12-1040436-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040436
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040436
    reference: chr 12
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.136A>C
  hgvsp: ENST00000541619.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.218A>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1126A>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.136A>C
  hgvsp: ENST00000358495.3:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.136A>C
  hgvsp: ENST00000461568.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1126A>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.93A>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.235A>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.136A>C
  hgvsp: ENST00000397230.2:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.136A>C
  hgvsp: ENST00000542785.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.136A>C
  hgvsp: ENST00000543912.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.136A>C
  hgvsp: ENST00000536177.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.136A>C
  hgvsp: ENST00000468231.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.136A>C
  hgvsp: ENST00000430095.2:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.179A>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.154A>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.136A>C
  hgvsp: ENST00000544742.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.136A>C
  hgvsp: ENST00000545564.1:c.136A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg46Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

12-1040446-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040446
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040446
    reference: chr 12
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1136C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.126C>G
  hgvsp: ENST00000358495.3:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.83C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1136C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.126C>G
  hgvsp: ENST00000461568.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.126C>G
  hgvsp: ENST00000545564.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.126C>G
  hgvsp: ENST00000536177.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.208C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.126C>G
  hgvsp: ENST00000541619.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.126C>G
  hgvsp: ENST00000468231.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.169C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.126C>G
  hgvsp: ENST00000542785.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.126C>G
  hgvsp: ENST00000397230.2:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.126C>G
  hgvsp: ENST00000430095.2:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.126C>G
  hgvsp: ENST00000544742.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.225C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.144C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.126C>G
  hgvsp: ENST00000543912.1:c.126C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala42Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

12-1040454-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040454
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040454
    reference: chr 12
allele count: 1
allele frequency: 8.331111703545721e-6
allele num: 120032
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.118C>G
  hgvsp: ENSP00000443254.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.200C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.118C>G
  hgvsp: ENSP00000436008.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.118C>G
  hgvsp: ENSP00000387901.2:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.118C>G
  hgvsp: ENSP00000440486.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.118C>G
  hgvsp: ENSP00000440268.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.118C>G
  hgvsp: ENSP00000439583.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.75C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.118C>G
  hgvsp: ENSP00000434703.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.118C>G
  hgvsp: ENSP00000441073.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.118C>G
  hgvsp: ENSP00000351284.3:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1144C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.118C>G
  hgvsp: ENSP00000438965.1:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.118C>G
  hgvsp: ENSP00000380407.2:p.Gln40Glu
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.136C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.161C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1144C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.217C>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln40Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD

12-1040455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040455
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040455
    reference: chr 12
allele count: 1
allele frequency: 8.331666999933347e-6
allele num: 120024
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.117C>T
  hgvsp: ENST00000545564.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.135C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.117C>T
  hgvsp: ENST00000536177.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.117C>T
  hgvsp: ENST00000542785.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.117C>T
  hgvsp: ENST00000468231.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.117C>T
  hgvsp: ENST00000543912.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.117C>T
  hgvsp: ENST00000430095.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.117C>T
  hgvsp: ENST00000397230.2:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.117C>T
  hgvsp: ENST00000544742.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.117C>T
  hgvsp: ENST00000461568.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1145C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.117C>T
  hgvsp: ENST00000541619.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.160C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.199C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.74C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.117C>T
  hgvsp: ENST00000358495.3:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.216C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1145C>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

12-1040456-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040456
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040456
    reference: chr 12
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.116T>C
  hgvsp: ENSP00000380407.2:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.73T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.116T>C
  hgvsp: ENSP00000441073.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1146T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.134T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.116T>C
  hgvsp: ENSP00000436008.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.116T>C
  hgvsp: ENSP00000439583.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.116T>C
  hgvsp: ENSP00000434703.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1146T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.198T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.116T>C
  hgvsp: ENSP00000440268.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.215T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.116T>C
  hgvsp: ENSP00000438965.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.116T>C
  hgvsp: ENSP00000443254.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.116T>C
  hgvsp: ENSP00000440486.1:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.159T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.116T>C
  hgvsp: ENSP00000351284.3:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.116T>C
  hgvsp: ENSP00000387901.2:p.Ile39Thr
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile39Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff

12-1040460-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040460
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040460
    reference: chr 12
allele count: 2
allele frequency: 1.668056713928273e-5
allele num: 119900
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.194G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.112G>A
  hgvsp: ENSP00000439583.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.112G>A
  hgvsp: ENSP00000438965.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.112G>A
  hgvsp: ENSP00000441073.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.112G>A
  hgvsp: ENSP00000387901.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.112G>A
  hgvsp: ENSP00000443254.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.112G>A
  hgvsp: ENSP00000440486.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.112G>A
  hgvsp: ENSP00000351284.3:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.112G>A
  hgvsp: ENSP00000440268.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.112G>A
  hgvsp: ENSP00000436008.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.112G>A
  hgvsp: ENSP00000434703.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.130G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.211G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.69G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1150G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.112G>A
  hgvsp: ENSP00000380407.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.155G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1150G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala38Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-1040463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040463
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040463
    reference: chr 12
allele count: 1
allele frequency: 8.347802858287698e-6
allele num: 119792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1153C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.109C>T
  hgvsp: ENSP00000440268.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.109C>T
  hgvsp: ENSP00000441073.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.66C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.109C>T
  hgvsp: ENSP00000436008.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.109C>T
  hgvsp: ENSP00000387901.2:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.127C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.109C>T
  hgvsp: ENSP00000440486.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.109C>T
  hgvsp: ENSP00000443254.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.109C>T
  hgvsp: ENSP00000438965.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.109C>T
  hgvsp: ENSP00000434703.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.109C>T
  hgvsp: ENSP00000351284.3:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1153C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.109C>T
  hgvsp: ENSP00000439583.1:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.109C>T
  hgvsp: ENSP00000380407.2:p.Gln37Ter
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.208C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.152C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.191C>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln37Ter
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

12-1040467-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040467
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040467
    reference: chr 12
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.148G>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.105G>C
  hgvsp: ENSP00000436008.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.105G>C
  hgvsp: ENSP00000440486.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.62G>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1157G>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1157G>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.105G>C
  hgvsp: ENSP00000440268.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.105G>C
  hgvsp: ENSP00000387901.2:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.105G>C
  hgvsp: ENSP00000438965.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.105G>C
  hgvsp: ENSP00000351284.3:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.105G>C
  hgvsp: ENSP00000439583.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.105G>C
  hgvsp: ENSP00000441073.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.123G>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.187G>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.105G>C
  hgvsp: ENSP00000434703.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.204G>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.105G>C
  hgvsp: ENSP00000443254.1:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.105G>C
  hgvsp: ENSP00000380407.2:p.Glu35Asp
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu35Asp
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

12-1040471-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040471
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040471
    reference: chr 12
allele count: 28
allele frequency: 2.346355606951917e-4
allele num: 119334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.101A>G
  hgvsp: ENSP00000441073.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.101A>G
  hgvsp: ENSP00000436008.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.119A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.200A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.101A>G
  hgvsp: ENSP00000440268.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.58A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.101A>G
  hgvsp: ENSP00000387901.2:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.101A>G
  hgvsp: ENSP00000438965.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.101A>G
  hgvsp: ENSP00000351284.3:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.183A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.101A>G
  hgvsp: ENSP00000440486.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.101A>G
  hgvsp: ENSP00000434703.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.101A>G
  hgvsp: ENSP00000380407.2:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1161A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.101A>G
  hgvsp: ENSP00000439583.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.101A>G
  hgvsp: ENSP00000443254.1:p.Glu34Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.144A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1161A>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu34Gly
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

12-1040485-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040485
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040485
    reference: chr 12
allele count: 51
allele frequency: 4.326433661350526e-4
allele num: 117880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.87C>T
  hgvsp: ENST00000461568.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1175C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.186C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.87C>T
  hgvsp: ENST00000468231.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.87C>T
  hgvsp: ENST00000542785.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.87C>T
  hgvsp: ENST00000397230.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.87C>T
  hgvsp: ENST00000541619.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.130C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.87C>T
  hgvsp: ENST00000545564.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.105C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.44C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.87C>T
  hgvsp: ENST00000430095.2:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.87C>T
  hgvsp: ENST00000544742.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.87C>T
  hgvsp: ENST00000358495.3:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.87C>T
  hgvsp: ENST00000543912.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.87C>T
  hgvsp: ENST00000536177.1:c.87C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1175C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.169C>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.87C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

12-1040487-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040487
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040487
    reference: chr 12
allele count: 1
allele frequency: 8.500365515717176e-6
allele num: 117642
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.85T>A
  hgvsp: ENSP00000380407.2:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.85T>A
  hgvsp: ENSP00000443254.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.85T>A
  hgvsp: ENSP00000387901.2:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.85T>A
  hgvsp: ENSP00000436008.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.85T>A
  hgvsp: ENSP00000439583.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1177T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.103T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.85T>A
  hgvsp: ENSP00000438965.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.85T>A
  hgvsp: ENSP00000440486.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.85T>A
  hgvsp: ENSP00000441073.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.85T>A
  hgvsp: ENSP00000434703.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.85T>A
  hgvsp: ENSP00000440268.1:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.85T>A
  hgvsp: ENSP00000351284.3:p.Cys29Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.184T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.167T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.128T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1177T>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys29Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP

12-1040494-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040494
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040494
    reference: chr 12
allele count: 1
allele frequency: 8.577947811765514e-6
allele num: 116578
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1184G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.167-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.103-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.184-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1184G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.128-7G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.85-7G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1135
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.85-7G>A
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

12-1040495-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040495
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040495
    reference: chr 12
allele count: 2
allele frequency: 1.717652312818839e-5
allele num: 116438
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1185G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1185G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.184-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.128-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.167-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.103-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.85-8G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.85-8G>A
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/12-1040501-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040501
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040501
    reference: chr 12
allele count: 2
allele frequency: 1.732471717399213e-5
allele num: 115442
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.184-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1191T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1191T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.128-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.85-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.103-14T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.167-14T>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-1040518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040518
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040518
    reference: chr 12
allele count: 2
allele frequency: 1.77166749344483e-5
allele num: 112888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1208G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.184-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.167-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.103-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.128-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1208G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.85-31G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

12-1040519-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040519
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040519
    reference: chr 12
allele count: 1
allele frequency: 8.86053517632465e-6
allele num: 112860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1209T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.128-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.184-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.103-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.167-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1209T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.85-32T>C
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6100
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2903
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP

12-1040539-CATT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1040539
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1040536
    reference: chr 12
allele count: 7
allele frequency: 6.305056655437662e-5
allele num: 111022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-1232_69-1230delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.184-55_184-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-55_42-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.103-55_103-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-1232_-45-1230delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.167-55_167-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.128-55_128-53delAAT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.85-55_85-53delAAT
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6098
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: CATT
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

12-1042092-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042092
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042092
    reference: chr 12
allele count: 2
allele frequency: 1.649022129876983e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2782A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1605A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2782A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+49A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+49A>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-1042095-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042095
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042095
    reference: chr 12
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1608T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2785T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2785T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+46T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+46T>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum

12-1042096-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042096
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042096
    reference: chr 12
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2786G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2786G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1609G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+45G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1941
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20839
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum

12-1042103-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042103
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042103
    reference: chr 12
allele count: 2029
allele frequency: 1.672960538249699e-2
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2793G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2793G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1616G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+38G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 2408
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 3.75e1
  variant carriers: 77
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 6.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
num of homozygotes: 85
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/12-1042117-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042117
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042117
    reference: chr 12
allele count: 3
allele frequency: 2.472636159831201e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2807G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1630G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2807G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+24G>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19899
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

12-1042118-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042118
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042118
    reference: chr 12
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2808G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1631G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2808G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+23G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3265
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS

12-1042119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042119
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042119
    reference: chr 12
allele count: 10
allele frequency: 8.241577108195424e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1632C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2809C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2809C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+22C>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2865
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/12-1042121-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042121
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042121
    reference: chr 12
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2811G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1634G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2811G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+20G>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-1042131-CCA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042131
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042129
    reference: chr 12
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2823_69-2822delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1646_42-1645delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+8_102+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2823_-45-2822delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+8_183+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+8_127+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+8_166+9delTG
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+8_84+9delTG
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.84+8_84+9delTG
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: CCA
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

12-1042138-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042138
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042138
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1651A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2828A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.183+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.166+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.127+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2828A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.102+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.84+3A>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.84+3A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP

12-1042152-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042152
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042152
    reference: chr 12
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.73T>C
  hgvsp: ENSP00000440268.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.73T>C
  hgvsp: ENSP00000436008.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.91T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2842T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.73T>C
  hgvsp: ENSP00000441073.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1665T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.73T>C
  hgvsp: ENSP00000380407.2:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.73T>C
  hgvsp: ENSP00000443254.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.73T>C
  hgvsp: ENSP00000387901.2:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.73T>C
  hgvsp: ENSP00000440486.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.73T>C
  hgvsp: ENSP00000439583.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.73T>C
  hgvsp: ENSP00000351284.3:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.155T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.73T>C
  hgvsp: ENSP00000438965.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.73T>C
  hgvsp: ENSP00000434703.1:p.Cys25Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.116T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.172T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2842T>C
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3522
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys25Arg
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum

12-1042164-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042164
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042164
    reference: chr 12
allele count: 1
allele frequency: 8.238589553468446e-6
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.61G>A
  hgvsp: ENSP00000440268.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.61G>A
  hgvsp: ENSP00000351284.3:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2854G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.61G>A
  hgvsp: ENSP00000440486.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.79G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.61G>A
  hgvsp: ENSP00000387901.2:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.61G>A
  hgvsp: ENSP00000441073.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.61G>A
  hgvsp: ENSP00000436008.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2854G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.61G>A
  hgvsp: ENSP00000380407.2:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.61G>A
  hgvsp: ENSP00000439583.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.143G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.104G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1677G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.61G>A
  hgvsp: ENSP00000443254.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.61G>A
  hgvsp: ENSP00000434703.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.160G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.61G>A
  hgvsp: ENSP00000438965.1:p.Gly21Ser
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly21Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

12-1042183-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042183
    reference: chr 12
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2873C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.42C>T
  hgvsp: ENST00000468231.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.42C>T
  hgvsp: ENST00000545564.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.42C>T
  hgvsp: ENST00000430095.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.42C>T
  hgvsp: ENST00000461568.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.42C>T
  hgvsp: ENST00000544742.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.60C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.124C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.42C>T
  hgvsp: ENST00000536177.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.42C>T
  hgvsp: ENST00000542785.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.42C>T
  hgvsp: ENST00000541619.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.42C>T
  hgvsp: ENST00000358495.3:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2873C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1696C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.42C>T
  hgvsp: ENST00000543912.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.141C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.85C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.42C>T
  hgvsp: ENST00000397230.2:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum

12-1042183-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042183
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042183
    reference: chr 12
allele count: 9
allele frequency: 7.415708117728487e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.42C>G
  hgvsp: ENSP00000436008.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.42C>G
  hgvsp: ENSP00000439583.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2873C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.42C>G
  hgvsp: ENSP00000351284.3:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.42C>G
  hgvsp: ENSP00000440268.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.141C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.42C>G
  hgvsp: ENSP00000440486.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.42C>G
  hgvsp: ENSP00000438965.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.42C>G
  hgvsp: ENSP00000443254.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.42C>G
  hgvsp: ENSP00000387901.2:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.42C>G
  hgvsp: ENSP00000434703.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.85C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.42C>G
  hgvsp: ENSP00000441073.1:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1696C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.42C>G
  hgvsp: ENSP00000380407.2:p.Ser14Arg
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.60C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.124C>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2873C>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

12-1042185-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042185
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042185
    reference: chr 12
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.58A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.40A>G
  hgvsp: ENSP00000440486.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.40A>G
  hgvsp: ENSP00000351284.3:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.40A>G
  hgvsp: ENSP00000387901.2:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.122A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.40A>G
  hgvsp: ENSP00000380407.2:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.40A>G
  hgvsp: ENSP00000441073.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.40A>G
  hgvsp: ENSP00000439583.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1698A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.40A>G
  hgvsp: ENSP00000443254.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2875A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.40A>G
  hgvsp: ENSP00000436008.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.40A>G
  hgvsp: ENSP00000438965.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.83A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2875A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.139A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.40A>G
  hgvsp: ENSP00000434703.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.40A>G
  hgvsp: ENSP00000440268.1:p.Ser14Gly
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser14Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

12-1042190-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042190
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042190
    reference: chr 12
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.134G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.78G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.35G>A
  hgvsp: ENSP00000434703.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.35G>A
  hgvsp: ENSP00000440268.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.35G>A
  hgvsp: ENSP00000436008.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.35G>A
  hgvsp: ENSP00000438965.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.35G>A
  hgvsp: ENSP00000351284.3:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.35G>A
  hgvsp: ENSP00000440486.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.35G>A
  hgvsp: ENSP00000387901.2:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.35G>A
  hgvsp: ENSP00000441073.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.117G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2880G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.53G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.35G>A
  hgvsp: ENSP00000439583.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.35G>A
  hgvsp: ENSP00000443254.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.35G>A
  hgvsp: ENSP00000380407.2:p.Arg12His
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1703G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2880G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg12His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

12-1042191-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042191
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042191
    reference: chr 12
allele count: 3
allele frequency: 2.47255464345762e-5
allele num: 121332
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.34C>T
  hgvsp: ENSP00000440268.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.34C>T
  hgvsp: ENSP00000440486.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.34C>T
  hgvsp: ENSP00000436008.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.52C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1704C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2881C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.133C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.34C>T
  hgvsp: ENSP00000443254.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.34C>T
  hgvsp: ENSP00000380407.2:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.34C>T
  hgvsp: ENSP00000351284.3:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.34C>T
  hgvsp: ENSP00000387901.2:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.34C>T
  hgvsp: ENSP00000434703.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.77C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2881C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.34C>T
  hgvsp: ENSP00000441073.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.34C>T
  hgvsp: ENSP00000438965.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.34C>T
  hgvsp: ENSP00000439583.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.116C>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg12Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

12-1042195-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042195
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042195
    reference: chr 12
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.48A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.30A>G
  hgvsp: ENST00000536177.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.30A>G
  hgvsp: ENST00000358495.3:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.112A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.129A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.30A>G
  hgvsp: ENST00000461568.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2885A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.30A>G
  hgvsp: ENST00000397230.2:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.30A>G
  hgvsp: ENST00000543912.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.30A>G
  hgvsp: ENST00000430095.2:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.30A>G
  hgvsp: ENST00000542785.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.30A>G
  hgvsp: ENST00000541619.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.30A>G
  hgvsp: ENST00000545564.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.30A>G
  hgvsp: ENST00000468231.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.73A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.30A>G
  hgvsp: ENST00000544742.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1708A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2885A>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly10Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD

12-1042203-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042203
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042203
    reference: chr 12
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2893A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.22A>G
  hgvsp: ENSP00000434703.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.65A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.22A>G
  hgvsp: ENSP00000351284.3:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.22A>G
  hgvsp: ENSP00000439583.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.40A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.22A>G
  hgvsp: ENSP00000440486.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.22A>G
  hgvsp: ENSP00000440268.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.22A>G
  hgvsp: ENSP00000441073.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.22A>G
  hgvsp: ENSP00000387901.2:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.22A>G
  hgvsp: ENSP00000443254.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2893A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1716A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.22A>G
  hgvsp: ENSP00000436008.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.121A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.22A>G
  hgvsp: ENSP00000380407.2:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.104A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.22A>G
  hgvsp: ENSP00000438965.1:p.Ile8Val
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile8Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

12-1042206-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042206
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042206
    reference: chr 12
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.19G>A
  hgvsp: ENSP00000440268.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1719G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.19G>A
  hgvsp: ENSP00000443254.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.19G>A
  hgvsp: ENSP00000440486.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.19G>A
  hgvsp: ENSP00000438965.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.19G>A
  hgvsp: ENSP00000436008.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2896G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.19G>A
  hgvsp: ENSP00000351284.3:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.19G>A
  hgvsp: ENSP00000441073.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.19G>A
  hgvsp: ENSP00000387901.2:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.19G>A
  hgvsp: ENSP00000434703.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.19G>A
  hgvsp: ENSP00000439583.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.19G>A
  hgvsp: ENSP00000380407.2:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.118G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.62G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.37G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.101G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2896G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala7Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-1042224-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042224
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042224
    reference: chr 12
allele count: 1
allele frequency: 8.249327679794096e-6
allele num: 121222
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.100A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.1A>T
  hgvsp: ENSP00000441073.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2914A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.1A>T
  hgvsp: ENSP00000439583.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.1A>T
  hgvsp: ENSP00000380407.2:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.1A>T
  hgvsp: ENSP00000434703.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.1A>T
  hgvsp: ENSP00000440486.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.19A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.1A>T
  hgvsp: ENSP00000387901.2:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.44A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.1A>T
  hgvsp: ENSP00000351284.3:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440268
  ensembl transcript: ENST00000545564
  gene symbol: RAD52
  hgvsc: ENST00000545564.1:c.1A>T
  hgvsp: ENSP00000440268.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.1A>T
  hgvsp: ENSP00000436008.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.83A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.1A>T
  hgvsp: ENSP00000438965.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2914A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1737A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.1A>T
  hgvsp: ENSP00000443254.1:p.Met1?
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2092
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met1?
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

12-1042225-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042225
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042225
    reference: chr 12
allele count: 1
allele frequency: 8.249191579225235e-6
allele num: 121224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.99G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2915G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.18G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.43G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2915G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.82G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1738G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-1G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19868
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3649
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2650
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS

12-1042239-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042239
    reference: chr 12
allele count: 2
allele frequency: 1.654013463669594e-5
allele num: 120918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.85T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000228345
  gene symbol: RAD52
  hgvsc: ENST00000228345.5:n.4T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.29T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.68T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1752T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2929T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2929T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-15T>C
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3270
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

12-1042246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042246
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042246
    reference: chr 12
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2936A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2936A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1759A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-4A>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-4A>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-18-4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-1042248-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042248
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042248
    reference: chr 12
allele count: 1
allele frequency: 8.308684236764266e-6
allele num: 120356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2938A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-6A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2938A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1761A>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3282
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3561
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.-18-6A>T
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

12-1042252-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042252
    reference: chr 12
allele count: 8
allele frequency: 6.695008870886754e-5
allele num: 119492
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1765A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2942A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2942A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-10A>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-10A>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19848
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum

12-1042254-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042254
    reference: chr 12
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2944T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1767T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2944T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-12T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-12T>C
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

12-1042254-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042254
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042254
    reference: chr 12
allele count: 1
allele frequency: 8.394754957102802e-6
allele num: 119122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2944T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2944T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-12T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1767T>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-12T>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3269
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3589
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

12-1042259-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042259
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042259
    reference: chr 12
allele count: 8
allele frequency: 6.891680019296704e-5
allele num: 116082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1772G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2949G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-17G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2949G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-17G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1874
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

12-1042260-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042260
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042260
    reference: chr 12
allele count: 8
allele frequency: 7.081024624263131e-5
allele num: 112978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1773C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2950C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2950C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-18C>T
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-18C>T
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2300
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18865
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3190
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

12-1042261-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042262
    reference: chr 12
allele count: 1553
allele frequency: 1.507649891270581e-2
allele num: 103008
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2952dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1775dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2952dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-20dupT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-20dupT
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 307
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 6.25e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 5.75e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 7.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 8.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

12-1042261-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042260
    reference: chr 12
allele count: 29846
allele frequency: 2.897444858651755e-1
allele num: 103008
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2952delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1775delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2952delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-20delT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-20delT
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 501
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 233
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 9.25e1
  variant carriers: 969
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 6.25e1
  variant carriers: 2162
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 8.75e1
  variant carriers: 1263
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.75e1
  variant carriers: 889
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 651
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 675
genotype quality: GenotypeQuality
num of homozygotes: 3833
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: GA
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

12-1042261-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042261
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042259
    reference: chr 12
allele count: 2
allele frequency: 1.941596769182976e-5
allele num: 103008
alternate allele: G
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1287
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3972
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3725
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4516
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1966
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3030
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4435
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9865
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1113
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33537
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5123
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1247
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12636
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.749658816530776e-5
  allele num: 57154
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7570
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 756
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
reference allele: GAA
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

12-1042262-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042262
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042262
    reference: chr 12
allele count: 2
allele frequency: 4.558924093913836e-5
allele num: 43870
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1775T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2952T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2952T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-20T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-20T>C
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-1042263-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042263
    reference: chr 12
allele count: 10
allele frequency: 1.511076188461422e-4
allele num: 66178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2953T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2953T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1776T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-21T>C
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3628
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3286
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2120
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2976
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/12-1042268-AAAAC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042268
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042264
    reference: chr 12
allele count: 1
allele frequency: 8.352404657300837e-6
allele num: 119726
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-30_65-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1785_42-1782delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2962_-45-2959delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-30_82-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2962_69-2959delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-30_-18-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-30_26-27delGTTT
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4469
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: AAAAC
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/12-1042269-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042269
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042269
    reference: chr 12
allele count: 4
allele frequency: 3.341966747430863e-5
allele num: 119690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2959T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1782T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2959T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-27T>G
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-27T>G
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7796
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4033
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

12-1042273-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042273
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042273
    reference: chr 12
allele count: 1
allele frequency: 8.379981899239097e-6
allele num: 119332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2963T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1786T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2963T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-31T>C
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-31T>C
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4474
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4040
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

12-1042276-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1042276
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1042276
    reference: chr 12
allele count: 1
allele frequency: 8.389965601141035e-6
allele num: 119190
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000351284
  ensembl transcript: ENST00000358495
  gene symbol: RAD52
  hgvsc: ENST00000358495.3:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000542584
  gene symbol: RAD52
  hgvsc: ENST00000542584.1:n.69-2966G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000481052
  gene symbol: RAD52
  hgvsc: ENST00000481052.1:n.26-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000445245
  ensembl transcript: ENST00000539046
  gene symbol: RAD52
  hgvsc: ENST00000539046.1:c.-45-2966G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000439583
  ensembl transcript: ENST00000543912
  gene symbol: RAD52
  hgvsc: ENST00000543912.1:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000438965
  ensembl transcript: ENST00000541619
  gene symbol: RAD52
  hgvsc: ENST00000541619.1:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000380407
  ensembl transcript: ENST00000397230
  gene symbol: RAD52
  hgvsc: ENST00000397230.2:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000434703
  ensembl transcript: ENST00000468231
  gene symbol: RAD52
  hgvsc: ENST00000468231.1:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000436008
  ensembl transcript: ENST00000461568
  gene symbol: RAD52
  hgvsc: ENST00000461568.1:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000387901
  ensembl transcript: ENST00000430095
  gene symbol: RAD52
  hgvsc: ENST00000430095.2:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000545967
  gene symbol: RAD52
  hgvsc: ENST00000545967.1:n.42-1789G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000443254
  ensembl transcript: ENST00000544742
  gene symbol: RAD52
  hgvsc: ENST00000544742.1:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000488642
  gene symbol: RAD52
  hgvsc: ENST00000488642.2:n.82-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000440486
  ensembl transcript: ENST00000536177
  gene symbol: RAD52
  hgvsc: ENST00000536177.1:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl transcript: ENST00000463750
  gene symbol: RAD52
  hgvsc: ENST00000463750.1:n.65-34G>A
  variant of: http://identifiers.org/hgnc/9824
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000002016
  ensembl protein: ENSP00000441073
  ensembl transcript: ENST00000542785
  gene symbol: RAD52
  hgvsc: ENST00000542785.1:c.-18-34G>A
  variant of: http://identifiers.org/hgnc/9824
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2785
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1640
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: BaseQRankSum

12-1137020-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1137020
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1137020
    reference: chr 12
allele count: 391
allele frequency: 3.63518036444775e-3
allele num: 107560
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000354158
  ensembl transcript: ENST00000360905
  gene symbol: ERC1
  hgvsc: ENST00000360905.4:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000465628
  ensembl transcript: ENST00000545318
  gene symbol: ERC1
  hgvsc: ENST00000545318.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000380386
  ensembl transcript: ENST00000397203
  gene symbol: ERC1
  hgvsc: ENST00000397203.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000438546
  ensembl transcript: ENST00000543086
  gene symbol: ERC1
  hgvsc: ENST00000543086.3:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000340054
  ensembl transcript: ENST00000347735
  gene symbol: ERC1
  hgvsc: ENST00000347735.6:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000410064
  ensembl transcript: ENST00000440394
  gene symbol: ERC1
  hgvsc: ENST00000440394.3:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442739
  ensembl transcript: ENST00000546231
  gene symbol: ERC1
  hgvsc: ENST00000546231.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442976
  ensembl transcript: ENST00000545948
  gene symbol: ERC1
  hgvsc: ENST00000545948.1:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000347621
  ensembl transcript: ENST00000355446
  gene symbol: ERC1
  hgvsc: ENST00000355446.5:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000445336
  ensembl transcript: ENST00000542302
  gene symbol: ERC1
  hgvsc: ENST00000542302.2:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000467476
  ensembl transcript: ENST00000592048
  gene symbol: ERC1
  hgvsc: ENST00000592048.1:c.-18-485G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000464959
  ensembl transcript: ENST00000589132
  gene symbol: ERC1
  hgvsc: ENST00000589132.1:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000468263
  ensembl transcript: ENST00000589028
  gene symbol: ERC1
  hgvsc: ENST00000589028.1:c.-50G>T
  variant of: http://identifiers.org/hgnc/17072
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1692
  bin: 1.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 7.5e0
  variant carriers: 100
genotype depth: GenotypeDepth
  all individuals: 4978
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 12937
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 9.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.5e0
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 21730
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 6.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.75e1
  variant carriers: 33
genotype quality: GenotypeQuality
num of homozygotes: 8
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

12-1137027-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1137027
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1137027
    reference: chr 12
allele count: 4
allele frequency: 3.701578723325498e-5
allele num: 108062
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000354158
  ensembl transcript: ENST00000360905
  gene symbol: ERC1
  hgvsc: ENST00000360905.4:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000438546
  ensembl transcript: ENST00000543086
  gene symbol: ERC1
  hgvsc: ENST00000543086.3:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442739
  ensembl transcript: ENST00000546231
  gene symbol: ERC1
  hgvsc: ENST00000546231.2:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000410064
  ensembl transcript: ENST00000440394
  gene symbol: ERC1
  hgvsc: ENST00000440394.3:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442976
  ensembl transcript: ENST00000545948
  gene symbol: ERC1
  hgvsc: ENST00000545948.1:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000468263
  ensembl transcript: ENST00000589028
  gene symbol: ERC1
  hgvsc: ENST00000589028.1:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000445336
  ensembl transcript: ENST00000542302
  gene symbol: ERC1
  hgvsc: ENST00000542302.2:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000347621
  ensembl transcript: ENST00000355446
  gene symbol: ERC1
  hgvsc: ENST00000355446.5:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000340054
  ensembl transcript: ENST00000347735
  gene symbol: ERC1
  hgvsc: ENST00000347735.6:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000467476
  ensembl transcript: ENST00000592048
  gene symbol: ERC1
  hgvsc: ENST00000592048.1:c.-18-478T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000380386
  ensembl transcript: ENST00000397203
  gene symbol: ERC1
  hgvsc: ENST00000397203.2:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000464959
  ensembl transcript: ENST00000589132
  gene symbol: ERC1
  hgvsc: ENST00000589132.1:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000465628
  ensembl transcript: ENST00000545318
  gene symbol: ERC1
  hgvsc: ENST00000545318.2:c.-43T>C
  variant of: http://identifiers.org/hgnc/17072
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-1137044-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1137044
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1137044
    reference: chr 12
allele count: 20
allele frequency: 1.839384909686201e-4
allele num: 108732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000468263
  ensembl transcript: ENST00000589028
  gene symbol: ERC1
  hgvsc: ENST00000589028.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000464959
  ensembl transcript: ENST00000589132
  gene symbol: ERC1
  hgvsc: ENST00000589132.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000438546
  ensembl transcript: ENST00000543086
  gene symbol: ERC1
  hgvsc: ENST00000543086.3:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000380386
  ensembl transcript: ENST00000397203
  gene symbol: ERC1
  hgvsc: ENST00000397203.2:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000465628
  ensembl transcript: ENST00000545318
  gene symbol: ERC1
  hgvsc: ENST00000545318.2:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000467476
  ensembl transcript: ENST00000592048
  gene symbol: ERC1
  hgvsc: ENST00000592048.1:c.-18-461C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000445336
  ensembl transcript: ENST00000542302
  gene symbol: ERC1
  hgvsc: ENST00000542302.2:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000347621
  ensembl transcript: ENST00000355446
  gene symbol: ERC1
  hgvsc: ENST00000355446.5:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000340054
  ensembl transcript: ENST00000347735
  gene symbol: ERC1
  hgvsc: ENST00000347735.6:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000354158
  ensembl transcript: ENST00000360905
  gene symbol: ERC1
  hgvsc: ENST00000360905.4:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442739
  ensembl transcript: ENST00000546231
  gene symbol: ERC1
  hgvsc: ENST00000546231.2:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442976
  ensembl transcript: ENST00000545948
  gene symbol: ERC1
  hgvsc: ENST00000545948.1:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000410064
  ensembl transcript: ENST00000440394
  gene symbol: ERC1
  hgvsc: ENST00000440394.3:c.-26C>T
  variant of: http://identifiers.org/hgnc/17072
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

12-1137047-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1137047
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1137047
    reference: chr 12
allele count: 1
allele frequency: 9.166238908850921e-6
allele num: 109096
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000340054
  ensembl transcript: ENST00000347735
  gene symbol: ERC1
  hgvsc: ENST00000347735.6:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000347621
  ensembl transcript: ENST00000355446
  gene symbol: ERC1
  hgvsc: ENST00000355446.5:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000410064
  ensembl transcript: ENST00000440394
  gene symbol: ERC1
  hgvsc: ENST00000440394.3:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000464959
  ensembl transcript: ENST00000589132
  gene symbol: ERC1
  hgvsc: ENST00000589132.1:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442976
  ensembl transcript: ENST00000545948
  gene symbol: ERC1
  hgvsc: ENST00000545948.1:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442739
  ensembl transcript: ENST00000546231
  gene symbol: ERC1
  hgvsc: ENST00000546231.2:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000354158
  ensembl transcript: ENST00000360905
  gene symbol: ERC1
  hgvsc: ENST00000360905.4:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000445336
  ensembl transcript: ENST00000542302
  gene symbol: ERC1
  hgvsc: ENST00000542302.2:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000468263
  ensembl transcript: ENST00000589028
  gene symbol: ERC1
  hgvsc: ENST00000589028.1:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000438546
  ensembl transcript: ENST00000543086
  gene symbol: ERC1
  hgvsc: ENST00000543086.3:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000380386
  ensembl transcript: ENST00000397203
  gene symbol: ERC1
  hgvsc: ENST00000397203.2:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000465628
  ensembl transcript: ENST00000545318
  gene symbol: ERC1
  hgvsc: ENST00000545318.2:c.-23A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000467476
  ensembl transcript: ENST00000592048
  gene symbol: ERC1
  hgvsc: ENST00000592048.1:c.-18-458A>G
  variant of: http://identifiers.org/hgnc/17072
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13049
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3459
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-1137048-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1137048
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1137048
    reference: chr 12
allele count: 1919
allele frequency: 1.755782462304201e-2
allele num: 109296
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000380386
  ensembl transcript: ENST00000397203
  gene symbol: ERC1
  hgvsc: ENST00000397203.2:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442739
  ensembl transcript: ENST00000546231
  gene symbol: ERC1
  hgvsc: ENST00000546231.2:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442976
  ensembl transcript: ENST00000545948
  gene symbol: ERC1
  hgvsc: ENST00000545948.1:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000354158
  ensembl transcript: ENST00000360905
  gene symbol: ERC1
  hgvsc: ENST00000360905.4:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000445336
  ensembl transcript: ENST00000542302
  gene symbol: ERC1
  hgvsc: ENST00000542302.2:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000464959
  ensembl transcript: ENST00000589132
  gene symbol: ERC1
  hgvsc: ENST00000589132.1:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000347621
  ensembl transcript: ENST00000355446
  gene symbol: ERC1
  hgvsc: ENST00000355446.5:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000467476
  ensembl transcript: ENST00000592048
  gene symbol: ERC1
  hgvsc: ENST00000592048.1:c.-18-457C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000468263
  ensembl transcript: ENST00000589028
  gene symbol: ERC1
  hgvsc: ENST00000589028.1:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000410064
  ensembl transcript: ENST00000440394
  gene symbol: ERC1
  hgvsc: ENST00000440394.3:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000438546
  ensembl transcript: ENST00000543086
  gene symbol: ERC1
  hgvsc: ENST00000543086.3:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000465628
  ensembl transcript: ENST00000545318
  gene symbol: ERC1
  hgvsc: ENST00000545318.2:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000340054
  ensembl transcript: ENST00000347735
  gene symbol: ERC1
  hgvsc: ENST00000347735.6:c.-22C>A
  variant of: http://identifiers.org/hgnc/17072
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 1.75e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 8.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13042
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 22114
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 4980
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 1.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 9.75e1
  variant carriers: 1553
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 6.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 32
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

12-1137049-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1137049
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1137049
    reference: chr 12
allele count: 3
allele frequency: 2.741077791787731e-5
allele num: 109446
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000340054
  ensembl transcript: ENST00000347735
  gene symbol: ERC1
  hgvsc: ENST00000347735.6:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000347621
  ensembl transcript: ENST00000355446
  gene symbol: ERC1
  hgvsc: ENST00000355446.5:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000445336
  ensembl transcript: ENST00000542302
  gene symbol: ERC1
  hgvsc: ENST00000542302.2:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000464959
  ensembl transcript: ENST00000589132
  gene symbol: ERC1
  hgvsc: ENST00000589132.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000354158
  ensembl transcript: ENST00000360905
  gene symbol: ERC1
  hgvsc: ENST00000360905.4:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000410064
  ensembl transcript: ENST00000440394
  gene symbol: ERC1
  hgvsc: ENST00000440394.3:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442739
  ensembl transcript: ENST00000546231
  gene symbol: ERC1
  hgvsc: ENST00000546231.2:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000438546
  ensembl transcript: ENST00000543086
  gene symbol: ERC1
  hgvsc: ENST00000543086.3:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000468263
  ensembl transcript: ENST00000589028
  gene symbol: ERC1
  hgvsc: ENST00000589028.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442976
  ensembl transcript: ENST00000545948
  gene symbol: ERC1
  hgvsc: ENST00000545948.1:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000465628
  ensembl transcript: ENST00000545318
  gene symbol: ERC1
  hgvsc: ENST00000545318.2:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000380386
  ensembl transcript: ENST00000397203
  gene symbol: ERC1
  hgvsc: ENST00000397203.2:c.-21A>G
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000467476
  ensembl transcript: ENST00000592048
  gene symbol: ERC1
  hgvsc: ENST00000592048.1:c.-18-456A>G
  variant of: http://identifiers.org/hgnc/17072
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4985
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13541
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-1137050-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 1137050
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 1137050
    reference: chr 12
allele count: 2
allele frequency: 1.826851056833336e-5
allele num: 109478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000438546
  ensembl transcript: ENST00000543086
  gene symbol: ERC1
  hgvsc: ENST00000543086.3:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000347621
  ensembl transcript: ENST00000355446
  gene symbol: ERC1
  hgvsc: ENST00000355446.5:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000340054
  ensembl transcript: ENST00000347735
  gene symbol: ERC1
  hgvsc: ENST00000347735.6:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000464959
  ensembl transcript: ENST00000589132
  gene symbol: ERC1
  hgvsc: ENST00000589132.1:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442976
  ensembl transcript: ENST00000545948
  gene symbol: ERC1
  hgvsc: ENST00000545948.1:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000468263
  ensembl transcript: ENST00000589028
  gene symbol: ERC1
  hgvsc: ENST00000589028.1:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000465628
  ensembl transcript: ENST00000545318
  gene symbol: ERC1
  hgvsc: ENST00000545318.2:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000354158
  ensembl transcript: ENST00000360905
  gene symbol: ERC1
  hgvsc: ENST00000360905.4:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000445336
  ensembl transcript: ENST00000542302
  gene symbol: ERC1
  hgvsc: ENST00000542302.2:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000442739
  ensembl transcript: ENST00000546231
  gene symbol: ERC1
  hgvsc: ENST00000546231.2:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000410064
  ensembl transcript: ENST00000440394
  gene symbol: ERC1
  hgvsc: ENST00000440394.3:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000380386
  ensembl transcript: ENST00000397203
  gene symbol: ERC1
  hgvsc: ENST00000397203.2:c.-20C>A
  variant of: http://identifiers.org/hgnc/17072
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000082805
  ensembl protein: ENSP00000467476
  ensembl transcript: ENST00000592048
  gene symbol: ERC1
  hgvsc: ENST00000592048.1:c.-18-455C>A
  variant of: http://identifiers.org/hgnc/17072
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1153
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
reference allele: C

GenotypeDepth
all individuals: 2677
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5926
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5685
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6171
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5191
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6825
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4328
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 492
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6103
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 787
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1335
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1136
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3070
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8353
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 780
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36642
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1729
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1484
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2816
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66348
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.242197253433208e-5
allele num: 16020
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 8.337e0

DP
type: SiteQuality
SIO_000300: 2.823895e6

MQRankSum
type: SiteQuality
SIO_000300: -4.36e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.05e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeDepth
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2677
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 559
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6104
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 250
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6782
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4293
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5864
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6167
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5673
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6825
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1334
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 787
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1762
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5192
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8286
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 908
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36643
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2789
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3069
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2597
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1479
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1727
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2504
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66304
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.788e0

MQRankSum
type: SiteQuality
SIO_000300: 5.08e-1

MQ
type: SiteQuality
SIO_000300: 5.916e1

FS
type: SiteQuality
SIO_000300: 1.047e0

DP
type: SiteQuality
SIO_000300: 2.821802e6

QD
type: SiteQuality
SIO_000300: 1.193e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.47e-1

GenotypeDepth
all individuals: 6103
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 261
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6166
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6781
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6825
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4162
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 703
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1762
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 787
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 388
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2677
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 638
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5662
bin: 3.25e1
variant carriers: 0

GenotypeDepth
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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QD
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DP
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQ
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MQRankSum
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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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European (Finnish)
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East Asian
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African
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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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QD
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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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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Latino
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FS
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QD
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ClippingRankSum
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DP
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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European (Non-Finnish)
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African
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South Asian
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FS
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MQ
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African
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South Asian
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European (Finnish)
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Other
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European (Non-Finnish)
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QD
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DP
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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South Asian
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East Asian
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European (Non-Finnish)
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Other
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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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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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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European (Non-Finnish)
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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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BaseQRankSum
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VQSLOD
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MQRankSum
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MQ
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FS
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 3.52161303687336e-3
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num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Latino
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allele num: 11446
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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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FS
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DP
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele num: 10074
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East Asian
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South Asian
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Latino
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European (Finnish)
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Other
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European (Non-Finnish)
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ClippingRankSum
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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MQ
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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DP
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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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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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Other
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ReadPosRankSum
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MQRankSum
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VQSLOD
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DP
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MQ
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European (Finnish)
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VQSLOD
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MQ
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MQRankSum
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African
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DP
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MQ
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VQSLOD
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FS
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African
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European (Non-Finnish)
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DP
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MQ
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African
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European (Non-Finnish)
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MQ
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GenotypeQuality
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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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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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DP
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QD
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ClippingRankSum
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VQSLOD
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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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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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MQ
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FS
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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African
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Latino
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European (Finnish)
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South Asian
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DP
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QD
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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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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African
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European (Non-Finnish)
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East Asian
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Latino
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European (Finnish)
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

DP
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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MQRankSum
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SIO_000300: 7.25e-1

FS
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SIO_000300: 1.4294e1

QD
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SIO_000300: 1.193e1

GenotypeDepth
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variant carriers: 0

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

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

Other
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Latino
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allele frequency: 1.727414061150458e-4
allele num: 11578
num of homozygotes: 0

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

MQ
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QD
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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SIO_000300: 4.90752e6

MQRankSum
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SIO_000300: 1.91e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 8

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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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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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

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

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

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

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

Other
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allele count: 0
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num of homozygotes: 0

South Asian
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allele count: 9
allele frequency: 5.450581395348837e-4
allele num: 16512
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.281e0

VQSLOD
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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SIO_000300: 5.44e-1

DP
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SIO_000300: 4.90752e6

GenotypeDepth
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variant carriers: 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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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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allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

Other
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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East Asian
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FS
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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VQSLOD
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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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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

Other
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num of homozygotes: 0

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

South Asian
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African
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European (Non-Finnish)
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East Asian
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MQ
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ReadPosRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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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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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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South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQ
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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FS
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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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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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African
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Latino
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Other
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European (Finnish)
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South Asian
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East Asian
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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European (Non-Finnish)
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South Asian
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African
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InbreedingCoeff
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MQ
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VQSLOD
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DP
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FS
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MQRankSum
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ClippingRankSum
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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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European (Non-Finnish)
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East Asian
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Other
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South Asian
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European (Finnish)
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Latino
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African
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InbreedingCoeff
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VQSLOD
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MQ
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MQRankSum
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FS
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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Other
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European (Finnish)
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Latino
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African
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East Asian
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South Asian
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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MQ
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MQRankSum
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QD
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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QD
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MQ
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InbreedingCoeff
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MQRankSum
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FS
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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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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East Asian
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Latino
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European (Finnish)
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African
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South Asian
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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ClippingRankSum
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MQRankSum
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DP
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MQ
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GenotypeDepth
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East Asian
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African
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Other
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Latino
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European (Finnish)
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European (Non-Finnish)
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FS
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ClippingRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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East Asian
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Latino
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European (Non-Finnish)
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African
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South Asian
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DP
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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QD
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MQRankSum
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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DP
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MQRankSum
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VQSLOD
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FS
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GenotypeQuality
all individuals: 2626
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.103515625e-5
allele num: 16384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8350
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9980
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.79e-1

MQ
type: SiteQuality
SIO_000300: 6.026e1

MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.178e1

VQSLOD
type: SiteQuality
SIO_000300: 6.08e-1

FS
type: SiteQuality
SIO_000300: 2.979e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 4.80142e6

GenotypeDepth
all individuals: 3523
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 114
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 3517
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variant carriers: 2

GenotypeDepth
all individuals: 2785
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 4

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

GenotypeQuality
all individuals: 2218
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GenotypeQuality
all individuals: 1002
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.094570928196147e-4
allele num: 63952
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7868
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.180469715698394e-5
allele num: 16180
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.41e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.18e-1

DP
type: SiteQuality
SIO_000300: 4.78382e6

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeDepth
all individuals: 1897
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 116
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variant carriers: 0

GenotypeDepth
all individuals: 369
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variant carriers: 0

GenotypeDepth
all individuals: 1918
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variant carriers: 1

GenotypeDepth
all individuals: 2001
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variant carriers: 0

GenotypeDepth
all individuals: 1306
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2392
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variant carriers: 0

GenotypeDepth
all individuals: 3628
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GenotypeDepth
all individuals: 3337
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GenotypeDepth
all individuals: 717
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variant carriers: 0

GenotypeDepth
all individuals: 3520
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variant carriers: 1

GenotypeQuality
all individuals: 899
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GenotypeQuality
all individuals: 2391
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variant carriers: 0

GenotypeQuality
all individuals: 1309
bin: 7.5e0
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GenotypeQuality
all individuals: 486
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GenotypeQuality
all individuals: 899
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variant carriers: 0

GenotypeQuality
all individuals: 423
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GenotypeQuality
all individuals: 468
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GenotypeQuality
all individuals: 2537
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 606
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 33367
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variant carriers: 8

GenotypeQuality
all individuals: 1550
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variant carriers: 0

GenotypeQuality
all individuals: 1741
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.217358865953743e-5
allele num: 16084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10770
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7398
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6298
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.123775886980254e-4
allele num: 62290
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.178e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.972e1

QD
type: SiteQuality
SIO_000300: 1.134e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 4.779382e6

GenotypeDepth
all individuals: 1287
bin: 1.75e1
variant carriers: 82

GenotypeDepth
all individuals: 3475
bin: 8.25e1
variant carriers: 52

GenotypeDepth
all individuals: 1278
bin: 2.25e1
variant carriers: 156

GenotypeDepth
all individuals: 1966
bin: 2.75e1
variant carriers: 286

GenotypeDepth
all individuals: 2782
bin: 4.25e1
variant carriers: 254

GenotypeDepth
all individuals: 3725
bin: 5.25e1
variant carriers: 151

GenotypeDepth
all individuals: 4516
bin: 6.75e1
variant carriers: 94

GenotypeDepth
all individuals: 9865
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variant carriers: 43

GenotypeDepth
all individuals: 1008
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variant carriers: 28

GenotypeDepth
all individuals: 2205
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variant carriers: 287

GenotypeDepth
all individuals: 2331
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variant carriers: 13

GenotypeQuality
all individuals: 33537
bin: 9.75e1
variant carriers: 172

GenotypeQuality
all individuals: 924
bin: 5.75e1
variant carriers: 80

GenotypeQuality
all individuals: 1041
bin: 5.25e1
variant carriers: 95

GenotypeQuality
all individuals: 1205
bin: 1.25e1
variant carriers: 165

GenotypeQuality
all individuals: 1685
bin: 2.25e1
variant carriers: 189

GenotypeQuality
all individuals: 1371
bin: 7.5e0
variant carriers: 225

GenotypeQuality
all individuals: 1368
bin: 3.25e1
variant carriers: 155

GenotypeQuality
all individuals: 1103
bin: 4.75e1
variant carriers: 119

GenotypeQuality
all individuals: 1180
bin: 7.75e1
variant carriers: 47

GenotypeQuality
all individuals: 1247
bin: 3.75e1
variant carriers: 143

GenotypeQuality
all individuals: 1339
bin: 6.75e1
variant carriers: 58

GenotypeQuality
all individuals: 918
bin: 9.25e1
variant carriers: 23

GenotypeQuality
all individuals: 1205
bin: 4.25e1
variant carriers: 122

GenotypeQuality
all individuals: 1113
bin: 7.25e1
variant carriers: 56

GenotypeQuality
all individuals: 1380
bin: 2.75e1
variant carriers: 175

GenotypeQuality
all individuals: 5123
bin: 2.5e0
variant carriers: 161

GenotypeQuality
all individuals: 1070
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variant carriers: 25

GenotypeQuality
all individuals: 1763
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variant carriers: 75

GenotypeQuality
all individuals: 1173
bin: 1.75e1
variant carriers: 205

GenotypeQuality
all individuals: 923
bin: 8.75e1
variant carriers: 24

European (Non-Finnish)
type: Population
allele count: 529
allele frequency: 9.255695139447807e-3
allele num: 57154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.88793671720501e-4
allele num: 6068
num of homozygotes: 0

South Asian
type: Population
allele count: 755
allele frequency: 5.974992086103197e-2
allele num: 12636
num of homozygotes: 0

African
type: Population
allele count: 110
allele frequency: 1.234013910702266e-2
allele num: 8914
num of homozygotes: 0

Latino
type: Population
allele count: 92
allele frequency: 9.283551967709384e-3
allele num: 9910
num of homozygotes: 0

East Asian
type: Population
allele count: 50
allele frequency: 6.605019815059445e-3
allele num: 7570
num of homozygotes: 0

Other
type: Population
allele count: 11
allele frequency: 1.455026455026455e-2
allele num: 756
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 4.109607e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e0

QD
type: SiteQuality
SIO_000300: 1.285e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

GenotypeDepth
all individuals: 4516
bin: 6.75e1
variant carriers: 2104

GenotypeDepth
all individuals: 2540
bin: 3.75e1
variant carriers: 1050

GenotypeDepth
all individuals: 2782
bin: 4.25e1
variant carriers: 1182

GenotypeDepth
all individuals: 2205
bin: 3.25e1
variant carriers: 839

GenotypeDepth
all individuals: 3725
bin: 5.25e1
variant carriers: 1770

GenotypeDepth
all individuals: 4051
bin: 5.75e1
variant carriers: 1959

GenotypeDepth
all individuals: 3165
bin: 4.75e1
variant carriers: 1436

GenotypeDepth
all individuals: 3475
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variant carriers: 1511

GenotypeDepth
all individuals: 4368
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variant carriers: 2033

GenotypeDepth
all individuals: 9865
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variant carriers: 3396

GenotypeDepth
all individuals: 3972
bin: 7.75e1
variant carriers: 1796

GenotypeQuality
all individuals: 5123
bin: 2.5e0
variant carriers: 49

GenotypeQuality
all individuals: 1247
bin: 3.75e1
variant carriers: 80

GenotypeQuality
all individuals: 1763
bin: 6.25e1
variant carriers: 109

GenotypeQuality
all individuals: 1368
bin: 3.25e1
variant carriers: 88

GenotypeQuality
all individuals: 1371
bin: 7.5e0
variant carriers: 56

GenotypeQuality
all individuals: 1113
bin: 7.25e1
variant carriers: 102

GenotypeQuality
all individuals: 1685
bin: 2.25e1
variant carriers: 72

GenotypeQuality
all individuals: 1205
bin: 4.25e1
variant carriers: 93

GenotypeQuality
all individuals: 1103
bin: 4.75e1
variant carriers: 86

GenotypeQuality
all individuals: 923
bin: 8.75e1
variant carriers: 142

GenotypeQuality
all individuals: 918
bin: 9.25e1
variant carriers: 110

GenotypeQuality
all individuals: 1041
bin: 5.25e1
variant carriers: 89

GenotypeQuality
all individuals: 1380
bin: 2.75e1
variant carriers: 57

GenotypeQuality
all individuals: 1173
bin: 1.75e1
variant carriers: 65

GenotypeQuality
all individuals: 1205
bin: 1.25e1
variant carriers: 71

GenotypeQuality
all individuals: 33537
bin: 9.75e1
variant carriers: 24760

GenotypeQuality
all individuals: 1070
bin: 8.25e1
variant carriers: 123

GenotypeQuality
all individuals: 1180
bin: 7.75e1
variant carriers: 107

GenotypeQuality
all individuals: 924
bin: 5.75e1
variant carriers: 79

GenotypeQuality
all individuals: 1339
bin: 6.75e1
variant carriers: 103

African
type: Population
allele count: 2990
allele frequency: 3.354274175454341e-1
allele num: 8914
num of homozygotes: 426

South Asian
type: Population
allele count: 2247
allele frequency: 1.778252611585945e-1
allele num: 12636
num of homozygotes: 167

European (Finnish)
type: Population
allele count: 1591
allele frequency: 2.621951219512195e-1
allele num: 6068
num of homozygotes: 199

Other
type: Population
allele count: 201
allele frequency: 2.658730158730159e-1
allele num: 756
num of homozygotes: 16

East Asian
type: Population
allele count: 3049
allele frequency: 4.02774108322325e-1
allele num: 7570
num of homozygotes: 552

Latino
type: Population
allele count: 3166
allele frequency: 3.194752774974773e-1
allele num: 9910
num of homozygotes: 431

European (Non-Finnish)
type: Population
allele count: 16602
allele frequency: 2.904783567204395e-1
allele num: 57154
num of homozygotes: 2042

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

DP
type: SiteQuality
SIO_000300: 4.109607e6

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e0

QD
type: SiteQuality
SIO_000300: 1.285e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

MQ
type: SiteQuality
SIO_000300: 5.976e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.121830827911151e-4
allele num: 8914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.88e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.56e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 4.109607e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.7e0

QD
type: SiteQuality
SIO_000300: 1.285e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 2201
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 2097
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variant carriers: 0

GenotypeDepth
all individuals: 1530
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GenotypeDepth
all individuals: 2070
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GenotypeDepth
all individuals: 858
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GenotypeDepth
all individuals: 1733
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GenotypeDepth
all individuals: 1840
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variant carriers: 0

GenotypeDepth
all individuals: 1574
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GenotypeDepth
all individuals: 1620
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GenotypeQuality
all individuals: 764
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GenotypeQuality
all individuals: 762
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variant carriers: 0

GenotypeQuality
all individuals: 6814
bin: 2.5e0
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GenotypeQuality
all individuals: 1626
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 389
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GenotypeQuality
all individuals: 1035
bin: 2.75e1
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GenotypeQuality
all individuals: 930
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
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GenotypeQuality
all individuals: 708
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
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GenotypeQuality
all individuals: 746
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GenotypeQuality
all individuals: 558
bin: 1.75e1
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GenotypeQuality
all individuals: 970
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GenotypeQuality
all individuals: 700
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GenotypeQuality
all individuals: 8665
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GenotypeQuality
all individuals: 1241
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GenotypeQuality
all individuals: 926
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variant carriers: 0

GenotypeQuality
all individuals: 536
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GenotypeQuality
all individuals: 864
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2280
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3170
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 8.01538954793203e-5
allele num: 24952
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 7.97e0

VQSLOD
type: SiteQuality
SIO_000300: -1.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.157848e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.337e0

GenotypeDepth
all individuals: 3694
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 361
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.509340322310824e-4
allele num: 35866
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 3.033980582524272e-4
allele num: 3296
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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FS
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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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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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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

South Asian
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allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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SIO_000300: 1.4e0

MQ
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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FS
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DP
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QD
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ClippingRankSum
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SIO_000300: -2.332e0

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

Latino
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allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

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

South Asian
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allele num: 16440
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.559409100580564e-5
allele num: 65798
num of homozygotes: 0

African
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allele count: 0
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East Asian
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allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.926e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

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

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

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

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

East Asian
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allele num: 8362
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DP
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QD
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MQRankSum
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SIO_000300: 8.28e-1

InbreedingCoeff
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MQ
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SIO_000300: 5.924e1

ReadPosRankSum
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BaseQRankSum
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FS
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VQSLOD
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SIO_000300: 3.78e-1

ClippingRankSum
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SIO_000300: 6.74e-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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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Other
type: Population
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African
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East Asian
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11436
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -5.32e-1

MQ
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QD
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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DP
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FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -2.051e0

GenotypeDepth
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variant carriers: 30

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: 10

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.754828640176887e-5
allele num: 61508
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.387504387504388e-4
allele num: 11396
num of homozygotes: 0

European (Finnish)
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allele count: 0
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South Asian
type: Population
allele count: 374
allele frequency: 3.843782117163412e-2
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Other
type: Population
allele count: 5
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East Asian
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.266e1

GenotypeDepth
all individuals: 1679
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 809
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5229
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1771
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 391
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 910
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2975
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7295
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 27273
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.751969193068441e-5
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.86050354816759e-5
allele num: 61722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9894
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9206
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.66e-1

DP
type: SiteQuality
SIO_000300: 1.913307e6

MQ
type: SiteQuality
SIO_000300: 5.937e1

QD
type: SiteQuality
SIO_000300: 1.4e1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

GenotypeDepth
all individuals: 5782
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 442
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1382
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 294
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27924
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4591
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2439
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7302
bin: 9.75e1
variant carriers: 21

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2907
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8622
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62018
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8446
num of homozygotes: 0

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

South Asian
type: Population
allele count: 19
allele frequency: 1.87007874015748e-3
allele num: 10160
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.33e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.926787e6

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 2.166e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

GenotypeDepth
all individuals: 5925
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 812
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 869
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2912
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4791
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7282
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8637
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 697
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9314
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.609165808444902e-5
allele num: 62144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.501e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.81e-1

QD
type: SiteQuality
SIO_000300: 1.162e1

DP
type: SiteQuality
SIO_000300: 1.929241e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

GenotypeDepth
all individuals: 3447
bin: 3.75e1
variant carriers: 7

GenotypeDepth
all individuals: 341
bin: 7.25e1
variant carriers: 8

GenotypeDepth
all individuals: 266
bin: 9.25e1
variant carriers: 28

GenotypeDepth
all individuals: 5954
bin: 2.25e1
variant carriers: 30

GenotypeQuality
all individuals: 642
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1653
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2907
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 268
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 266
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 122
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 8634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 608
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 890
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 7486
bin: 9.75e1
variant carriers: 1873

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 28082
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 669
bin: 3.25e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 1599
allele frequency: 2.568097134780933e-2
allele num: 62264
num of homozygotes: 27

African
type: Population
allele count: 60
allele frequency: 6.433626420759168e-3
allele num: 9326
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 1.01010101010101e-2
allele num: 792
num of homozygotes: 0

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

Latino
type: Population
allele count: 63
allele frequency: 5.505068157986718e-3
allele num: 11444
num of homozygotes: 0

South Asian
type: Population
allele count: 52
allele frequency: 4.997117047857005e-3
allele num: 10406
num of homozygotes: 3

European (Finnish)
type: Population
allele count: 137
allele frequency: 2.075128748863981e-2
allele num: 6602
num of homozygotes: 2

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.05e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.354e0

QD
type: SiteQuality
SIO_000300: 1.457e1

VQSLOD
type: SiteQuality
SIO_000300: 5.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.026012e6

GenotypeDepth
all individuals: 1155
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 393
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 373
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28968
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 708
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5777
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 669
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.360717658168083e-4
allele num: 8472
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.604930346022983e-5
allele num: 62308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.15e0

FS
type: SiteQuality
SIO_000300: 2.784e0

QD
type: SiteQuality
SIO_000300: 1.334e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.37e0

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.840326e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeDepth
all individuals: 798
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4949
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 475
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3027
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29058
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 302
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2519
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4643
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 818
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8953
bin: 6.75e1
variant carriers: 0