc: ENST00000470026.1:c.570C>T
  hgvsp: ENST00000470026.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.570C>T
  hgvsp: ENST00000471181.2:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418986
  ensembl transcript: ENST00000497488
  gene symbol: BRCA1
  hgvsc: ENST00000497488.1:c.-218-2407C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.-43-22746C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*353C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.570C>T
  hgvsp: ENST00000468300.1:c.570C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.429C>T
  hgvsp: ENST00000493795.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Thr190Thr
num of homozygotes: 0
reference allele: G

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30535T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.717T>C
hgvsp: ENST00000477152.1:c.717T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3704T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.646+8T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+1110T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.859T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.795T>C
hgvsp: ENST00000354071.3:c.795T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 27
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 5

GenotypeDepth
all individuals: 839
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1235
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25928
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 75
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 195
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6204
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24622
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 24
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 9.75e1
variant carriers: 27

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 27
allele frequency: 3.120665742024965e-3
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

FS
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.539681e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.787+4_787+7delGTTC
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.855_858delGTTC
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-98_-95delGTTC
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-98_-95delGTTC
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20219_-43-20216delGTTC
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30442_4+30445delGTTC
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30531_-99+30534delGTTC
variant of: http://identifiers.org/hgnc/1100

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

GenotypeDepth
all individuals: 15
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24622
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6204
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 195
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25928
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1235
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 15
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 731
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48285
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
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: 904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.171e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.44e-1

FS
type: SiteQuality
SIO_000300: 1.18e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.12e0

DP
type: SiteQuality
SIO_000300: 1.539681e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3731G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*551G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.365G>A
hgvsp: ENST00000473961.1:c.365G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-121G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+1083G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.627G>A
hgvsp: ENST00000493919.1:c.627G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 281
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 290
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24903
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6206
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 62
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 938
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1066
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25755
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48213
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1319
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5964
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 193
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16150
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.60235947258848e-4
allele num: 11528
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.536359e6

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.776e0

QD
type: SiteQuality
SIO_000300: 1.284e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.933e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3733A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+1081A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-123A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.117A>C
hgvsp: ENST00000412061.3:c.117A>C(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30506A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.830A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30417A>C
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 73
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25788
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 995
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6215
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24949
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 824
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1338
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 389
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5985
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66482
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

QD
type: SiteQuality
SIO_000300: 1.225e1

DP
type: SiteQuality
SIO_000300: 1.536915e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

FS
type: SiteQuality
SIO_000300: 3.219e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

MQ
type: SiteQuality
SIO_000300: 5.911e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-124G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
clinical significance: benign&likely_benign
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.765G>A
hgvsp: ENST00000471181.2:c.765G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.116G>A
hgvsp: ENST00000412061.3:c.116G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.765G>A
hgvsp: ENST00000357654.3:c.765G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.624G>A
hgvsp: ENST00000493795.1:c.624G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.829G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*548G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30505G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 6206
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 24918
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 827
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 40
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 72
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 6
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 25781
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 929
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 154
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 280
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 9.75e1
variant carriers: 10

GenotypeDepth
all individuals: 8
bin: 8.75e1
variant carriers: 4

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 26
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 48182
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1339
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 9.75e1
variant carriers: 42

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 860
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5993
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 418
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.683570684265369e-5
allele num: 11516
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504664459825459e-5
allele num: 66460
num of homozygotes: 0

African
type: Population
allele count: 40
allele frequency: 3.868471953578337e-3
allele num: 10340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.18e-1

DP
type: SiteQuality
SIO_000300: 1.537537e6

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 1.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.14e0

QD
type: SiteQuality
SIO_000300: 1.427e1

MQ
type: SiteQuality
SIO_000300: 5.959e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*533G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.609G>A
hgvsp: ENST00000493919.1:c.609G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+1065G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3749G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.750G>A
hgvsp: ENST00000491747.2:c.750G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.814G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6235
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 38
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25821
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 824
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25074
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 627
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 959
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48229
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6044
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1169
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66282
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.172e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.98e0

VQSLOD
type: SiteQuality
SIO_000300: -1.729e0

MQRankSum
type: SiteQuality
SIO_000300: 2.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 2.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 1.534143e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.738G>C
hgvsp: ENSP00000350283.3:p.Leu246Phe
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.802G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3761G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.738G>C
hgvsp: ENSP00000246907.4:p.Leu246Phe
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*521G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.738G>C
hgvsp: ENSP00000420705.2:p.Leu246Phe
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1128
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 813
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 491
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 884
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25483
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25149
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6082
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47731
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5892
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1663
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520403819254394e-5
allele num: 65772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.08e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.909999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.856e0

VQSLOD
type: SiteQuality
SIO_000300: 7.6e-1

DP
type: SiteQuality
SIO_000300: 1.523692e6

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.733T>G
hgvsp: ENSP00000420412.1:p.Leu245Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.361T>G
hgvsp: ENSP00000418212.1:p.Leu121Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3763T>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.736T>G
hgvsp: ENSP00000417148.1:p.Leu246Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419103
ensembl transcript: ENST00000494123
gene symbol: BRCA1
hgvsc: ENST00000494123.1:c.736T>G
hgvsp: ENSP00000419103.1:p.Leu246Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.595T>G
hgvsp: ENSP00000418775.1:p.Leu199Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.736T>G
hgvsp: ENSP00000326002.6:p.Leu246Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*672T>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1253
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25330
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6028
bin: 3.25e1
variant carriers: 3

GenotypeDepth
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 145
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 1036
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 25053
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 260
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 14
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1918
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 9.75e1
variant carriers: 26

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1347
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5884
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 3.810975609756098e-4
allele num: 65600
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.81057268722467e-5
allele num: 11350
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.518417e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.9e0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.421e1

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.734A>T
hgvsp: ENSP00000417148.1:p.Asp245Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+1049A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20276A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30385A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.734A>T
hgvsp: ENSP00000418960.2:p.Asp245Val
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30474A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-155A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*517A>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1140
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 537
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25238
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24994
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6008
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 773
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1343
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2098
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47218
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5888
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527417137620284e-5
allele num: 65470
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.514356e6

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.016e0

MQ
type: SiteQuality
SIO_000300: 5.879e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e0

QD
type: SiteQuality
SIO_000300: 1.062e1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*516G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.733G>T
hgvsp: ENSP00000246907.4:p.Asp245Tyr
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.733G>T
hgvsp: ENSP00000326002.6:p.Asp245Tyr
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*669G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.733G>T
hgvsp: ENSP00000420705.2:p.Asp245Tyr
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30384G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.330G>T
hgvsp: ENSP00000420201.1:p.Asp111Tyr
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+1048G>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 25240
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1141
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24984
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 785
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6027
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1345
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 515
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2096
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 457
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47309
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5848
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.922603691208574e-5
allele num: 10078
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.32e0

DP
type: SiteQuality
SIO_000300: 1.514999e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.866e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.292e0

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.713A>T
hgvsp: ENSP00000418960.2:p.His238Leu
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.572A>T
hgvsp: ENSP00000418775.1:p.His191Leu
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3786A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30364A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20297A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30453A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.64A>T
hgvsp: ENSP00000397145.3:p.His22Leu
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 5204
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 131
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23152
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 712
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22318
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3749
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3817
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5234
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1167
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 512
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6778
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41973
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.606425702811245e-5
allele num: 62250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8158
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.67e0

DP
type: SiteQuality
SIO_000300: 1.423735e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

FS
type: SiteQuality
SIO_000300: 2.94e0

VQSLOD
type: SiteQuality
SIO_000300: -1.152e0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.695A>G
hgvsp: ENSP00000326002.6:p.Asp232Gly
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.292A>G
hgvsp: ENSP00000420201.1:p.Asp98Gly
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.695A>G
hgvsp: ENSP00000418960.2:p.Asp232Gly
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20315A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-194A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3804A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30435A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*478A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3887
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9350
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17953
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16185
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 407
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1936
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9756
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1187
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 659
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17232
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1396
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4016
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7226
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.812053781756243e-5
allele num: 55186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14820
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.779e0

MQRankSum
type: SiteQuality
SIO_000300: 2.1e0

FS
type: SiteQuality
SIO_000300: 2.702e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.098e0

DP
type: SiteQuality
SIO_000300: 1.226392e6

MQ
type: SiteQuality
SIO_000300: 5.777e1

QD
type: SiteQuality
SIO_000300: 5.68e0

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.553G>A
hgvsp: ENSP00000418819.1:p.Asp185Asn
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.553G>A
hgvsp: ENSP00000418775.1:p.Asp185Asn
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3805G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-195G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*630G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*477G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20316G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.694G>A
hgvsp: ENSP00000419274.1:p.Asp232Asn
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 15874
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 421
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 585
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3831
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1969
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17698
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10036
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9654
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 215
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17764
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 920
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30152
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 655
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 443
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14772
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.87e1

QD
type: SiteQuality
SIO_000300: 1.219e1

FS
type: SiteQuality
SIO_000300: 1.077e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.495e0

DP
type: SiteQuality
SIO_000300: 1.216326e6

VQSLOD
type: SiteQuality
SIO_000300: -1.165e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-1

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-196G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*629G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.693G>A
hgvsp: ENST00000470026.1:c.693G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.693G>A
hgvsp: ENST00000354071.3:c.693G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.552G>A
hgvsp: ENST00000493919.1:c.552G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30344G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+1008G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20317G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 443
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3721
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 579
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 10021
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10383
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1977
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15530
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 705
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29475
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 534
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18418
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.71174255391989e-4
allele num: 5842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.534238488783943e-5
allele num: 54208
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14712
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.163e1

FS
type: SiteQuality
SIO_000300: 3.395e0

DP
type: SiteQuality
SIO_000300: 1.203989e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.63e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.314C>T
hgvsp: ENSP00000419481.1:p.Thr105Met
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*475C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.692C>T
hgvsp: ENSP00000420705.2:p.Thr231Met
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+30432C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.551C>T
hgvsp: ENSP00000418775.1:p.Thr184Met
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30343C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.289C>T
hgvsp: ENSP00000420201.1:p.Thr97Met
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3807C>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 468
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17168
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 3589
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1961
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10359
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10758
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15204
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 557
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1518
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1247
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 549
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19075
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 28972
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3821
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.725909772386534e-4
allele num: 14674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.726519337016575e-4
allele num: 5792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.390057361376673e-4
allele num: 8368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.860049849335962e-5
allele num: 53762
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7040
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.66e-1

DP
type: SiteQuality
SIO_000300: 1.191329e6

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

FS
type: SiteQuality
SIO_000300: 6.895e0

MQRankSum
type: SiteQuality
SIO_000300: 7.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.01e0

QD
type: SiteQuality
SIO_000300: 1.132e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.683T>A
hgvsp: ENSP00000418960.2:p.Phe228Tyr
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.542T>A
hgvsp: ENSP00000418775.1:p.Phe181Tyr
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.683T>A
hgvsp: ENSP00000246907.4:p.Phe228Tyr
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-206T>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+998T>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.683T>A
hgvsp: ENSP00000326002.6:p.Phe228Tyr
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 2099
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13192
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14527
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13803
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3019
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 829
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12042
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 520
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22848
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 917
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1602
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2011
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 257
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3213
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25510
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49248
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.274859765425803e-4
allele num: 7844
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.962e0

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 1.072548e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.03e-1

QD
type: SiteQuality
SIO_000300: 1.201e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-218-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_acceptor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*607-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.530-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.671-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+30320A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+984A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.671-2A>C
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1994
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1867
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19076
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6618
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3008
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7359
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19651
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1919
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12012
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 541
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33819
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3263
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2716
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.531393568147014e-4
allele num: 6530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4552
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40122
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 652
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.800000000000001e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.60972e5

VQSLOD
type: SiteQuality
SIO_000300: -6.902e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e-1

QD
type: SiteQuality
SIO_000300: 4.98e0

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-8A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*454-8A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.668-8A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-8A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.530-8A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20347A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-8A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.671-8A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1634
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4934
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19755
bin: 1.25e1
variant carriers: 6

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1505
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 20752
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 5036
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5989
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9186
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1907
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 663
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 174
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34452
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5430
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1039
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 439
bin: 9.75e1
variant carriers: 7

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5328
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12416
num of homozygotes: 0

East Asian
type: Population
allele count: 8
allele frequency: 1.795332136445242e-3
allele num: 4456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 35620
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

DP
type: SiteQuality
SIO_000300: 7.80984e5

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.593-12delG
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.671-12delG
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.22-12delG
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3840delG
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.668-12delG
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-12delG
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.671-12delG
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 6397
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1379
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 296
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 15
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 56
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 5389
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 11
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1635
bin: 1.75e1
variant carriers: 6

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 4354
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21092
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 19304
bin: 1.25e1
variant carriers: 9

GenotypeDepth
all individuals: 124
bin: 4.75e1
variant carriers: 4

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 164
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 9.75e1
variant carriers: 40

GenotypeQuality
all individuals: 196
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6843
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7952
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33275
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 309
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2591
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 980
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1436
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 39
allele frequency: 3.220478943022296e-3
allele num: 12110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 33332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4902
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4148
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.87e-1

DP
type: SiteQuality
SIO_000300: 7.49232e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

FS
type: SiteQuality
SIO_000300: 4.554e0

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

Annotation
canonical: false
clinical significance: benign
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.735-12G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-12G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.671-12G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.671-12G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-20351G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.671-12G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*607-12G>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 5383
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19239
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21178
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1365
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6420
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4355
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1585
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6901
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33485
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1422
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4106
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.028467595396729e-5
allele num: 33020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11998
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.927e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.76e0

FS
type: SiteQuality
SIO_000300: 2.341e0

VQSLOD
type: SiteQuality
SIO_000300: -2.733e0

QD
type: SiteQuality
SIO_000300: 5.2e0

DP
type: SiteQuality
SIO_000300: 7.46762e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.671-18_671-16delATT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.22-18_22-16delATT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.671-18_671-16delATT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*607-18_*607-16delATT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+968_670+970delATT
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 6880
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19089
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1333
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21386
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4233
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5198
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33870
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 485
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1937
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7329
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 135
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8043
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.054181174027243e-5
allele num: 32742
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3994
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12014
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

DP
type: SiteQuality
SIO_000300: 7.36991e5

VQSLOD
type: SiteQuality
SIO_000300: 2.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.268e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.494e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.671-18A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.668-18A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-18A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.22-18A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.671-18A>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 21395
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1530
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3835
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18595
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1285
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8158
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4703
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1362
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8734
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1354
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 343
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1477
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2595
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2037
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11758
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3812
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5292
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.271694684234439e-4
allele num: 4402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3848
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.96e-1

QD
type: SiteQuality
SIO_000300: 1.955e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.79e-2

DP
type: SiteQuality
SIO_000300: 7.1266e5

VQSLOD
type: SiteQuality
SIO_000300: -2.062e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.45e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.671-21G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.530-21G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*454-21G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.671-21G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.593-21G>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1214
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4228
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10107
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21451
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 165
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17320
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3471
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1596
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2227
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29321
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 727
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10828
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2592
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6230
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 449
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 478
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3656
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.623294858342078e-4
allele num: 3812
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.387e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.515e0

QD
type: SiteQuality
SIO_000300: 2.2e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.80989e5

MQRankSum
type: SiteQuality
SIO_000300: -1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.548-3856G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*607-28G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.22-28G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-28G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.668-28G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1598
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12263
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3839
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3132
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15557
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21722
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1129
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13195
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2497
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2054
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26997
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5688
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25460
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.239140170174653e-4
allele num: 4466
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11114
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.219e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e0

MQRankSum
type: SiteQuality
SIO_000300: -2.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.563e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.54e-2

DP
type: SiteQuality
SIO_000300: 6.45598e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.671-49dupT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.22-49dupT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+937dupT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.668-49dupT
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.671-49dupT
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8208
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2310
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 13
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2271
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 974
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25556
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15885
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3159
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 163
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7318
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16461
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3482
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 637
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3059
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11725
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7556
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.301991429291656e-5
allele num: 15868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2960
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1654
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.92e-2

DP
type: SiteQuality
SIO_000300: 5.51847e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.7e-2

QD
type: SiteQuality
SIO_000300: 8.94e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 6.035e1

VQSLOD
type: SiteQuality
SIO_000300: 4.82e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-940G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.21+46G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.670+46G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.592+46G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.734+46G>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9058
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6558
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18502
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2589
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 924
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1230
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1193
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11777
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2728
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 949
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3669
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7646
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1240
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6842
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6624
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4605
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1461
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.983182611454863e-5
allele num: 50424
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8730
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5276
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.418412e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.488e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.31e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-949_293-948delAA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.529+37_529+38delAA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.670+37_670+38delAA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.21+37_21+38delAA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*606+37_*606+38delAA
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 17583
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10496
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6067
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 11787
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 924
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2828
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 555
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11570
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7411
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6056
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2250
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1345
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5352
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.958250107703756e-5
allele num: 51066
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 1.447904e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.451e0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29451C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-960C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.670+26C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.670+26C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.670+26C>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 925
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11072
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10698
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21093
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2443
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3891
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 316
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1398
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4807
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11165
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8869
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 848
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2917
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.322995126273815e-4
allele num: 9028
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7352
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53198
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 748
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.437e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.558575e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 2.049e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*453+17C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.670+17C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29442C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.734+17C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-219+17C>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 8773
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1654
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 161
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 26559
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7012
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4981
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 953
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1746
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1788
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 9322
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3070
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8867
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 27337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1940
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2418
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.803296425866484e-5
allele num: 55454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5698
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9188
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.963788300835655e-5
allele num: 14360
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.269e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.641452e6

FS
type: SiteQuality
SIO_000300: 5.013e0

QD
type: SiteQuality
SIO_000300: 8.710000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.98e-1

Annotation
canonical: false
clinical significance: likely_benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*606+16G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.670+16G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: likely_benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*453+16G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.667+16G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.529+16G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.670+16G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-970G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 5180
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1538
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6648
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1676
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 395
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 932
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8545
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1693
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 152
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 27166
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 824
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28243
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9088
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2852
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2079
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8870
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 745
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 725
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.905123601712471e-5
allele num: 14482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.128854036713598e-5
allele num: 56110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9556
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 2.035e0

DP
type: SiteQuality
SIO_000300: 1.648994e6

QD
type: SiteQuality
SIO_000300: 1.317e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.549e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29437G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-974G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-974G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000397145
ensembl transcript: ENST00000412061
gene symbol: BRCA1
hgvsc: ENST00000412061.3:c.21+12G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-219+12G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 116
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29874
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1533
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 855
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7532
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5073
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5499
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1282
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 817
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8041
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8867
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 737
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2198
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31869
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.368363437328955e-4
allele num: 14616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9852
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5826
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 9.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.21e-1

QD
type: SiteQuality
SIO_000300: 1.253e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
SIO_000300: 1.633e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

DP
type: SiteQuality
SIO_000300: 1.682597e6

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-228G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.661G>T
hgvsp: ENSP00000350283.3:p.Ala221Ser
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-995G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.661G>T
hgvsp: ENSP00000419274.1:p.Ala221Ser
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-21334G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-995G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.661G>T
hgvsp: ENSP00000418960.2:p.Ala221Ser
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-995G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-995G>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1850
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7536
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3910
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 825
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 817
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34921
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1813
bin: 3.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8871
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 741
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 799
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 393
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2580
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38407
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 745
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9714
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15314
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.608596338834733e-5
allele num: 62166
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.101e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.78448e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.298e0

FS
type: SiteQuality
SIO_000300: 1.745e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.514G>A
hgvsp: ENSP00000418819.1:p.Asp172Asn
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-21340G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.655G>A
hgvsp: ENSP00000419274.1:p.Asp219Asn
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.577G>A
hgvsp: ENSP00000419988.1:p.Asp193Asn
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*591G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1001G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-1001G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+29321G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-1001G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 745
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3474
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35440
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1618
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7864
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 948
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39391
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3960
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 813
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15410
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62832
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023541453428864e-4
allele num: 9770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.73e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e0

QD
type: SiteQuality
SIO_000300: 1.223e1

FS
type: SiteQuality
SIO_000300: 4.12e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.559e0

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

DP
type: SiteQuality
SIO_000300: 1.794869e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+29318T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-1004T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419103
ensembl transcript: ENST00000494123
gene symbol: BRCA1
hgvsc: ENST00000494123.1:c.652T>C
hgvsp: ENST00000494123.1:c.652T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-237T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29407T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-1004T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.652T>C
hgvsp: ENST00000471181.2:c.652T>C(p.%3D)
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 944
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1728
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 733
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1533
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3303
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7996
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35584
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 542
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 773
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39447
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2699
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 606
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8871
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63086
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.211495946941784e-5
allele num: 10856
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15456
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.799066e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.95e0

VQSLOD
type: SiteQuality
SIO_000300: -1.235e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.547+3900A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.641A>G
hgvsp: ENSP00000419274.1:p.Asp214Gly
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-1015A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29396A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*424A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.641A>G
hgvsp: ENSP00000350283.3:p.Asp214Gly
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-1015A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-1015A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 2900
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1396
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8411
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35789
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1742
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3491
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8871
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 422
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40293
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15590
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10936
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.147227292755083e-5
allele num: 63548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.165e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

DP
type: SiteQuality
SIO_000300: 1.810047e6

MQ
type: SiteQuality
SIO_000300: 5.938e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.78e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29381C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-1030C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.690C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-1030C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1030C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.626C>T
hgvsp: ENSP00000312236.5:p.Pro209Leu
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 3114
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2122
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8942
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 826
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34067
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1807
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 599
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8869
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 756
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2678
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10890
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63232
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15552
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.005e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.477e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 1.804004e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
SIO_000300: 1.14e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-1033C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.623C>G
hgvsp: ENSP00000419274.1:p.Thr208Ser
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1033C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.687C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-1033C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+29289C>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-21372C>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1788
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3185
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2271
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9007
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 830
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33786
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8870
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 31
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 738
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 589
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.932740626207963e-4
allele num: 15522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 1.801478e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.208e1

FS
type: SiteQuality
SIO_000300: 6.188e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.8e-1

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.676G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*395G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419103
ensembl transcript: ENST00000494123
gene symbol: BRCA1
hgvsc: ENST00000494123.1:c.612G>C
hgvsp: ENSP00000419103.1:p.Leu204Phe
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1044G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.612G>C
hgvsp: ENSP00000350283.3:p.Leu204Phe
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-1044G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-1044G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.612G>C
hgvsp: ENSP00000326002.6:p.Leu204Phe
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1127
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31442
bin: 2.25e1
variant carriers: 3

GenotypeDepth
all individuals: 8922
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1747
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 857
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 939
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3709
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3913
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5874
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8877
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36649
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.60942479157949e-4
allele num: 62134
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10680
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.264e0

MQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

QD
type: SiteQuality
SIO_000300: 1.246e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

DP
type: SiteQuality
SIO_000300: 1.775335e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

Annotation
canonical: false
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.594-1G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.594-1G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29348G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.594-1G>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1063G>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1969
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1678
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8516
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8036
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5842
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 24748
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 111
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 937
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10395
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29500
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8869
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 315
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 680
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.674676278200507e-5
allele num: 14982
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6166
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59612
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.771e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

DP
type: SiteQuality
SIO_000300: 1.690457e6

VQSLOD
type: SiteQuality
SIO_000300: 6.31e-1

QD
type: SiteQuality
SIO_000300: 1.074e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.326e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.23e-1

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1064A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-21403A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-1064A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-295-2A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.547+3851A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419103
ensembl transcript: ENST00000494123
gene symbol: BRCA1
hgvsc: ENST00000494123.1:c.594-2A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*530-2A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24264
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2048
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8894
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7957
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5973
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10725
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8870
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14958
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.681067814275628e-5
allele num: 59486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.925e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

FS
type: SiteQuality
SIO_000300: 9.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.683551e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.516-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.594-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.594-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-21403A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
consequence: non_coding_transcript_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.658-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.594-2A>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided&pathogenic
consequence: splice_acceptor_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419103
ensembl transcript: ENST00000494123
gene symbol: BRCA1
hgvsc: ENST00000494123.1:c.594-2A>C
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7957
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 24264
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5973
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8894
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2048
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 821
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1086
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8870
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2107
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10725
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 445
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9588
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.362135628551256e-5
allele num: 59486
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14958
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

FS
type: SiteQuality
SIO_000300: 9.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.54e-1

DP
type: SiteQuality
SIO_000300: 1.683551e6

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.08e0

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.453-4A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.594-4A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.516-4A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-1066A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29345A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-1066A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.594-4A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1066A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-1066A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6202
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7731
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2238
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23288
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9681
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 928
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1635
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2551
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 668
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8868
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2061
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27798
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14910
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.044713748432929e-4
allele num: 9572
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 5.903e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 1.669827e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.102e1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.594-15G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-1077G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.594-15G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1077G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.591-15G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*377-15G>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.547+3838G>C
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 857
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 840
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6434
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3445
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15059
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 345
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1563
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16578
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7486
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2025
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4317
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8867
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1724
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9394
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6012
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.49577011815703e-5
allele num: 57212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7670
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14664
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.16e-1

DP
type: SiteQuality
SIO_000300: 1.581987e6

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.507e1

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.594-20A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.658-20A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.594-20A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+29329A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.594-20A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418775
ensembl transcript: ENST00000493795
gene symbol: BRCA1
hgvsc: ENST00000493795.1:c.453-20A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1082A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17604
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4426
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 495
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5504
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7922
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1468
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13492
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 922
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1692
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8866
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2663
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5407
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16047
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 628
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16311
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.770412860279017e-5
allele num: 56484
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7604
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9322
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.537608e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -4.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.42e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*530-34T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*377-34T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-1096T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-295-34T>C
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.594-34T>C
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 8591
bin: 1.75e1
variant carriers: 11

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 841
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 822
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 917
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 272
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8986
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 819
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20249
bin: 1.25e1
variant carriers: 7

GenotypeDepth
all individuals: 7215
bin: 2.25e1
variant carriers: 6

GenotypeDepth
all individuals: 3495
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 856
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 598
bin: 7.75e1
variant carriers: 3

GenotypeDepth
all individuals: 1289
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 395
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1088
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 657
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1697
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 5067
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1382
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 544
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7531
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8625
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4722
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1163
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 461
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8892
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.213193292795283e-5
allele num: 54270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9158
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.119570085087326e-4
allele num: 8932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5884
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.05322286195759e-3
allele num: 14242
num of homozygotes: 0

East Asian
type: Population
allele count: 18
allele frequency: 2.439024390243902e-3
allele num: 7380
num of homozygotes: 0

Other
type: Population
allele count: 4
allele frequency: 5.037783375314861e-3
allele num: 794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.628e1

DP
type: SiteQuality
SIO_000300: 1.452452e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 2.578e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-295-44A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.591-44A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.594-44A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-1106A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.594-44A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 911
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1691
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1271
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10930
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19071
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10619
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 818
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5295
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1185
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2534
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14204
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2119
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5583
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2354
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1737
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 540
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4763
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8865
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5146
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5746
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13930
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52064
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.11731843575419e-4
allele num: 8950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.47e-1

DP
type: SiteQuality
SIO_000300: 1.417298e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.337e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.694e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*377-48A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.594-48A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.591-48A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.594-48A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420705
ensembl transcript: ENST00000491747
gene symbol: BRCA1
hgvsc: ENST00000491747.2:c.594-48A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1162
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5583
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 596
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1691
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18366
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11450
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 858
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 908
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 659
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10770
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1290
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 893
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2281
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 838
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 823
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 816
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1773
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1576
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5638
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3701
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8864
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 433
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7896
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3223
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1039
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50778
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5656
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8814
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.259001161440186e-5
allele num: 13776
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.07e-1

QD
type: SiteQuality
SIO_000300: 3.98e0

VQSLOD
type: SiteQuality
SIO_000300: -2.894e0

DP
type: SiteQuality
SIO_000300: 1.411166e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.096e0

MQ
type: SiteQuality
SIO_000300: 5.878e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-296+29A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.657+29A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.590+29A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.593+29A>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*376+29A>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 3689
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6524
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2550
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2545
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1391
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4891
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5703
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6825
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 98
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1821
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7002
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1200
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5100
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3278
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2919
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19513
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17281
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2424
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8938
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

QD
type: SiteQuality
SIO_000300: 6.93e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

DP
type: SiteQuality
SIO_000300: 3.232794e6

VQSLOD
type: SiteQuality
SIO_000300: -5.311e-1

FS
type: SiteQuality
SIO_000300: 3.281e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417554
ensembl transcript: ENST00000476777
gene symbol: BRCA1
hgvsc: ENST00000476777.1:c.590+16C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000326002
ensembl transcript: ENST00000354071
gene symbol: BRCA1
hgvsc: ENST00000354071.3:c.593+16C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-22707C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.590+16C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*529+16C>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 1820
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6824
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4891
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7002
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5703
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1200
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5075
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2550
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2546
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 579
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1473
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3724
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6523
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19670
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17280
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8943
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.992e1

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 4.782e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.109e0

MQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

DP
type: SiteQuality
SIO_000300: 3.233604e6

QD
type: SiteQuality
SIO_000300: 1.074e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-2375_293-2372delAAGA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+28036_-99+28039delAAGA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.657+9_657+12delAAGA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+27947_4+27950delAAGA
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-2375_268-2372delAAGA
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 3731
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5702
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6824
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7002
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5073
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2551
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2545
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4891
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6523
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1476
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17280
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 128
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4459
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8942
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.933861922258751e-4
allele num: 10342
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.185e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.14e-1

DP
type: SiteQuality
SIO_000300: 3.233541e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.593+9A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: true
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418960
ensembl transcript: ENST00000471181
gene symbol: BRCA1
hgvsc: ENST00000471181.2:c.593+9A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417554
ensembl transcript: ENST00000476777
gene symbol: BRCA1
hgvsc: ENST00000476777.1:c.590+9A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.452+9A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*529+9A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-2375A>G
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418548
ensembl transcript: ENST00000461221
gene symbol: BRCA1
hgvsc: ENST00000461221.1:c.*376+9A>G
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6522
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5072
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3753
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4891
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6822
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1458
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2547
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6105
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3663
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 789
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5703
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7001
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17278
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00318337437684e-5
allele num: 66596
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.04e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 3.233692e6

QD
type: SiteQuality
SIO_000300: 9.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.008e0

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419103
ensembl transcript: ENST00000494123
gene symbol: BRCA1
hgvsc: ENST00000494123.1:c.593+3G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.590+3G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.452+3G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+28030G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+27941G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-296+3G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-2381G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418212
ensembl transcript: ENST00000487825
gene symbol: BRCA1
hgvsc: ENST00000487825.1:c.296-2381G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-2381G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 5076
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6104
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3769
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 579
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7001
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5705
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 789
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1456
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6522
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2547
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1820
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3662
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2550
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4891
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6822
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4461
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8935
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2425
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19706
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1463
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17276
bin: 9.75e1
variant carriers: 4

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

African
type: Population
allele count: 4
allele frequency: 3.868471953578336e-4
allele num: 10340
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: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.097e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.47e-1

FS
type: SiteQuality
SIO_000300: 1.117e0

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.47e-1

DP
type: SiteQuality
SIO_000300: 3.23391e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
consequence: splice_region_variant
ensembl gene: ENSG00000012048
ensembl transcript: ENST00000467274
gene symbol: BRCA1
hgvsc: ENST00000467274.1:n.655C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.547+2529C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000417148
ensembl transcript: ENST00000468300
gene symbol: BRCA1
hgvsc: ENST00000468300.1:c.591C>T
hgvsp: ENST00000468300.1:c.591C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000350283
ensembl transcript: ENST00000357654
gene symbol: BRCA1
hgvsc: ENST00000357654.3:c.591C>T
hgvsp: ENST00000357654.3:c.591C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-2386C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000310938
ensembl transcript: ENST00000309486
gene symbol: BRCA1
hgvsc: ENST00000309486.4:c.-298C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-2386C>T
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: synonymous_variant
consequence: splice_region_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000246907
ensembl transcript: ENST00000346315
gene symbol: BRCA1
hgvsc: ENST00000346315.3:c.591C>T
hgvsp: ENST00000346315.3:c.591C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: benign&likely_benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-22725C>T
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 4877
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 587
bin: 9.25e1
variant carriers: 10

GenotypeDepth
all individuals: 3763
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2645
bin: 9.75e1
variant carriers: 122

GenotypeDepth
all individuals: 1450
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3653
bin: 6.75e1
variant carriers: 5

GenotypeDepth
all individuals: 5069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 6516
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1203
bin: 8.25e1
variant carriers: 7

GenotypeDepth
all individuals: 1805
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6090
bin: 5.75e1
variant carriers: 3

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2544
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 6808
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6986
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 797
bin: 8.75e1
variant carriers: 8

GenotypeDepth
all individuals: 5696
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19693
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2914
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8930
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17289
bin: 9.75e1
variant carriers: 177

GenotypeQuality
all individuals: 1459
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4458
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3274
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 4
allele frequency: 4.415011037527594e-3
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 111
allele frequency: 1.666916954497672e-3
allele num: 66590
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.870718018192375e-4
allele num: 10334
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.63460140537921e-4
allele num: 16508
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 45
allele frequency: 6.805807622504537e-3
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 6.909656244601831e-4
allele num: 11578
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

QD
type: SiteQuality
SIO_000300: 1.135e1

DP
type: SiteQuality
SIO_000300: 3.242716e6

FS
type: SiteQuality
SIO_000300: 5.38e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*515G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-2398G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+28013G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419988
ensembl transcript: ENST00000477152
gene symbol: BRCA1
hgvsc: ENST00000477152.1:c.501G>A
hgvsp: ENST00000477152.1:c.501G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-2398G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.579G>A
hgvsp: ENST00000470026.1:c.579G>A(p.%3D)
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 3779
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4883
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2532
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6101
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5092
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6528
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5717
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 791
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3656
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1802
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2545
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7001
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6839
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3284
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19742
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17181
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8948
bin: 6.75e1
variant carriers: 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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.512401693889897e-4
allele num: 6612
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.025e1

FS
type: SiteQuality
SIO_000300: 3.015e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.643e-1

MQ
type: SiteQuality
SIO_000300: 5.91e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

DP
type: SiteQuality
SIO_000300: 3.231108e6

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420412
ensembl transcript: ENST00000478531
gene symbol: BRCA1
hgvsc: ENST00000478531.1:c.569T>A
hgvsp: ENSP00000420412.1:p.Val190Asp
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418819
ensembl transcript: ENST00000493919
gene symbol: BRCA1
hgvsc: ENST00000493919.1:c.431T>A
hgvsp: ENSP00000418819.1:p.Val144Asp
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465818
ensembl transcript: ENST00000586385
gene symbol: BRCA1
hgvsc: ENST00000586385.1:c.4+27917T>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-2405T>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-2405T>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419481
ensembl transcript: ENST00000484087
gene symbol: BRCA1
hgvsc: ENST00000484087.1:c.293-2405T>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000465347
ensembl transcript: ENST00000591849
gene symbol: BRCA1
hgvsc: ENST00000591849.1:c.-99+28006T>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&not_provided
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.572T>A
hgvsp: ENSP00000419274.1:p.Val191Asp
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5083
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 791
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5717
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1802
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4883
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6528
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3779
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3657
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2545
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2532
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6101
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6839
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1201
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7000
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 581
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1467
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19671
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4465
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8950
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17180
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502223290469895e-5
allele num: 66568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.9e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.398e0

MQRankSum
type: SiteQuality
SIO_000300: -1.354e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.127e0

DP
type: SiteQuality
SIO_000300: 3.230265e6

QD
type: SiteQuality
SIO_000300: 1.096e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -6.756e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419274
ensembl transcript: ENST00000470026
gene symbol: BRCA1
hgvsc: ENST00000470026.1:c.571G>A
hgvsp: ENSP00000419274.1:p.Val191Ile
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000338007
ensembl transcript: ENST00000351666
gene symbol: BRCA1
hgvsc: ENST00000351666.3:c.547+2509G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420253
ensembl transcript: ENST00000492859
gene symbol: BRCA1
hgvsc: ENST00000492859.1:c.*507G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000419103
ensembl transcript: ENST00000494123
gene symbol: BRCA1
hgvsc: ENST00000494123.1:c.571G>A
hgvsp: ENSP00000419103.1:p.Val191Ile
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000420201
ensembl transcript: ENST00000473961
gene symbol: BRCA1
hgvsc: ENST00000473961.1:c.268-2406G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000418986
ensembl transcript: ENST00000497488
gene symbol: BRCA1
hgvsc: ENST00000497488.1:c.-218-2406G>A
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: missense_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000312236
ensembl transcript: ENST00000352993
gene symbol: BRCA1
hgvsc: ENST00000352993.3:c.571G>A
hgvsp: ENSP00000312236.5:p.Val191Ile
variant of: http://identifiers.org/hgnc/1100

Annotation
canonical: false
clinical significance: uncertain_significance&benign
consequence: intron_variant
ensembl gene: ENSG00000012048
ensembl protein: ENSP00000467329
ensembl transcript: ENST00000591534
gene symbol: BRCA1
hgvsc: ENST00000591534.1:c.-43-22745G>A
variant of: http://identifiers.org/hgnc/1100

GenotypeDepth
all individuals: 3768
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5085
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5715
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1199
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3655
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 582
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1339
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4878
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6833
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2553
bin: 9.75e1
variant carriers: 23

GenotypeDepth
all individuals: 7001
bin: 4.75e1
variant carriers: 3

GenotypeDepth
all individuals: 793
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1801
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6529
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2543
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2430
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4464
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17186
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2915
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3280
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 5
allele frequency: 4.852484472049689e-4
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 29
allele frequency: 3.358036127836962e-3
allele num: 8636
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004988280545706e-5
allele num: 66556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.74e0

QD
type: SiteQuality
SIO_000300: 1.178e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

DP
type: SiteQuality
SIO_000300: 3.231923e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1