17-41197823-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197823
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197823
    reference: chr 17
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
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.2156-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5531-4C>T
  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.2082-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4751-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.941-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  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.*5251-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4673-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.398-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.167-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1919-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4580-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5327-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.2042-4C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5468-4C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5531-4C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/17-41197827-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197828
    reference: chr 17
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: CA
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4673-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5531-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4751-9dupT
  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.1919-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2156-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2082-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5327-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_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.*5251-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4580-9dupT
  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.398-9dupT
  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.941-9dupT
  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.167-9dupT
  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.2042-9dupT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5468-9dupT
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36257
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD

17-41197827-CAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197827
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197825
    reference: chr 17
allele count: 10
allele frequency: 8.239811473113494e-5
allele num: 121362
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4673-10_4673-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5468-10_5468-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5327-10_5327-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_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.*5251-10_*5251-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2082-10_2082-9delCT
  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.2042-10_2042-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2156-10_2156-9delCT
  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.398-10_398-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4580-10_4580-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4751-10_4751-9delCT
  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.941-10_941-9delCT
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5531-10_5531-9delCT
  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.1919-10_1919-9delCT
  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.167-10_167-9delCT
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2072
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: CAG
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

17-41197829-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197829
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197829
    reference: chr 17
allele count: 171
allele frequency: 1.409239999340706e-3
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4673-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.941-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2156-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&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.*5251-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4580-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1919-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5327-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2082-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.398-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.2042-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5468-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5531-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.167-10C>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4751-10C>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 5.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 36164
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11767
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
num of homozygotes: 3
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-41197831-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197831
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197831
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2082-12C>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.2156-12C>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.941-12C>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.4580-12C>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.2042-12C>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.398-12C>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.4673-12C>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.*5251-12C>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.5327-12C>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.1919-12C>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.5531-12C>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.5468-12C>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.167-12C>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.4751-12C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36161
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11794
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6490
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

17-41197849-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197849
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197849
    reference: chr 17
allele count: 7
allele frequency: 5.769864820309924e-5
allele num: 121320
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.2042-30C>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.167-30C>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.4751-30C>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.5531-30C>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.2082-30C>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.4673-30C>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.2156-30C>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.398-30C>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.5327-30C>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.1919-30C>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.4580-30C>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.5468-30C>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.*5251-30C>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.941-30C>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35735
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11653
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

17-41197864-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197864
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197864
    reference: chr 17
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5327-45G>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.1919-45G>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.941-45G>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.2156-45G>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.5531-45G>C
  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.4673-45G>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.398-45G>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.4751-45G>C
  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.*5251-45G>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.5468-45G>C
  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.4580-45G>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.167-45G>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.2042-45G>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.2082-45G>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35444
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2097
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

17-41197866-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197866
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197866
    reference: chr 17
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
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.5327-47A>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.398-47A>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.2082-47A>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.4673-47A>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.*5251-47A>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.1919-47A>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.167-47A>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.5531-47A>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.4751-47A>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.2042-47A>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.2156-47A>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.5468-47A>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.941-47A>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.4580-47A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35454
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD

17-41197867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197867
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197867
    reference: chr 17
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4580-48C>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.1919-48C>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.941-48C>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.398-48C>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.5327-48C>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.*5251-48C>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.2156-48C>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.4673-48C>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.167-48C>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.5468-48C>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.2042-48C>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.4751-48C>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.2082-48C>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.5531-48C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11495
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

17-41197869-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197869
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197869
    reference: chr 17
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2082-50T>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.941-50T>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.4580-50T>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.*5251-50T>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.398-50T>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.5468-50T>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.1919-50T>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.5531-50T>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.2156-50T>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.4751-50T>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.4673-50T>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.2042-50T>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.167-50T>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.5327-50T>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35339
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-41197871-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41197871
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41197871
    reference: chr 17
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5531-52A>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.4751-52A>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.2156-52A>C
  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.*5251-52A>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.2082-52A>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.941-52A>C
  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.4673-52A>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.1919-52A>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.5327-52A>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.2042-52A>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.5468-52A>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.167-52A>C
  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.4580-52A>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.398-52A>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35114
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11683
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-41199616-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199616
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199616
    reference: chr 17
allele count: 3
allele frequency: 2.470966147763776e-5
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2081+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.5467+44A>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.4579+44A>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.166+44A>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.2155+44A>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.1918+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.*5250+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.5530+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.4672+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.940+44A>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.5326+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.397+44A>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.2041+44A>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.4750+44A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-41199638-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199638
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199638
    reference: chr 17
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.2041+22G>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.940+22G>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.5326+22G>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.5530+22G>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.5467+22G>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.166+22G>C
  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.4579+22G>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.1918+22G>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.2081+22G>C
  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.4672+22G>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.2155+22G>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.4750+22G>C
  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.*5250+22G>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.397+22G>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13400
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5839
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-41199652-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199652
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199652
    reference: chr 17
allele count: 2
allele frequency: 1.647392178181938e-5
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.940+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4750+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.397+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5326+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5530+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1918+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4672+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&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.*5250+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5467+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4579+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.2041+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2155+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2081+8G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.166+8G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 707
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5530+8G>A
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

17-41199671-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199671
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199671
    reference: chr 17
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5456A>G
  hgvsp: ENSP00000350283.3:p.Asn1819Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5315A>G
  hgvsp: ENSP00000418775.1:p.Asn1772Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4739A>G
  hgvsp: ENSP00000246907.4:p.Asn1580Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.929A>G
  hgvsp: ENSP00000467329.1:p.Asn310Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.386A>G
  hgvsp: ENSP00000465818.1:p.Asn129Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2144A>G
  hgvsp: ENSP00000420705.2:p.Asn715Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.2030A>G
  hgvsp: ENSP00000312236.5:p.Asn677Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4568A>G
  hgvsp: ENSP00000310938.4:p.Asn1523Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4661A>G
  hgvsp: ENSP00000326002.6:p.Asn1554Ser
  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.2070A>G
  hgvsp: ENST00000468300.1:c.2070A>G(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.*5239A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.155A>G
  hgvsp: ENSP00000465347.1:p.Asn52Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5519A>G
  hgvsp: ENSP00000418960.2:p.Asn1840Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1907A>G
  hgvsp: ENSP00000338007.3:p.Asn636Ser
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1574
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13403
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn1840Ser
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

17-41199682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199682
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199682
    reference: chr 17
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5304G>A
  hgvsp: ENSP00000418775.1:p.Trp1768Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4650G>A
  hgvsp: ENSP00000326002.6:p.Trp1550Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.144G>A
  hgvsp: ENSP00000465347.1:p.Trp48Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2133G>A
  hgvsp: ENSP00000420705.2:p.Trp711Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1896G>A
  hgvsp: ENSP00000338007.3:p.Trp632Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4557G>A
  hgvsp: ENSP00000310938.4:p.Trp1519Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2059G>A
  hgvsp: ENSP00000417148.1:p.Asp687Asn
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  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.*5228G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4728G>A
  hgvsp: ENSP00000246907.4:p.Trp1576Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.918G>A
  hgvsp: ENSP00000467329.1:p.Trp306Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5445G>A
  hgvsp: ENSP00000350283.3:p.Trp1815Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.375G>A
  hgvsp: ENSP00000465818.1:p.Trp125Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5508G>A
  hgvsp: ENSP00000418960.2:p.Trp1836Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&pathogenic
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.2019G>A
  hgvsp: ENSP00000312236.5:p.Trp673Ter
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Trp1836Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

17-41199688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199688
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199688
    reference: chr 17
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4644T>C
  hgvsp: ENST00000354071.3:c.4644T>C(p.%3D)
  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.2053T>C
  hgvsp: ENSP00000417148.1:p.Cys685Arg
  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.5298T>C
  hgvsp: ENST00000493795.1:c.5298T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.912T>C
  hgvsp: ENST00000591534.1:c.912T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.138T>C
  hgvsp: ENST00000591849.1:c.138T>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.5502T>C
  hgvsp: ENST00000471181.2:c.5502T>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.2127T>C
  hgvsp: ENST00000491747.2:c.2127T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1890T>C
  hgvsp: ENST00000351666.3:c.1890T>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.*5222T>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.4722T>C
  hgvsp: ENST00000346315.3:c.4722T>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.2013T>C
  hgvsp: ENST00000352993.3:c.2013T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.369T>C
  hgvsp: ENST00000586385.1:c.369T>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.5439T>C
  hgvsp: ENST00000357654.3:c.5439T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4551T>C
  hgvsp: ENST00000309486.4:c.4551T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys685Arg
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP

17-41199711-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199711
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199711
    reference: chr 17
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: C
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.2030C>G
  hgvsp: ENSP00000417148.1:p.Pro677Arg
  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.5416C>G
  hgvsp: ENSP00000350283.3:p.Pro1806Ala
  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.2104C>G
  hgvsp: ENSP00000420705.2:p.Pro702Ala
  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.4699C>G
  hgvsp: ENSP00000246907.4:p.Pro1567Ala
  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: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1867C>G
  hgvsp: ENSP00000338007.3:p.Pro623Ala
  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.5275C>G
  hgvsp: ENSP00000418775.1:p.Pro1759Ala
  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.4621C>G
  hgvsp: ENSP00000326002.6:p.Pro1541Ala
  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.1990C>G
  hgvsp: ENSP00000312236.5:p.Pro664Ala
  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: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4528C>G
  hgvsp: ENSP00000310938.4:p.Pro1510Ala
  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.*5199C>G
  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: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.346C>G
  hgvsp: ENSP00000465818.1:p.Pro116Ala
  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.5479C>G
  hgvsp: ENSP00000418960.2:p.Pro1827Ala
  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: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.115C>G
  hgvsp: ENSP00000465347.1:p.Pro39Ala
  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: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.889C>G
  hgvsp: ENSP00000467329.1:p.Pro297Ala
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13392
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1827Ala
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

17-41199715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199715
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199715
    reference: chr 17
allele count: 1
allele frequency: 8.239947264337508e-6
allele num: 121360
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.885C>T
  hgvsp: ENST00000591534.1:c.885C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4524C>T
  hgvsp: ENST00000309486.4:c.4524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.342C>T
  hgvsp: ENST00000586385.1:c.342C>T(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.2100C>T
  hgvsp: ENST00000491747.2:c.2100C>T(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.4695C>T
  hgvsp: ENST00000346315.3:c.4695C>T(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.*5195C>T
  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.1986C>T
  hgvsp: ENST00000352993.3:c.1986C>T(p.%3D)
  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.2026C>T
  hgvsp: ENSP00000417148.1:p.Pro676Ser
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.111C>T
  hgvsp: ENST00000591849.1:c.111C>T(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.4617C>T
  hgvsp: ENST00000354071.3:c.4617C>T(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.5412C>T
  hgvsp: ENST00000357654.3:c.5412C>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.5271C>T
  hgvsp: ENST00000493795.1:c.5271C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1863C>T
  hgvsp: ENST00000351666.3:c.1863C>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.5475C>T
  hgvsp: ENST00000471181.2:c.5475C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8451
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5834
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro676Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

17-41199716-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199716
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199716
    reference: chr 17
allele count: 7
allele frequency: 5.767963085036256e-5
allele num: 121360
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1985T>A
  hgvsp: ENSP00000312236.5:p.Val662Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5474T>A
  hgvsp: ENSP00000418960.2:p.Val1825Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4694T>A
  hgvsp: ENSP00000246907.4:p.Val1565Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5411T>A
  hgvsp: ENSP00000350283.3:p.Val1804Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4616T>A
  hgvsp: ENSP00000326002.6:p.Val1539Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1862T>A
  hgvsp: ENSP00000338007.3:p.Val621Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.110T>A
  hgvsp: ENSP00000465347.1:p.Val37Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: stop_gained
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2025T>A
  hgvsp: ENSP00000417148.1:p.Cys675Ter
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.884T>A
  hgvsp: ENSP00000467329.1:p.Val295Asp
  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.*5194T>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2099T>A
  hgvsp: ENSP00000420705.2:p.Val700Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5270T>A
  hgvsp: ENSP00000418775.1:p.Val1757Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4523T>A
  hgvsp: ENSP00000310938.4:p.Val1508Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.341T>A
  hgvsp: ENSP00000465818.1:p.Val114Asp
  variant of: http://identifiers.org/hgnc/1100
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3754
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys675Ter
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-41199729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199729
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199729
    reference: chr 17
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5470-9G>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.2095-9G>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.1858-9G>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.337-9G>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.5407-9G>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.4612-9G>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.5266-9G>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.4690-9G>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.2021-9G>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.1981-9G>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.*5190-9G>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.4519-9G>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.880-9G>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.106-9G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

17-41199730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199730
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199730
    reference: chr 17
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
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.1981-10G>A
  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.106-10G>A
  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.337-10G>A
  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.4690-10G>A
  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.2021-10G>A
  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.5266-10G>A
  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.5407-10G>A
  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.1858-10G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: 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.2095-10G>A
  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.880-10G>A
  variant of: http://identifiers.org/hgnc/1100
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.4612-10G>A
  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.*5190-10G>A
  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.5470-10G>A
  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.4519-10G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12981
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

17-41199733-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199733
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199733
    reference: chr 17
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5470-13C>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.337-13C>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.1981-13C>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.*5190-13C>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.4612-13C>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.2095-13C>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.5407-13C>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.5266-13C>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.106-13C>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.880-13C>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.2021-13C>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.4519-13C>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.1858-13C>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.4690-13C>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5811
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4852
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ

17-41199741-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199741
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199741
    reference: chr 17
allele count: 2
allele frequency: 1.649185302460584e-5
allele num: 121272
alternate allele: C
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.2021-21C>G
  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.4690-21C>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.*5190-21C>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.5407-21C>G
  variant of: http://identifiers.org/hgnc/1100
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.4612-21C>G
  variant of: http://identifiers.org/hgnc/1100
annotation: 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.2095-21C>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.1981-21C>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.5470-21C>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.4519-21C>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.1858-21C>G
  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.5266-21C>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.880-21C>G
  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.106-21C>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.337-21C>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12852
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-41199752-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199752
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199752
    reference: chr 17
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
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.4612-32C>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.*5190-32C>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.5407-32C>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.5266-32C>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.106-32C>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.5470-32C>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.2021-32C>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.1981-32C>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.1858-32C>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.2095-32C>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.337-32C>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.4690-32C>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.4519-32C>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.880-32C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4851
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5766
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-41199754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41199754
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41199754
    reference: chr 17
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
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.4690-34C>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.4612-34C>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.2095-34C>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.337-34C>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.1858-34C>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.1981-34C>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.5470-34C>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.2021-34C>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.880-34C>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.*5190-34C>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.5266-34C>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.5407-34C>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.4519-34C>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.106-34C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5758
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3713
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

17-41201092-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201092
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201092
    reference: chr 17
allele count: 1
allele frequency: 8.533588203167667e-6
allele num: 117184
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1372T>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.879+46T>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.4689+46T>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.1980+46T>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.1857+46T>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.2094+46T>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.5265+46T>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.*5189+46T>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.336+46T>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.105+46T>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.4611+46T>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.5469+46T>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.4518+46T>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.5406+46T>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-41201105-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201105
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201105
    reference: chr 17
allele count: 91
allele frequency: 7.73375486546666e-4
allele num: 117666
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1385A>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: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.105+33A>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: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4611+33A>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: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1857+33A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*5189+33A>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: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5265+33A>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5469+33A>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.879+33A>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: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.336+33A>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: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5406+33A>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: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2094+33A>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: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4518+33A>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: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4689+33A>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.1980+33A>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 3.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5515
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

17-41201110-CCTCT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201110
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201106
    reference: chr 17
allele count: 4
allele frequency: 3.385412258577788e-5
allele num: 118154
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2094+24_2094+27delAGAG
  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.5469+24_5469+27delAGAG
  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.*5189+24_*5189+27delAGAG
  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.4518+24_4518+27delAGAG
  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.4689+24_4689+27delAGAG
  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.4611+24_4611+27delAGAG
  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.5406+24_5406+27delAGAG
  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.879+24_879+27delAGAG
  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.2021-1394_2021-1391delAGAG
  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.336+24_336+27delAGAG
  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.1857+24_1857+27delAGAG
  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.105+24_105+27delAGAG
  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.5265+24_5265+27delAGAG
  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.1980+24_1980+27delAGAG
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4292
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: CCTCT
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

17-41201117-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201117
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201117
    reference: chr 17
allele count: 1
allele frequency: 8.39602364320258e-6
allele num: 119104
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.5469+21C>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.*5189+21C>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.2094+21C>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.4689+21C>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.879+21C>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.336+21C>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.105+21C>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.5265+21C>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.4518+21C>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.1857+21C>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.4611+21C>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.1980+21C>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.5406+21C>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.2021-1397C>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4506
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

17-41201122-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201122
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201122
    reference: chr 17
allele count: 2
allele frequency: 1.671541997492687e-5
allele num: 119650
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.4689+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.4518+16C>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.5265+16C>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.336+16C>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.1980+16C>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.879+16C>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.2094+16C>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.*5189+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.2021-1402C>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.4611+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.5469+16C>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.1857+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.105+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.5406+16C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-41201130-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201130
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201130
    reference: chr 17
allele count: 186
allele frequency: 1.545672118069406e-3
allele num: 120336
alternate allele: G
annotation: Annotation
  canonical: true
  clinical 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.5469+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.4611+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.336+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.*5189+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1980+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.4689+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.879+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.2094+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.5265+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.4518+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: 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.2021-1410T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.105+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1857+8T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.5406+8T>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: c.5469+8T>C
num of homozygotes: 2
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-41201142-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201142
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201142
    reference: chr 17
allele count: 5
allele frequency: 4.137086498204505e-5
allele num: 120858
alternate allele: T
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.2021-1422G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.101G>A
  hgvsp: ENSP00000465347.1:p.Gly34Asp
  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.5261G>A
  hgvsp: ENSP00000418775.1:p.Gly1754Asp
  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.4607G>A
  hgvsp: ENSP00000326002.6:p.Gly1536Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.875G>A
  hgvsp: ENSP00000467329.1:p.Gly292Asp
  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.1976G>A
  hgvsp: ENSP00000312236.5:p.Gly659Asp
  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.2090G>A
  hgvsp: ENSP00000420705.2:p.Gly697Asp
  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.5465G>A
  hgvsp: ENSP00000418960.2:p.Gly1822Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4514G>A
  hgvsp: ENSP00000310938.4:p.Gly1505Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1853G>A
  hgvsp: ENSP00000338007.3:p.Gly618Asp
  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.5402G>A
  hgvsp: ENSP00000350283.3:p.Gly1801Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.332G>A
  hgvsp: ENSP00000465818.1:p.Gly111Asp
  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.4685G>A
  hgvsp: ENSP00000246907.4:p.Gly1562Asp
  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: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*5185G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29559
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13797
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1822Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

17-41201150-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201150
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201150
    reference: chr 17
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1430C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1845C>T
  hgvsp: ENST00000351666.3:c.1845C>T(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.4599C>T
  hgvsp: ENST00000354071.3:c.4599C>T(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.*5177C>T
  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.5253C>T
  hgvsp: ENST00000493795.1:c.5253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.867C>T
  hgvsp: ENST00000591534.1:c.867C>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.5457C>T
  hgvsp: ENST00000471181.2:c.5457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4506C>T
  hgvsp: ENST00000309486.4:c.4506C>T(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.5394C>T
  hgvsp: ENST00000357654.3:c.5394C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.93C>T
  hgvsp: ENST00000591849.1:c.93C>T(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.2082C>T
  hgvsp: ENST00000491747.2:c.2082C>T(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.1968C>T
  hgvsp: ENST00000352993.3:c.1968C>T(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.4677C>T
  hgvsp: ENST00000346315.3:c.4677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.324C>T
  hgvsp: ENST00000586385.1:c.324C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13992
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Phe1819Phe
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

17-41201152-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201152
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201151
    reference: chr 17
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5454delA
  hgvsp: ENSP00000418960.2:p.Phe1819SerfsTer36
  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.5250delA
  hgvsp: ENSP00000418775.1:p.Phe1751SerfsTer36
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2079delA
  hgvsp: ENSP00000420705.2:p.Phe694SerfsTer36
  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.4596delA
  hgvsp: ENSP00000326002.6:p.Phe1533SerfsTer36
  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.2021-1433delA
  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.5391delA
  hgvsp: ENSP00000350283.3:p.Phe1798SerfsTer36
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4503delA
  hgvsp: ENSP00000310938.4:p.Phe1502SerfsTer36
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.864delA
  hgvsp: ENSP00000467329.1:p.Phe289SerfsTer36
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.321delA
  hgvsp: ENSP00000465818.1:p.Phe108SerfsTer36
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1965delA
  hgvsp: ENSP00000312236.5:p.Phe656SerfsTer36
  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.4674delA
  hgvsp: ENSP00000246907.4:p.Phe1559SerfsTer36
  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.*5174delA
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1842delA
  hgvsp: ENSP00000338007.3:p.Phe615SerfsTer36
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.90delA
  hgvsp: ENSP00000465347.1:p.Phe31SerfsTer36
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe1819SerfsTer36
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: AT
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

17-41201156-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201156
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201156
    reference: chr 17
allele count: 1
allele frequency: 8.254094030639197e-6
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1839A>G
  hgvsp: ENST00000351666.3:c.1839A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.861A>G
  hgvsp: ENST00000591534.1:c.861A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4500A>G
  hgvsp: ENST00000309486.4:c.4500A>G(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.5247A>G
  hgvsp: ENST00000493795.1:c.5247A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.318A>G
  hgvsp: ENST00000586385.1:c.318A>G(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.5451A>G
  hgvsp: ENST00000471181.2:c.5451A>G(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.4593A>G
  hgvsp: ENST00000354071.3:c.4593A>G(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.1962A>G
  hgvsp: ENST00000352993.3:c.1962A>G(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.5388A>G
  hgvsp: ENST00000357654.3:c.5388A>G(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.*5171A>G
  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.2076A>G
  hgvsp: ENST00000491747.2:c.2076A>G(p.%3D)
  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.2021-1436A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.87A>G
  hgvsp: ENST00000591849.1:c.87A>G(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.4671A>G
  hgvsp: ENST00000346315.3:c.4671A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29587
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14074
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser1817Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

17-41201162-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201162
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201162
    reference: chr 17
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.855G>C
  hgvsp: ENSP00000467329.1:p.Glu285Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5241G>C
  hgvsp: ENSP00000418775.1:p.Glu1747Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical 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.*5165G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4587G>C
  hgvsp: ENSP00000326002.6:p.Glu1529Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5445G>C
  hgvsp: ENSP00000418960.2:p.Glu1815Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4494G>C
  hgvsp: ENSP00000310938.4:p.Glu1498Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1956G>C
  hgvsp: ENSP00000312236.5:p.Glu652Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1442G>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.81G>C
  hgvsp: ENSP00000465347.1:p.Glu27Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.312G>C
  hgvsp: ENSP00000465818.1:p.Glu104Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1833G>C
  hgvsp: ENSP00000338007.3:p.Glu611Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5382G>C
  hgvsp: ENSP00000350283.3:p.Glu1794Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4665G>C
  hgvsp: ENSP00000246907.4:p.Glu1555Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2070G>C
  hgvsp: ENSP00000420705.2:p.Glu690Asp
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1815Asp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

17-41201164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201164
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201164
    reference: chr 17
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
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.*5163G>A
  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.5443G>A
  hgvsp: ENSP00000418960.2:p.Glu1815Lys
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4492G>A
  hgvsp: ENSP00000310938.4:p.Glu1498Lys
  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.4663G>A
  hgvsp: ENSP00000246907.4:p.Glu1555Lys
  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.4585G>A
  hgvsp: ENSP00000326002.6:p.Glu1529Lys
  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.1954G>A
  hgvsp: ENSP00000312236.5:p.Glu652Lys
  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.2021-1444G>A
  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.5239G>A
  hgvsp: ENSP00000418775.1:p.Glu1747Lys
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.853G>A
  hgvsp: ENSP00000467329.1:p.Glu285Lys
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1831G>A
  hgvsp: ENSP00000338007.3:p.Glu611Lys
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.310G>A
  hgvsp: ENSP00000465818.1:p.Glu104Lys
  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.5380G>A
  hgvsp: ENSP00000350283.3:p.Glu1794Lys
  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.2068G>A
  hgvsp: ENSP00000420705.2:p.Glu690Lys
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.79G>A
  hgvsp: ENSP00000465347.1:p.Glu27Lys
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1815Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP

17-41201177-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201177
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201176
    reference: chr 17
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1817delC
  hgvsp: ENSP00000338007.3:p.Ala606ValfsTer4
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2054delC
  hgvsp: ENSP00000420705.2:p.Ala685ValfsTer4
  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.2021-1458delC
  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.4571delC
  hgvsp: ENSP00000326002.6:p.Ala1524ValfsTer4
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4478delC
  hgvsp: ENSP00000310938.4:p.Ala1493ValfsTer4
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.839delC
  hgvsp: ENSP00000467329.1:p.Ala280ValfsTer4
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1940delC
  hgvsp: ENSP00000312236.5:p.Ala647ValfsTer4
  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.5429delC
  hgvsp: ENSP00000418960.2:p.Ala1810ValfsTer4
  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.*5149delC
  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.4649delC
  hgvsp: ENSP00000246907.4:p.Ala1550ValfsTer4
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.65delC
  hgvsp: ENSP00000465347.1:p.Ala22ValfsTer4
  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.5225delC
  hgvsp: ENSP00000418775.1:p.Ala1742ValfsTer4
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.296delC
  hgvsp: ENSP00000465818.1:p.Ala99ValfsTer4
  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.5366delC
  hgvsp: ENSP00000350283.3:p.Ala1789ValfsTer4
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1980
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1810ValfsTer4
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
reference allele: AG
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

17-41201179-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201179
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201179
    reference: chr 17
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.64G>A
  hgvsp: ENSP00000465347.1:p.Ala22Thr
  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: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.295G>A
  hgvsp: ENSP00000465818.1:p.Ala99Thr
  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.1939G>A
  hgvsp: ENSP00000312236.5:p.Ala647Thr
  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: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1459G>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: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5224G>A
  hgvsp: ENSP00000418775.1:p.Ala1742Thr
  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: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1816G>A
  hgvsp: ENSP00000338007.3:p.Ala606Thr
  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: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.838G>A
  hgvsp: ENSP00000467329.1:p.Ala280Thr
  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.5365G>A
  hgvsp: ENSP00000350283.3:p.Ala1789Thr
  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.5428G>A
  hgvsp: ENSP00000418960.2:p.Ala1810Thr
  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: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4477G>A
  hgvsp: ENSP00000310938.4:p.Ala1493Thr
  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.4570G>A
  hgvsp: ENSP00000326002.6:p.Ala1524Thr
  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.2053G>A
  hgvsp: ENSP00000420705.2:p.Ala685Thr
  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.*5148G>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.4648G>A
  hgvsp: ENSP00000246907.4:p.Ala1550Thr
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14205
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1066
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala1810Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/17-41201181-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201181
    reference: chr 17
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5222G>T
  hgvsp: ENSP00000418775.1:p.Gly1741Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4475G>T
  hgvsp: ENSP00000310938.4:p.Gly1492Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5363G>T
  hgvsp: ENSP00000350283.3:p.Gly1788Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4568G>T
  hgvsp: ENSP00000326002.6:p.Gly1523Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.62G>T
  hgvsp: ENSP00000465347.1:p.Gly21Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  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.*5146G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1937G>T
  hgvsp: ENSP00000312236.5:p.Gly646Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.836G>T
  hgvsp: ENSP00000467329.1:p.Gly279Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2051G>T
  hgvsp: ENSP00000420705.2:p.Gly684Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5426G>T
  hgvsp: ENSP00000418960.2:p.Gly1809Val
  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: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1461G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1814G>T
  hgvsp: ENSP00000338007.3:p.Gly605Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.293G>T
  hgvsp: ENSP00000465818.1:p.Gly98Val
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4646G>T
  hgvsp: ENSP00000246907.4:p.Gly1549Val
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1979
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1809Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff

17-41201181-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201181
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201181
    reference: chr 17
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5222G>A
  hgvsp: ENSP00000418775.1:p.Gly1741Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  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.*5146G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.62G>A
  hgvsp: ENSP00000465347.1:p.Gly21Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1814G>A
  hgvsp: ENSP00000338007.3:p.Gly605Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4475G>A
  hgvsp: ENSP00000310938.4:p.Gly1492Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.836G>A
  hgvsp: ENSP00000467329.1:p.Gly279Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4646G>A
  hgvsp: ENSP00000246907.4:p.Gly1549Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4568G>A
  hgvsp: ENSP00000326002.6:p.Gly1523Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5363G>A
  hgvsp: ENSP00000350283.3:p.Gly1788Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2051G>A
  hgvsp: ENSP00000420705.2:p.Gly684Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1937G>A
  hgvsp: ENSP00000312236.5:p.Gly646Asp
  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: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1461G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5426G>A
  hgvsp: ENSP00000418960.2:p.Gly1809Asp
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&pathogenic
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.293G>A
  hgvsp: ENSP00000465818.1:p.Gly98Asp
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly1809Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

17-41201187-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201187
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201187
    reference: chr 17
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: G
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.5216T>C
  hgvsp: ENSP00000418775.1:p.Leu1739Pro
  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.4562T>C
  hgvsp: ENSP00000326002.6:p.Leu1521Pro
  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.5420T>C
  hgvsp: ENSP00000418960.2:p.Leu1807Pro
  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.2045T>C
  hgvsp: ENSP00000420705.2:p.Leu682Pro
  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.4640T>C
  hgvsp: ENSP00000246907.4:p.Leu1547Pro
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1808T>C
  hgvsp: ENSP00000338007.3:p.Leu603Pro
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.287T>C
  hgvsp: ENSP00000465818.1:p.Leu96Pro
  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.1931T>C
  hgvsp: ENSP00000312236.5:p.Leu644Pro
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.830T>C
  hgvsp: ENSP00000467329.1:p.Leu277Pro
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4469T>C
  hgvsp: ENSP00000310938.4:p.Leu1490Pro
  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.2021-1467T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.56T>C
  hgvsp: ENSP00000465347.1:p.Leu19Pro
  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: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*5140T>C
  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.5357T>C
  hgvsp: ENSP00000350283.3:p.Leu1786Pro
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1807Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

17-41201192-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201192
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201192
    reference: chr 17
allele count: 7
allele frequency: 5.775768177167563e-5
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.282A>G
  hgvsp: ENST00000586385.1:c.282A>G(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.5211A>G
  hgvsp: ENST00000493795.1:c.5211A>G(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.4635A>G
  hgvsp: ENST00000346315.3:c.4635A>G(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.*5135A>G
  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.4557A>G
  hgvsp: ENST00000354071.3:c.4557A>G(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.1926A>G
  hgvsp: ENST00000352993.3:c.1926A>G(p.%3D)
  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.2021-1472A>G
  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.5415A>G
  hgvsp: ENST00000471181.2:c.5415A>G(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.2040A>G
  hgvsp: ENST00000491747.2:c.2040A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4464A>G
  hgvsp: ENST00000309486.4:c.4464A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1803A>G
  hgvsp: ENST00000351666.3:c.1803A>G(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.5352A>G
  hgvsp: ENST00000357654.3:c.5352A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.51A>G
  hgvsp: ENST00000591849.1:c.51A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.825A>G
  hgvsp: ENST00000591534.1:c.825A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14232
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1805Val
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

17-41201196-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201196
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201196
    reference: chr 17
allele count: 21
allele frequency: 1.733045042665919e-4
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.278T>C
  hgvsp: ENSP00000465818.1:p.Met93Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5348T>C
  hgvsp: ENSP00000350283.3:p.Met1783Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.47T>C
  hgvsp: ENSP00000465347.1:p.Met16Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2036T>C
  hgvsp: ENSP00000420705.2:p.Met679Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4460T>C
  hgvsp: ENSP00000310938.4:p.Met1487Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5207T>C
  hgvsp: ENSP00000418775.1:p.Met1736Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4553T>C
  hgvsp: ENSP00000326002.6:p.Met1518Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1922T>C
  hgvsp: ENSP00000312236.5:p.Met641Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4631T>C
  hgvsp: ENSP00000246907.4:p.Met1544Thr
  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.*5131T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1799T>C
  hgvsp: ENSP00000338007.3:p.Met600Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.821T>C
  hgvsp: ENSP00000467329.1:p.Met274Thr
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&benign
  consequence: missense_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5411T>C
  hgvsp: ENSP00000418960.2:p.Met1804Thr
  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: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1476T>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14283
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met1804Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

17-41201197-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201197
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201197
    reference: chr 17
allele count: 3
allele frequency: 2.47614645580904e-5
allele num: 121156
alternate allele: G
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.5410A>C
  hgvsp: ENSP00000418960.2:p.Met1804Leu
  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.5347A>C
  hgvsp: ENSP00000350283.3:p.Met1783Leu
  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.5206A>C
  hgvsp: ENSP00000418775.1:p.Met1736Leu
  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.4630A>C
  hgvsp: ENSP00000246907.4:p.Met1544Leu
  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: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.277A>C
  hgvsp: ENSP00000465818.1:p.Met93Leu
  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: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1798A>C
  hgvsp: ENSP00000338007.3:p.Met600Leu
  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.1921A>C
  hgvsp: ENSP00000312236.5:p.Met641Leu
  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: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.46A>C
  hgvsp: ENSP00000465347.1:p.Met16Leu
  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.*5130A>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: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.820A>C
  hgvsp: ENSP00000467329.1:p.Met274Leu
  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.2035A>C
  hgvsp: ENSP00000420705.2:p.Met679Leu
  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: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4459A>C
  hgvsp: ENSP00000310938.4:p.Met1487Leu
  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.4552A>C
  hgvsp: ENSP00000326002.6:p.Met1518Leu
  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: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1477A>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Met1804Leu
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-41201204-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201204
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201204
    reference: chr 17
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1484G>A
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4452G>A
  hgvsp: ENST00000309486.4:c.4452G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.39G>A
  hgvsp: ENST00000591849.1:c.39G>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.4545G>A
  hgvsp: ENST00000354071.3:c.4545G>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: ENSP00000418548
  ensembl transcript: ENST00000461221
  gene symbol: BRCA1
  hgvsc: ENST00000461221.1:c.*5123G>A
  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.2028G>A
  hgvsp: ENST00000491747.2:c.2028G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.813G>A
  hgvsp: ENST00000591534.1:c.813G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.270G>A
  hgvsp: ENST00000586385.1:c.270G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1791G>A
  hgvsp: ENST00000351666.3:c.1791G>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.5199G>A
  hgvsp: ENST00000493795.1:c.5199G>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.5403G>A
  hgvsp: ENST00000471181.2:c.5403G>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.1914G>A
  hgvsp: ENST00000352993.3:c.1914G>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.5340G>A
  hgvsp: ENST00000357654.3:c.5340G>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.4623G>A
  hgvsp: ENST00000346315.3:c.4623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29112
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1801Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

17-41201208-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201208
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201207
    reference: chr 17
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2023delC
  hgvsp: ENSP00000420705.2:p.Gln675AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1909delC
  hgvsp: ENSP00000312236.5:p.Gln637AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.265delC
  hgvsp: ENSP00000465818.1:p.Gln89AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1786delC
  hgvsp: ENSP00000338007.3:p.Gln596AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  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.*5118delC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.808delC
  hgvsp: ENSP00000467329.1:p.Gln270AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4618delC
  hgvsp: ENSP00000246907.4:p.Gln1540AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1489delC
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4447delC
  hgvsp: ENSP00000310938.4:p.Gln1483AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5194delC
  hgvsp: ENSP00000418775.1:p.Gln1732AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.34delC
  hgvsp: ENSP00000465347.1:p.Gln12AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4540delC
  hgvsp: ENSP00000326002.6:p.Gln1514AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5335delC
  hgvsp: ENSP00000350283.3:p.Gln1779AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: pathogenic&not_provided
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5398delC
  hgvsp: ENSP00000418960.2:p.Gln1800AsnfsTer14
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln1800AsnfsTer14
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: TG
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

17-41201210-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201210
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201210
    reference: chr 17
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5193T>C
  hgvsp: ENST00000493795.1:c.5193T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4539T>C
  hgvsp: ENST00000354071.3:c.4539T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  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.*5117T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2022T>C
  hgvsp: ENST00000491747.2:c.2022T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1908T>C
  hgvsp: ENST00000352993.3:c.1908T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5334T>C
  hgvsp: ENST00000357654.3:c.5334T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1785T>C
  hgvsp: ENST00000351666.3:c.1785T>C(p.%3D)
  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.2021-1490T>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4617T>C
  hgvsp: ENST00000346315.3:c.4617T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4446T>C
  hgvsp: ENST00000309486.4:c.4446T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.33T>C
  hgvsp: ENST00000591849.1:c.33T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.807T>C
  hgvsp: ENST00000591534.1:c.807T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.264T>C
  hgvsp: ENST00000586385.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5397T>C
  hgvsp: ENST00000471181.2:c.5397T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5397T>C
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

17-41201211-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201211
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201211
    reference: chr 17
allele count: 1
allele frequency: 8.264872638312644e-6
allele num: 120994
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5396A>G
  hgvsp: ENSP00000418960.2:p.Asp1799Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1907A>G
  hgvsp: ENSP00000312236.5:p.Asp636Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4616A>G
  hgvsp: ENSP00000246907.4:p.Asp1539Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&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.*5116A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2021A>G
  hgvsp: ENSP00000420705.2:p.Asp674Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1784A>G
  hgvsp: ENSP00000338007.3:p.Asp595Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.263A>G
  hgvsp: ENSP00000465818.1:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5192A>G
  hgvsp: ENSP00000418775.1:p.Asp1731Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4538A>G
  hgvsp: ENSP00000326002.6:p.Asp1513Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5333A>G
  hgvsp: ENSP00000350283.3:p.Asp1778Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4445A>G
  hgvsp: ENSP00000310938.4:p.Asp1482Gly
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1491A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.32A>G
  hgvsp: ENSP00000465347.1:p.Tyr11Cys
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&not_provided&benign&likely_benign
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.806A>G
  hgvsp: ENSP00000467329.1:p.Asp269Gly
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1799Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD

17-41201213-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201213
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201213
    reference: chr 17
allele count: 1
allele frequency: 8.267332462507647e-6
allele num: 120958
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4616-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000420705
  ensembl transcript: ENST00000491747
  gene symbol: BRCA1
  hgvsc: ENST00000491747.2:c.2021-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1907-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.32-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1784-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.806-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5396-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5333-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5192-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4538-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2021-1493A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.263-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_pathogenic
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4445-2A>C
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  clinical significance: not_provided&likely_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.*5116-2A>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5396-2A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

17-41201218-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201218
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201218
    reference: chr 17
allele count: 2
allele frequency: 1.655053706492776e-5
allele num: 120842
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5192-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4616-7A>G
  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.2021-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4445-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1907-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.263-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  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.*5116-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5396-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5333-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.32-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4538-7A>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.2021-1498A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.806-7A>G
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1784-7A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5396-7A>G
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum

17-41201219-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201219
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201219
    reference: chr 17
allele count: 2
allele frequency: 1.655464688938185e-5
allele num: 120812
alternate allele: A
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.4616-8C>T
  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: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.806-8C>T
  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: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.263-8C>T
  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.2021-8C>T
  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.5396-8C>T
  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: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1784-8C>T
  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.5333-8C>T
  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.4538-8C>T
  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.2021-1499C>T
  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.*5116-8C>T
  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: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4445-8C>T
  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.5192-8C>T
  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: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.32-8C>T
  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.1907-8C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5396-8C>T
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-41201236-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201236
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201236
    reference: chr 17
allele count: 1
allele frequency: 8.306475728477921e-6
allele num: 120388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1784-25T>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.1907-25T>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.4616-25T>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.4445-25T>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.4538-25T>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.2021-25T>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.*5116-25T>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.5192-25T>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.263-25T>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.5396-25T>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.5333-25T>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.2021-1516T>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.806-25T>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.32-25T>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-41201250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201250
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201250
    reference: chr 17
allele count: 2
allele frequency: 1.66688891852247e-5
allele num: 119984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5333-39G>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.4445-39G>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.263-39G>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.5192-39G>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.4538-39G>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.2021-1530G>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.32-39G>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.1784-39G>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.2021-39G>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.4616-39G>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.5396-39G>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.806-39G>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.*5116-39G>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.1907-39G>A
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum

17-41201251-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201251
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201251
    reference: chr 17
allele count: 1
allele frequency: 8.336112037345782e-6
allele num: 119960
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.806-40A>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.5333-40A>C
  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.*5116-40A>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.263-40A>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.5192-40A>C
  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.4538-40A>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.2021-1531A>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.2021-40A>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.5396-40A>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.4616-40A>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.1907-40A>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.1784-40A>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.32-40A>C
  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.4445-40A>C
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9538
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/17-41201261-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41201261
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41201262
    reference: chr 17
allele count: 4
allele frequency: 3.357563751741736e-5
allele num: 119134
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1784-51dupG
  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.32-51dupG
  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.*5116-51dupG
  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.4538-51dupG
  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.4445-51dupG
  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.263-51dupG
  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.806-51dupG
  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.5333-51dupG
  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.2021-1542dupG
  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.1907-51dupG
  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.5192-51dupG
  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.2021-51dupG
  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.4616-51dupG
  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.5396-51dupG
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9862
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18915
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4847
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum

17-41203048-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203048
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203048
    reference: chr 17
allele count: 2
allele frequency: 1.66024704476026e-5
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000417148
  ensembl transcript: ENST00000468300
  gene symbol: BRCA1
  hgvsc: ENST00000468300.1:c.2020+32C>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.4537+32C>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.1906+32C>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.-98-841C>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.5332+32C>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.2020+32C>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.262+32C>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.805+32C>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.1783+32C>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.*5115+32C>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.4615+32C>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.5191+32C>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.4444+32C>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.5395+32C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13142
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-41203052-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203052
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203052
    reference: chr 17
allele count: 1
allele frequency: 8.298066550493736e-6
allele num: 120510
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1783+28C>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.5191+28C>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.2020+28C>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.262+28C>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.*5115+28C>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.4537+28C>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.805+28C>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.5395+28C>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.5332+28C>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.-98-845C>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.4444+28C>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.4615+28C>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.1906+28C>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.2020+28C>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13272
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

17-41203058-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203058
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203058
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 120558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4537+22A>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.805+22A>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.4444+22A>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.*5115+22A>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.1783+22A>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.5191+22A>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.5332+22A>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.5395+22A>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.2020+22A>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.262+22A>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.2020+22A>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.1906+22A>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.4615+22A>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.-98-851A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

17-41203061-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203061
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203061
    reference: chr 17
allele count: 1
allele frequency: 8.293524416135881e-6
allele num: 120576
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5191+19C>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.4615+19C>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.1783+19C>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.4537+19C>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.2020+19C>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.*5115+19C>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.805+19C>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.5395+19C>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.2020+19C>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.262+19C>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.1906+19C>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.-98-854C>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.5332+19C>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.4444+19C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7717
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12682
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-41203067-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203067
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203067
    reference: chr 17
allele count: 7
allele frequency: 5.804023017096994e-5
allele num: 120606
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.805+13G>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.262+13G>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.4537+13G>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.2020+13G>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.1783+13G>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.5395+13G>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.2020+13G>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.4615+13G>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.5191+13G>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.*5115+13G>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.-98-860G>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.4444+13G>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.5332+13G>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.1906+13G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12714
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

17-41203072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203072
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203072
    reference: chr 17
allele count: 2
allele frequency: 1.657742486282181e-5
allele num: 120646
alternate allele: A
annotation: Annotation
  canonical: false
  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.*5115+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.805+8C>T
  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.2020+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1906+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4615+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4444+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5191+8C>T
  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.2020+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5332+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1783+8C>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.-98-865C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.262+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5395+8C>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4537+8C>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8851
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5395+8C>T
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/17-41203073-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203073
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203073
    reference: chr 17
allele count: 3
allele frequency: 2.486407638244265e-5
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.262+7G>T
  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.2020+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000312236
  ensembl transcript: ENST00000352993
  gene symbol: BRCA1
  hgvsc: ENST00000352993.3:c.1906+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000310938
  ensembl transcript: ENST00000309486
  gene symbol: BRCA1
  hgvsc: ENST00000309486.4:c.4444+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4537+7G>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.-98-866G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000350283
  ensembl transcript: ENST00000357654
  gene symbol: BRCA1
  hgvsc: ENST00000357654.3:c.5332+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1783+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.805+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4615+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418775
  ensembl transcript: ENST00000493795
  gene symbol: BRCA1
  hgvsc: ENST00000493795.1:c.5191+7G>T
  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.2020+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000012048
  ensembl protein: ENSP00000418960
  ensembl transcript: ENST00000471181
  gene symbol: BRCA1
  hgvsc: ENST00000471181.2:c.5395+7G>T
  variant of: http://identifiers.org/hgnc/1100
annotation: Annotation
  canonical: false
  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.*5115+7G>T
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7725
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5395+7G>T
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD

17-41203076-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 41203076
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 41203076
    reference: chr 17
allele count: 3
allele frequency: 2.486036760196894e-5
allele num: 120674
alternate allele: C
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.2020+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.5191+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.2020+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.4444+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: ENSP00000467329
  ensembl transcript: ENST00000591534
  gene symbol: BRCA1
  hgvsc: ENST00000591534.1:c.805+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: ENSP00000465818
  ensembl transcript: ENST00000586385
  gene symbol: BRCA1
  hgvsc: ENST00000586385.1:c.262+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.*5115+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: ENSP00000338007
  ensembl transcript: ENST00000351666
  gene symbol: BRCA1
  hgvsc: ENST00000351666.3:c.1783+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.5395+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.5332+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: ENSP00000246907
  ensembl transcript: ENST00000346315
  gene symbol: BRCA1
  hgvsc: ENST00000346315.3:c.4615+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: ENSP00000326002
  ensembl transcript: ENST00000354071
  gene symbol: BRCA1
  hgvsc: ENST00000354071.3:c.4537+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.1906+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: ENSP00000465347
  ensembl transcript: ENST00000591849
  gene symbol: BRCA1
  hgvsc: ENST00000591849.1:c.-98-869A>G
  variant of: http://identifiers.org/hgnc/1100
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7726
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8884
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12735
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.5395+4A>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS

GenotypeDepth
all individuals: 736
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 394
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 212
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36295
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6486
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 516
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38926
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1099
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 956
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3690
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7352
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: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

MQRankSum
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 1.619e0

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

DP
type: SiteQuality
SIO_000300: 1.603834e6

QD
type: SiteQuality
SIO_000300: 1.224e1

GenotypeDepth
all individuals: 517
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1202
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 60
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11801
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3700
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 7338
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38873
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

QD
type: SiteQuality
SIO_000300: 1.481e1

DP
type: SiteQuality
SIO_000300: 1.6038e6

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 2.544e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.18e0

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

GenotypeDepth
all individuals: 36257
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 263
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 10

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 10
allele frequency: 8.640055296353896e-4
allele num: 11574
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.6038e6

MQRankSum
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SIO_000300: 1.03e0

BaseQRankSum
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QD
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SIO_000300: 1.481e1

FS
type: SiteQuality
SIO_000300: 2.544e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 3.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 956
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.495352881213648e-5
allele num: 66708
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

African
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allele count: 159
allele frequency: 1.528258362168397e-2
allele num: 10404
num of homozygotes: 3

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

Latino
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allele count: 5
allele frequency: 4.326756663205261e-4
allele num: 11556
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ReadPosRankSum
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SIO_000300: 5.22e-1

MQRankSum
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SIO_000300: 4.14e-1

ClippingRankSum
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SIO_000300: -1.76e-1

DP
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SIO_000300: 1.608875e6

FS
type: SiteQuality
SIO_000300: 5.610000000000001e-1

QD
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SIO_000300: 1.216e1

InbreedingCoeff
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SIO_000300: 4.93e-2

BaseQRankSum
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SIO_000300: -2.85e0

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 6614
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

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

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

BaseQRankSum
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SIO_000300: -3.091e0

MQRankSum
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SIO_000300: 1.86e-1

DP
type: SiteQuality
SIO_000300: 1.604974e6

ClippingRankSum
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SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
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SIO_000300: 8.300000000000001e0

FS
type: SiteQuality
SIO_000300: 9.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.679e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.14e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1
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variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.050129645635263e-4
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.74e-1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 1.272e0

ClippingRankSum
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MQ
type: SiteQuality
SIO_000300: 5.916e1

DP
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SIO_000300: 1.601358e6

BaseQRankSum
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SIO_000300: 1.05e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.69e-1

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

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

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

Other
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BaseQRankSum
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SIO_000300: -5.639999999999999e-1

InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.715e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.187e1

ReadPosRankSum
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DP
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VQSLOD
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SIO_000300: -6.5e-2

MQRankSum
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SIO_000300: -1.29e-1

ClippingRankSum
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SIO_000300: 1.73e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

Other
type: Population
allele count: 0
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num of homozygotes: 0

Latino
type: Population
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allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

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

DP
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MQ
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QD
type: SiteQuality
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InbreedingCoeff
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.59e-1

GenotypeDepth
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variant carriers: 0

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

Latino
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East Asian
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European (Non-Finnish)
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Other
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African
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South Asian
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InbreedingCoeff
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MQ
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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QD
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele num: 66652
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African
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European (Finnish)
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num of homozygotes: 0

East Asian
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Latino
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Other
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
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allele num: 66644
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele frequency: 4.495729057395475e-5
allele num: 66730
num of homozygotes: 0

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

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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allele num: 8654
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Latino
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

South Asian
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allele num: 16512
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MQRankSum
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SIO_000300: -7.38e-1

MQ
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SIO_000300: 5.96e1

QD
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VQSLOD
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: 3.0e-1

ReadPosRankSum
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SIO_000300: 1.68e0

ClippingRankSum
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SIO_000300: -2.197e0

FS
type: SiteQuality
SIO_000300: 5.94e-1

DP
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SIO_000300: 2.752892e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

East Asian
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Latino
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num of homozygotes: 0

African
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allele count: 0
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European (Non-Finnish)
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South Asian
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allele num: 16512
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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DP
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BaseQRankSum
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MQRankSum
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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variant carriers: 0

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

African
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European (Finnish)
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Latino
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Other
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East Asian
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South Asian
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European (Non-Finnish)
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Latino
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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MQ
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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African
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QD
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InbreedingCoeff
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VQSLOD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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European (Finnish)
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ClippingRankSum
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QD
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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East Asian
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Other
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QD
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MQRankSum
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MQ
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FS
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DP
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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South Asian
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MQRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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QD
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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South Asian
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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FS
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ReadPosRankSum
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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MQRankSum
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DP
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InbreedingCoeff
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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SIO_000300: 3.84e0

ClippingRankSum
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SIO_000300: -5.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.830000000000001e-1

QD
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SIO_000300: 1.034e1

GenotypeDepth
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variant carriers: 15

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

East Asian
type: Population
allele count: 79
allele frequency: 9.382422802850357e-3
allele num: 8420
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

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

South Asian
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allele count: 9
allele frequency: 5.717916137229987e-4
allele num: 15740
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.085953116481919e-5
allele num: 11006
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.536712050895903e-5
allele num: 65074
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.01e-1

MQRankSum
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SIO_000300: 1.87e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -5.4e-2

BaseQRankSum
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SIO_000300: 1.32e0

FS
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SIO_000300: 0.0e0

DP
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QD
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VQSLOD
type: SiteQuality
SIO_000300: 5.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.971405877680699e-4
allele num: 10072
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65332
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11056
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.815417e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

FS
type: SiteQuality
SIO_000300: 7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.51e0

QD
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SIO_000300: 1.318e1

MQ
type: SiteQuality
SIO_000300: 5.604e1

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e-1

GenotypeDepth
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variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15924
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65814
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.214e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.853037e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026634382566586e-5
allele num: 66080
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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QD
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SIO_000300: 1.231e1

MQ
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MQRankSum
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InbreedingCoeff
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VQSLOD
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

FS
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BaseQRankSum
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SIO_000300: -2.774e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e-1

GenotypeDepth
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variant carriers: 21

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 15

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.520386945122503e-5
allele num: 66366
num of homozygotes: 0

African
type: Population
allele count: 165
allele frequency: 1.603186941313642e-2
allele num: 10292
num of homozygotes: 2

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

Latino
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allele count: 15
allele frequency: 1.320190107375462e-3
allele num: 11362
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.179705846001731e-5
allele num: 16182
num of homozygotes: 0

Other
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allele num: 896
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East Asian
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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FS
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QD
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VQSLOD
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MQ
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DP
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 5.51e-1

ClippingRankSum
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SIO_000300: -2.55e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

Latino
type: Population
allele count: 1
allele frequency: 8.738203425375742e-5
allele num: 11444
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
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South Asian
type: Population
allele count: 4
allele frequency: 2.450079627587897e-4
allele num: 16326
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

QD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 3.2e-3

MQRankSum
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DP
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MQ
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Non-Finnish)
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MQ
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ReadPosRankSum
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FS
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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ClippingRankSum
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MQ
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DP
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InbreedingCoeff
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FS
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MQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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African
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South Asian
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European (Non-Finnish)
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Latino
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East Asian
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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QD
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GenotypeDepth
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African
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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Latino
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VQSLOD
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DP
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MQ
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FS
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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InbreedingCoeff
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South Asian
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East Asian
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African
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European (Non-Finnish)
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QD
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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FS
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East Asian
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African
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MQ
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FS
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VQSLOD
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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Other
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African
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FS
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DP
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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Latino
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South Asian
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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FS
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ClippingRankSum
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QD
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MQRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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East Asian
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African
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South Asian
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Other
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VQSLOD
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MQ
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MQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Finnish)
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Latino
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African
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Other
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ReadPosRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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MQRankSum
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MQ
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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Other
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MQ
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BaseQRankSum
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FS
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DP
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InbreedingCoeff
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QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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African
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -7.32e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
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SIO_000300: 9.44e-1

DP
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SIO_000300: 1.90238e6

ReadPosRankSum
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QD
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SIO_000300: 1.202e1

FS
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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Other
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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European (Finnish)
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East Asian
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allele frequency: 3.468208092485549e-4
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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FS
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ClippingRankSum
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QD
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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Latino
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South Asian
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Other
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European (Finnish)
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African
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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South Asian
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Latino
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East Asian
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European (Finnish)
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European (Non-Finnish)
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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Other
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European (Finnish)
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East Asian
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South Asian
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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DP
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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Other
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African
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East Asian
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Latino
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European (Finnish)
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MQ
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ClippingRankSum
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MQRankSum
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QD
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DP
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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African
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East Asian
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European (Non-Finnish)
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VQSLOD
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DP
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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MQRankSum
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GenotypeDepth
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European (Non-Finnish)
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East Asian
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Latino
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African
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FS
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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QD
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MQ
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ReadPosRankSum
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African
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

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

South Asian
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Other
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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FS
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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European (Finnish)
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South Asian
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European (Non-Finnish)
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QD
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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East Asian
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Latino
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African
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MQ
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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MQ
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DP
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QD
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MQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4557
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14937
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3726
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20811
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
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: 11510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.215509906405737e-4
allele num: 16454
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.113e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

FS
type: SiteQuality
SIO_000300: 7.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

DP
type: SiteQuality
SIO_000300: 2.385311e6

QD
type: SiteQuality
SIO_000300: 1.097e1

GenotypeDepth
all individuals: 1503
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4383
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13723
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 662
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 992
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 694
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 677
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 705
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2695
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 621
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2602
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 437
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8181
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14937
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 95
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4558
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3197
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3724
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20902
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.029385034837928e-4
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.385954e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.292e0