3-37048554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048554
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048554
    reference: chr 3
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159G>A
  hgvsp: ENST00000435176.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453G>A
  hgvsp: ENST00000231790.2:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159G>A
  hgvsp: ENST00000429117.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428G>A
  hgvsp: ENST00000456676.2:c.428G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&likely_pathogenic
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.453G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

3-37048565-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048565
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048565
    reference: chr 3
allele count: 1
allele frequency: 8.263097008758882e-6
allele num: 121020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+11T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+11T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum

3-37048568-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048568
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048568
    reference: chr 3
allele count: 1
allele frequency: 8.264462809917356e-6
allele num: 121000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+14A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+14A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17433
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13098
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

3-37048574-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048574
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048574
    reference: chr 3
allele count: 5
allele frequency: 4.13517045172602e-5
allele num: 120914
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+20G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+20G>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12732
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4632
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-37048579-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048579
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048579
    reference: chr 3
allele count: 1
allele frequency: 8.275816409288777e-6
allele num: 120834
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+25A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+25A>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-37048579-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048579
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048579
    reference: chr 3
allele count: 666
allele frequency: 5.511693728586325e-3
allele num: 120834
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+25A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+25A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4616
  bin: 3.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 6.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 11479
  bin: 3.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
num of homozygotes: 9
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD

3-37048583-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048583
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048583
    reference: chr 3
allele count: 1
allele frequency: 8.282122210995345e-6
allele num: 120742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+29G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+29G>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

3-37048589-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048589
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048589
    reference: chr 3
allele count: 1
allele frequency: 8.294074713025015e-6
allele num: 120568
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+35G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+35G>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

3-37048594-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048594
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048593
    reference: chr 3
allele count: 1
allele frequency: 8.315178526882972e-6
allele num: 120262
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+43delT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+43delT
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4537
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: GT
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

3-37048599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048599
    reference: chr 3
allele count: 1
allele frequency: 8.345294922722569e-6
allele num: 119828
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+45T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+45T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12317
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4412
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2095
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS

3-37048604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37048604
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37048604
    reference: chr 3
allele count: 1
allele frequency: 8.426587569098018e-6
allele num: 118672
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-271+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*533+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.453+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*326+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.457+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.476+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-271+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.159+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.159+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.486+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*232+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.428+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*245+50A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-271+50A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

3-37050254-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050254
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050254
    reference: chr 3
allele count: 2940
allele frequency: 2.475747776879547e-2
allele num: 118752
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1700T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1700T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534-51T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270-51T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 1.25e1
  variant carriers: 170
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 4.25e1
  variant carriers: 188
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 6503
  bin: 1.75e1
  variant carriers: 299
genotype depth: GenotypeDepth
  all individuals: 8731
  bin: 3.25e1
  variant carriers: 464
genotype quality: GenotypeQuality
num of homozygotes: 55
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-37050259-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050259
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050259
    reference: chr 3
allele count: 1
allele frequency: 8.409297319116015e-6
allele num: 118916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1705T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1705T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160-46T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327-46T>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-37050281-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050281
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050281
    reference: chr 3
allele count: 2
allele frequency: 1.669783596045953e-5
allele num: 119776
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1727A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1727A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270-24A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233-24A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15946
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

3-37050282-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050282
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050282
    reference: chr 3
allele count: 1
allele frequency: 8.344459279038718e-6
allele num: 119840
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1728A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1728A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270-23A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327-23A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

3-37050283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050283
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050283
    reference: chr 3
allele count: 1
allele frequency: 8.339588024351597e-6
allele num: 119910
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1729G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1729G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233-22G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160-22G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-37050290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050290
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050290
    reference: chr 3
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1736C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487-15C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1736C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327-15C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9778
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 943
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

3-37050299-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050299
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050299
    reference: chr 3
allele count: 4
allele frequency: 3.313397723695764e-5
allele num: 120722
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1745G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270-6G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1745G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160-6G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.454-6G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-37050305-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050305
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050305
    reference: chr 3
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.160G>A
  hgvsp: ENSP00000402564.1:p.Val54Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.429G>A
  hgvsp: ENSP00000416687.2:p.Val144Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.454G>A
  hgvsp: ENSP00000231790.2:p.Val152Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*233G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-270G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-270G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-270G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*534G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.458G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.160G>A
  hgvsp: ENSP00000407019.1:p.Val54Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*327G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1751G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.477G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.487G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1751G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*246G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9863
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val152Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

3-37050309-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050309
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050309
    reference: chr 3
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.164A>G
  hgvsp: ENSP00000407019.1:p.Glu55Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.462A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*538A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-266A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.164A>G
  hgvsp: ENSP00000402564.1:p.Glu55Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1755A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*331A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*250A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.458A>G
  hgvsp: ENSP00000231790.2:p.Glu153Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-266A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.433A>G
  hgvsp: ENSP00000416687.2:p.Glu145Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.491A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.481A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*237A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-266A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1755A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16658
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu153Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-37050313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050313
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050313
    reference: chr 3
allele count: 3
allele frequency: 2.478560452089426e-5
allele num: 121038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.466C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.462C>T
  hgvsp: ENST00000231790.2:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.495C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-262C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-262C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.485C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1759C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.437C>T
  hgvsp: ENST00000456676.2:c.437C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.168C>T
  hgvsp: ENST00000435176.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*254C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-262C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1759C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*335C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.168C>T
  hgvsp: ENST00000429117.1:c.168C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*241C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*542C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp154Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/3-37050314-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050314
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050314
    reference: chr 3
allele count: 1
allele frequency: 8.260093834665961e-6
allele num: 121064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*242C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*336C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-261C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1760C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.438C>A
  hgvsp: ENSP00000416687.2:p.Leu147Ile
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-261C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-261C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.463C>A
  hgvsp: ENSP00000231790.2:p.Leu155Ile
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*543C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.169C>A
  hgvsp: ENSP00000402564.1:p.Leu57Ile
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.486C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*255C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.496C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.467C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1760C>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.169C>A
  hgvsp: ENSP00000407019.1:p.Leu57Ile
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu155Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

3-37050325-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050325
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050325
    reference: chr 3
allele count: 419
allele frequency: 3.457209808904585e-3
allele num: 121196
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.449C>T
  hgvsp: ENST00000456676.2:c.449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.478C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*266C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-250C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1771C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.474C>T
  hgvsp: ENST00000231790.2:c.474C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.180C>T
  hgvsp: ENST00000435176.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-250C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*554C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.180C>T
  hgvsp: ENST00000429117.1:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*253C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.507C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.497C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*347C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-250C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1771C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9886
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 16540
  bin: 2.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Asn158Asn
num of homozygotes: 9
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

3-37050327-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050327
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050327
    reference: chr 3
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.182T>C
  hgvsp: ENSP00000407019.1:p.Ile61Thr
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1773T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.476T>C
  hgvsp: ENSP00000231790.2:p.Ile159Thr
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.499T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.182T>C
  hgvsp: ENSP00000402564.1:p.Ile61Thr
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-248T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1773T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.451T>C
  hgvsp: ENSP00000416687.2:p.Ile151Thr
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*255T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-248T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*349T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*268T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-248T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.509T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*556T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.480T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile159Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

3-37050330-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050330
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050330
    reference: chr 3
allele count: 17
allele frequency: 1.402108110783036e-4
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*258C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*352C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*271C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.483C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1776C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-245C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-245C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.185C>T
  hgvsp: ENSP00000407019.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.479C>T
  hgvsp: ENSP00000231790.2:p.Ala160Val
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.454C>T
  hgvsp: ENSP00000416687.2:p.Ala152Val
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1776C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*559C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.185C>T
  hgvsp: ENSP00000402564.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.512C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.502C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-245C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3816
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala160Val
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum

3-37050333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050333
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050333
    reference: chr 3
allele count: 3
allele frequency: 2.473777953690877e-5
allele num: 121272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*562C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-242C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.188C>T
  hgvsp: ENSP00000402564.1:p.Thr63Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.482C>T
  hgvsp: ENSP00000231790.2:p.Thr161Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.188C>T
  hgvsp: ENSP00000407019.1:p.Thr63Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-242C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*274C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.486C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-242C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.515C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.457C>T
  hgvsp: ENSP00000416687.2:p.Thr153Met
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*261C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1779C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1779C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.505C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11674
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16567
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr161Met
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

3-37050334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050334
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050334
    reference: chr 3
allele count: 1
allele frequency: 8.245110649384915e-6
allele num: 121284
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*275G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*262G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.189G>A
  hgvsp: ENST00000429117.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1780G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.516G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*356G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*563G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1780G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-241G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.506G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.483G>A
  hgvsp: ENST00000231790.2:c.483G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-241G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.458G>A
  hgvsp: ENST00000456676.2:c.458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-241G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.189G>A
  hgvsp: ENST00000435176.1:c.189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.487G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr161Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/3-37050338-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050338
    reference: chr 3
allele count: 14
allele frequency: 1.154125173118776e-4
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.193A>C
  hgvsp: ENST00000429117.1:c.193A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.193A>C
  hgvsp: ENST00000435176.1:c.193A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-237A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-237A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.510A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.487A>C
  hgvsp: ENST00000231790.2:c.487A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*360A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.462A>C
  hgvsp: ENST00000456676.2:c.462A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*266A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1784A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*567A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.520A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-237A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*279A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1784A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.491A>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6231
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg163Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-37050343-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050343
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050343
    reference: chr 3
allele count: 2
allele frequency: 1.648478454386601e-5
allele num: 121324
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1789A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.525A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1789A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-232A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*572A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.515A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.492A>C
  hgvsp: ENSP00000231790.2:p.Lys164Asn
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.198A>C
  hgvsp: ENSP00000402564.1:p.Lys66Asn
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.198A>C
  hgvsp: ENSP00000407019.1:p.Lys66Asn
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*365A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*271A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.496A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-232A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.467A>C
  hgvsp: ENSP00000416687.2:p.Lys156Asn
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-232A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*284A>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1725
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys164Asn
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

3-37050367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050367
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050367
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.539A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1813A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*389A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-208A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.491A>G
  hgvsp: ENST00000456676.2:c.491A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.222A>G
  hgvsp: ENST00000435176.1:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.516A>G
  hgvsp: ENST00000231790.2:c.516A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-208A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.222A>G
  hgvsp: ENST00000429117.1:c.222A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*295A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000466900
  gene symbol: MLH1
  hgvsc: ENST00000466900.1:n.549A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1813A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*308A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-208A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*596A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.520A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu172Glu
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-37050381-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050381
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050381
    reference: chr 3
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1827T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*610T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.505T>C
  hgvsp: ENSP00000416687.2:p.Leu169Ser
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.236T>C
  hgvsp: ENSP00000402564.1:p.Leu79Ser
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*309T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*322T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-194T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.236T>C
  hgvsp: ENSP00000407019.1:p.Leu79Ser
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1827T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-194T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.530T>C
  hgvsp: ENSP00000231790.2:p.Leu177Ser
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*403T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.534T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.553T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-194T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu177Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

3-37050386-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050386
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050386
    reference: chr 3
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-189G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*408G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*615G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*327G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.241G>T
  hgvsp: ENSP00000407019.1:p.Val81Phe
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1832G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-189G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.539G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.241G>T
  hgvsp: ENSP00000402564.1:p.Val81Phe
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*314G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1832G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.510G>T
  hgvsp: ENSP00000416687.2:p.Val171Phe
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-189G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.535G>T
  hgvsp: ENSP00000231790.2:p.Val179Phe
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.558G>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11712
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val179Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

3-37050390-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050390
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050390
    reference: chr 3
allele count: 4
allele frequency: 3.295815961636702e-5
allele num: 121366
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.514T>G
  hgvsp: ENSP00000416687.2:p.Val172Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.539T>G
  hgvsp: ENSP00000231790.2:p.Val180Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.562T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-185T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1836T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.245T>G
  hgvsp: ENSP00000402564.1:p.Val82Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1836T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*331T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.543T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407019
  ensembl transcript: ENST00000429117
  gene symbol: MLH1
  hgvsc: ENST00000429117.1:c.245T>G
  hgvsp: ENSP00000407019.1:p.Val82Gly
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*619T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-185T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*412T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*318T>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-185T>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val180Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

3-37050400-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050400
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050400
    reference: chr 3
allele count: 4
allele frequency: 3.296359171295305e-5
allele num: 121346
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1846C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+4C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1846C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.545+4C>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/3-37050406-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050406
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050406
    reference: chr 3
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1852A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1852A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+10A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+10A>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-37050415-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050415
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050415
    reference: chr 3
allele count: 4
allele frequency: 3.296685183048445e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1861G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1861G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+19G>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+19G>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

3-37050416-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050416
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050416
    reference: chr 3
allele count: 168
allele frequency: 1.384630600336267e-3
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1862A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1862A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+20A>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance&benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+20A>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9907
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 9.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6229
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16337
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
num of homozygotes: 1
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

3-37050418-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050418
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050418
    reference: chr 3
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1864T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1864T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+22T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+22T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

3-37050419-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050419
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050419
    reference: chr 3
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1865G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+23G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1865G>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

3-37050421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050421
    reference: chr 3
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1867G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1867G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+25G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+25G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

3-37050421-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050421
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050419
    reference: chr 3
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+29_-179+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+29_-179+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+29_*418+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+29_251+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+29_549+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1871_-179+1872delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+29_520+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1871_-179+1872delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+29_*337+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+29_*625+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+29_545+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+29_568+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+29_*324+30delCT
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+29_-179+30delCT
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1746
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16289
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: GTC
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD

3-37050424-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050424
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050424
    reference: chr 3
allele count: 6
allele frequency: 4.94641384995878e-5
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1870T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1870T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+28T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+28T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6235
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-37050427-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050427
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050427
    reference: chr 3
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1873G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1873G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+31G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+31G>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2307
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16224
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

3-37050431-T-TAGTGAATCCAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050431
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050442
    reference: chr 3
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: TAGTGAATCCAA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

3-37050434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050434
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050434
    reference: chr 3
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1880G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1880G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+38G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+38G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11666
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16107
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

3-37050435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050435
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050435
    reference: chr 3
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1881T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1881T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+39T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+39T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16105
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

3-37050436-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050436
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050436
    reference: chr 3
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1882C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1882C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+40C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+40C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-37050437-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050437
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050437
    reference: chr 3
allele count: 1
allele frequency: 8.244974687927709e-6
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1883A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+41A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1883A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+41A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2312
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

3-37050439-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050439
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050439
    reference: chr 3
allele count: 16
allele frequency: 1.319261213720317e-4
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1885C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1885C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+43C>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+43C>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6247
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

3-37050441-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050441
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050441
    reference: chr 3
allele count: 2
allele frequency: 1.649049323065253e-5
allele num: 121282
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1887A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1887A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+45A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+45A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6254
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3827
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

3-37050443-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37050443
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37050443
    reference: chr 3
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-179+1889G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.545+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.568+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.549+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*324+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*625+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.520+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*418+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-179+1889G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-179+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-179+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.251+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-179+47G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*337+47G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11671
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16026
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3834
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1064
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

3-37053260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053260
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053260
    reference: chr 3
allele count: 2
allele frequency: 1.65144584083365e-5
allele num: 121106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-178-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.521-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*325-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-178-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-178-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*419-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.569-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*626-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*338-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.546-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-178-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.550-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.252-51A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-178-51A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38924
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP

3-37053263-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053263
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053263
    reference: chr 3
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.550-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*626-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*338-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.252-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*419-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-178-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-178-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*325-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.569-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.546-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-178-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.521-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-178-48G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-178-48G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

3-37053271-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053271
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053271
    reference: chr 3
allele count: 56
allele frequency: 4.623055839910181e-4
allele num: 121132
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-178-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-178-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-178-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*325-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*419-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.521-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-178-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.546-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.550-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-178-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*626-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.252-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*338-40T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.569-40T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2696
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

http://identifiers.org/exac.variant/3-37053277-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053277
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053277
    reference: chr 3
allele count: 1
allele frequency: 8.254775387561705e-6
allele num: 121142
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-178-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.546-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-178-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.550-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*325-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-178-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.521-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-178-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.569-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*626-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-178-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.252-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*338-34A>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*419-34A>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-37053308-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053308
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053308
    reference: chr 3
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*626-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.546-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-178-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-178-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-178-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.550-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.252-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*325-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.569-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.521-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*338-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-178-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-178-3C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*419-3C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.546-3C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-37053323-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053323
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053323
    reference: chr 3
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.264C>T
  hgvsp: ENST00000435176.1:c.264C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-166C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-166C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.558C>T
  hgvsp: ENST00000231790.2:c.558C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000485889
  gene symbol: MLH1
  hgvsc: ENST00000485889.1:n.562C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.533C>T
  hgvsp: ENST00000456676.2:c.533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-166C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-166C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*638C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*431C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*337C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.581C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*350C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-166C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38929
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His186His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-37053328-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053328
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053328
    reference: chr 3
allele count: 3
allele frequency: 2.472595400972554e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*643C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.538C>T
  hgvsp: ENSP00000416687.2:p.Ala180Val
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-161C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-161C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000076242
  ensembl transcript: ENST00000492474
  gene symbol: MLH1
  hgvsc: ENST00000492474.1:n.586C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000392649
  ensembl transcript: ENST00000454028
  gene symbol: MLH1
  hgvsc: ENST00000454028.1:c.*436C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-161C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-161C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-161C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.563C>T
  hgvsp: ENSP00000231790.2:p.Ala188Val
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*342C>T
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.269C>T
  hgvsp: ENSP00000402564.1:p.Ala90Val
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*355C>T
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala188Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

3-37053338-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053338
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053338
    reference: chr 3
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-151T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*365T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-151T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*352T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-151T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-151T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*653T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.279T>C
  hgvsp: ENST00000435176.1:c.279T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.573T>C
  hgvsp: ENST00000231790.2:c.573T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-151T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.548T>C
  hgvsp: ENST00000456676.2:c.548T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38930
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser191Ser
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

3-37053356-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053356
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053356
    reference: chr 3
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-136+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-136+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-136+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*668+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.563+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*380+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*367+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.588+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.294+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-136+3A>G
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-136+3A>G
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38930
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.588+3A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

3-37053364-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053364
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053364
    reference: chr 3
allele count: 337
allele frequency: 2.77699952205943e-3
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-136+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-136+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*380+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-136+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.563+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*668+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*367+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-136+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.588+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-136+11G>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  clinical significance: not_provided&benign&likely_benign
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.294+11G>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38994
  bin: 9.75e1
  variant carriers: 305
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 4
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

3-37053377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053377
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053377
    reference: chr 3
allele count: 4
allele frequency: 3.29614186594591e-5
allele num: 121354
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.563+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-136+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*367+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-136+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*380+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*668+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.588+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.294+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-136+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-136+24T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-136+24T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38950
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

3-37053379-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053379
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053379
    reference: chr 3
allele count: 6
allele frequency: 4.944294284395807e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-136+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*367+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-136+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*668+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-136+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*380+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.563+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.588+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-136+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-136+26G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.294+26G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38954
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

3-37053384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053384
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053384
    reference: chr 3
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-136+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*380+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-136+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-136+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.588+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-136+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*367+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.294+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*668+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.563+31G>A
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-136+31G>A
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3154
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38952
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1527
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ReadPosRankSum

3-37053390-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 37053390
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 37053390
    reference: chr 3
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000443665
  ensembl transcript: ENST00000539477
  gene symbol: MLH1
  hgvsc: ENST00000539477.1:c.-136+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000407773
  ensembl transcript: ENST00000457004
  gene symbol: MLH1
  hgvsc: ENST00000457004.1:c.*367+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416687
  ensembl transcript: ENST00000456676
  gene symbol: MLH1
  hgvsc: ENST00000456676.2:c.563+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000387511
  ensembl transcript: ENST00000442249
  gene symbol: MLH1
  hgvsc: ENST00000442249.1:c.*380+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000231790
  ensembl transcript: ENST00000231790
  gene symbol: MLH1
  hgvsc: ENST00000231790.2:c.588+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402667
  ensembl transcript: ENST00000458205
  gene symbol: MLH1
  hgvsc: ENST00000458205.2:c.-136+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000444286
  ensembl transcript: ENST00000536378
  gene symbol: MLH1
  hgvsc: ENST00000536378.1:c.-136+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398272
  ensembl transcript: ENST00000455445
  gene symbol: MLH1
  hgvsc: ENST00000455445.2:c.-136+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000398392
  ensembl transcript: ENST00000441265
  gene symbol: MLH1
  hgvsc: ENST00000441265.1:c.-136+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000416783
  ensembl transcript: ENST00000432299
  gene symbol: MLH1
  hgvsc: ENST00000432299.1:c.*668+37T>C
  variant of: http://identifiers.org/hgnc/7127
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000076242
  ensembl protein: ENSP00000402564
  ensembl transcript: ENST00000435176
  gene symbol: MLH1
  hgvsc: ENST00000435176.1:c.294+37T>C
  variant of: http://identifiers.org/hgnc/7127
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2695
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 17483
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2881
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 708
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1294
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 729
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4625
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13516
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 949
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 775
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2129
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 744
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 734
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11560
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7690
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2123
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31290
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2366
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11619
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 850
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

DP
type: SiteQuality
SIO_000300: 2.298496e6

FS
type: SiteQuality
SIO_000300: 1.636e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.808e-1

MQ
type: SiteQuality
SIO_000300: 5.755e1

QD
type: SiteQuality
SIO_000300: 1.019e1

GenotypeDepth
all individuals: 734
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17476
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 709
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 774
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 377
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2880
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4628
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11542
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 744
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31132
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7640
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2354
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2124
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11619
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10248
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501185936890143e-5
allele num: 66614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 2.295636e6

VQSLOD
type: SiteQuality
SIO_000300: -7.094e-1

QD
type: SiteQuality
SIO_000300: 1.188e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.0904e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeDepth
all individuals: 11554
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 734
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 682
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 705
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2880
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4628
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 744
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 774
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7624
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11620
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 848
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1165
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2122
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2352
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.767532721234616e-5
allele num: 10238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

FS
type: SiteQuality
SIO_000300: 1.947e0

DP
type: SiteQuality
SIO_000300: 2.29356e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

QD
type: SiteQuality
SIO_000300: 1.602e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeDepth
all individuals: 11537
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 806
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

GenotypeDepth
all individuals: 1292
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variant carriers: 0

GenotypeDepth
all individuals: 729
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variant carriers: 0

GenotypeDepth
all individuals: 2882
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variant carriers: 2

GenotypeDepth
all individuals: 787
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 189
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GenotypeQuality
all individuals: 845
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820609297244811e-4
allele num: 16478
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.004988280545706e-5
allele num: 66556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8606
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.289684e6

VQSLOD
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
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SIO_000300: -3.418e0

QD
type: SiteQuality
SIO_000300: 1.179e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

FS
type: SiteQuality
SIO_000300: 7.032e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeDepth
all individuals: 549
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
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variant carriers: 0

GenotypeDepth
all individuals: 723
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variant carriers: 0

GenotypeDepth
all individuals: 252
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 725
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GenotypeDepth
all individuals: 992
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1187
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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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1133
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2065
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503578516870151e-5
allele num: 66508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.29e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

DP
type: SiteQuality
SIO_000300: 2.303225e6

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

QD
type: SiteQuality
SIO_000300: 1.506e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

GenotypeDepth
all individuals: 723
bin: 8.75e1
variant carriers: 4

GenotypeDepth
all individuals: 790
bin: 5.75e1
variant carriers: 33

GenotypeDepth
all individuals: 992
bin: 5.25e1
variant carriers: 57

GenotypeDepth
all individuals: 1282
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 774
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variant carriers: 5

GenotypeDepth
all individuals: 3010
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variant carriers: 177

GenotypeDepth
all individuals: 1333
bin: 4.75e1
variant carriers: 60

GenotypeDepth
all individuals: 252
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variant carriers: 1

GenotypeDepth
all individuals: 549
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variant carriers: 3

GenotypeDepth
all individuals: 17138
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variant carriers: 30

GenotypeDepth
all individuals: 12006
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variant carriers: 13

GenotypeDepth
all individuals: 2165
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variant carriers: 78

GenotypeDepth
all individuals: 672
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variant carriers: 2

GenotypeDepth
all individuals: 712
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variant carriers: 30

GenotypeDepth
all individuals: 739
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variant carriers: 17

GenotypeQuality
all individuals: 171
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variant carriers: 0

GenotypeQuality
all individuals: 11949
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variant carriers: 657

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 3
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 814
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variant carriers: 0

GenotypeQuality
all individuals: 2987
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 29
allele frequency: 2.836463223787168e-3
allele num: 10224
num of homozygotes: 0

South Asian
type: Population
allele count: 279
allele frequency: 1.693783389995143e-2
allele num: 16472
num of homozygotes: 8

East Asian
type: Population
allele count: 1
allele frequency: 1.162250116225012e-4
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 8
allele frequency: 8.830022075055188e-3
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.578053955744165e-4
allele num: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 313
allele frequency: 4.706200757803572e-3
allele num: 66508
num of homozygotes: 1

Latino
type: Population
allele count: 31
allele frequency: 2.690505120638778e-3
allele num: 11522
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.23e-1

FS
type: SiteQuality
SIO_000300: 7.77e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.94e0

DP
type: SiteQuality
SIO_000300: 2.303225e6

QD
type: SiteQuality
SIO_000300: 1.506e1

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

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 2076
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505026789476853e-5
allele num: 66444
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10222
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.278e1

BaseQRankSum
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SIO_000300: -3.239e0

FS
type: SiteQuality
SIO_000300: 3.273e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
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SIO_000300: -3.92e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.276355e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.47e-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
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 26128
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.24983e6

FS
type: SiteQuality
SIO_000300: 3.291e0

QD
type: SiteQuality
SIO_000300: 1.392e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 6.66e-1

GenotypeDepth
all individuals: 728
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variant carriers: 0

GenotypeDepth
all individuals: 761
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 685
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GenotypeQuality
all individuals: 1294
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GenotypeQuality
all individuals: 80
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GenotypeQuality
all individuals: 1999
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GenotypeQuality
all individuals: 11490
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variant carriers: 1

GenotypeQuality
all individuals: 1135
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GenotypeQuality
all individuals: 6691
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variant carriers: 0

GenotypeQuality
all individuals: 813
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GenotypeQuality
all individuals: 2878
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

Latino
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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
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.508523155830442e-5
allele num: 66290
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.998e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

DP
type: SiteQuality
SIO_000300: 2.218871e6

InbreedingCoeff
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SIO_000300: -3.0e-4

BaseQRankSum
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SIO_000300: -1.373e0

MQRankSum
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SIO_000300: -5.55e-1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.791e1

VQSLOD
type: SiteQuality
SIO_000300: 5.07e0

ClippingRankSum
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SIO_000300: -1.373e0

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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bin: 8.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11460
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.512630464377553e-5
allele num: 66110
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
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SIO_000300: 1.24e0

MQRankSum
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SIO_000300: 1.34e0

InbreedingCoeff
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SIO_000300: -8.0e-4

ClippingRankSum
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SIO_000300: 4.45e-1

DP
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SIO_000300: 2.186228e6

QD
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SIO_000300: 1.668e1

VQSLOD
type: SiteQuality
SIO_000300: -2.3e-2

BaseQRankSum
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SIO_000300: 4.87e0

FS
type: SiteQuality
SIO_000300: 3.085e0

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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bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.528864970645792e-5
allele num: 65408
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8280
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.47e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.426e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 2.163679e6

GenotypeDepth
all individuals: 191
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variant carriers: 2

GenotypeDepth
all individuals: 9161
bin: 2.25e1
variant carriers: 467

GenotypeDepth
all individuals: 1033
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variant carriers: 38

GenotypeDepth
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GenotypeDepth
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variant carriers: 50

GenotypeDepth
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variant carriers: 288

GenotypeDepth
all individuals: 1033
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variant carriers: 60

GenotypeDepth
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variant carriers: 459

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 75

GenotypeDepth
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GenotypeDepth
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variant carriers: 118

GenotypeDepth
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variant carriers: 31

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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variant carriers: 9

GenotypeQuality
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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: 2828

GenotypeQuality
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variant carriers: 8

GenotypeQuality
all individuals: 3071
bin: 9.25e1
variant carriers: 11

European (Finnish)
type: Population
allele count: 226
allele frequency: 3.439878234398782e-2
allele num: 6570
num of homozygotes: 2

Latino
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allele count: 161
allele frequency: 1.410301331464611e-2
allele num: 11416
num of homozygotes: 3

European (Non-Finnish)
type: Population
allele count: 1952
allele frequency: 2.98233820204119e-2
allele num: 65452
num of homozygotes: 30

African
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allele count: 421
allele frequency: 4.295918367346939e-2
allele num: 9800
num of homozygotes: 19

East Asian
type: Population
allele count: 1
allele frequency: 1.214771622934888e-4
allele num: 8232
num of homozygotes: 0

Other
type: Population
allele count: 35
allele frequency: 3.923766816143498e-2
allele num: 892
num of homozygotes: 1

South Asian
type: Population
allele count: 144
allele frequency: 8.785845027455766e-3
allele num: 16390
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

QD
type: SiteQuality
SIO_000300: 1.64e1

MQRankSum
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SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 3.27e0

VQSLOD
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SIO_000300: 6.69e0

DP
type: SiteQuality
SIO_000300: 2.168101e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 999
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GenotypeQuality
all individuals: 3273
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.525646111128063e-5
allele num: 65546
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QD
type: SiteQuality
SIO_000300: 1.287e1

FS
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BaseQRankSum
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ClippingRankSum
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MQ
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SIO_000300: 6.0e1

MQRankSum
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DP
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InbreedingCoeff
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SIO_000300: -2.0e-4

VQSLOD
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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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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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66054
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.216249087813184e-4
allele num: 16444
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -3.671e0

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

South Asian
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.513134003147319e-5
allele num: 66088
num of homozygotes: 0

East Asian
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African
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Other
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Non-Finnish)
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African
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
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FS
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QD
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DP
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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DP
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MQ
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MQRankSum
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QD
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ReadPosRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South 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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allele count: 0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.509379509379509e-5
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DP
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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FS
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QD
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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South Asian
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European (Non-Finnish)
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Other
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African
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European (Finnish)
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East Asian
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Latino
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MQRankSum
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MQ
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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East Asian
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European (Finnish)
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Other
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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QD
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MQ
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FS
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ClippingRankSum
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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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.492433061699651e-4
allele num: 8590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66616
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10280
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.63e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.099e0

QD
type: SiteQuality
SIO_000300: 1.276e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.07e-1

DP
type: SiteQuality
SIO_000300: 2.268506e6

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQRankSum
type: SiteQuality
SIO_000300: -3.47e-1

FS
type: SiteQuality
SIO_000300: 1.288e0

GenotypeDepth
all individuals: 34
bin: 1.75e1
variant carriers: 0

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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variant carriers: 0

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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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 21249
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 8596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.269139e6

VQSLOD
type: SiteQuality
SIO_000300: -1.019e1

FS
type: SiteQuality
SIO_000300: 2.4677e1

MQRankSum
type: SiteQuality
SIO_000300: -2.63e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.856e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e0

GenotypeDepth
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bin: 7.25e1
variant carriers: 29

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 12

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 16

GenotypeDepth
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variant carriers: 14

GenotypeDepth
all individuals: 1060
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variant carriers: 26

GenotypeDepth
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variant carriers: 26

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 26

GenotypeDepth
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GenotypeDepth
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variant carriers: 128

GenotypeDepth
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variant carriers: 24

GenotypeDepth
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variant carriers: 20

GenotypeDepth
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variant carriers: 27

GenotypeDepth
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variant carriers: 29

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 406

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

Latino
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allele count: 20
allele frequency: 1.729206294310911e-3
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 389
allele frequency: 3.764273272692084e-2
allele num: 10334
num of homozygotes: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049979000419992e-4
allele num: 66668
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.303964757709251e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.273e0

BaseQRankSum
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SIO_000300: -2.807e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.38e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

DP
type: SiteQuality
SIO_000300: 2.293263e6

MQRankSum
type: SiteQuality
SIO_000300: 4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.62e0

QD
type: SiteQuality
SIO_000300: 1.248e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6230
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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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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

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 21476
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8622
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.284516e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 5.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

VQSLOD
type: SiteQuality
SIO_000300: 6.2e-2

FS
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.674e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.27e-1

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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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 17

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3528
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4464
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

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

South Asian
type: Population
allele count: 17
allele frequency: 1.03030303030303e-3
allele num: 16500
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.286126e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 1.87e0

InbreedingCoeff
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SIO_000300: -5.0e-4

QD
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SIO_000300: 1.087e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.46e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.089e0

MQRankSum
type: SiteQuality
SIO_000300: 7.04e-1

GenotypeDepth
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variant carriers: 2

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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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 2.285977e6

FS
type: SiteQuality
SIO_000300: 1.557e0

MQRankSum
type: SiteQuality
SIO_000300: -7.48e-1

ClippingRankSum
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SIO_000300: 4.1e-2

BaseQRankSum
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SIO_000300: -2.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.05e-1

QD
type: SiteQuality
SIO_000300: 9.84e0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: 6.98e-1

MQRankSum
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SIO_000300: 2.09e-1

VQSLOD
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SIO_000300: 7.61e-1

FS
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SIO_000300: 4.117e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.94e-1

InbreedingCoeff
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SIO_000300: -3.0e-4

DP
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SIO_000300: 2.286113e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
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SIO_000300: 1.81e0

QD
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SIO_000300: 1.389e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 14

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 12
allele frequency: 1.814882032667877e-3
allele num: 6612
num of homozygotes: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.287428e6

MQRankSum
type: SiteQuality
SIO_000300: 4.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.05e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
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SIO_000300: 1.04e0

BaseQRankSum
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SIO_000300: 1.61e0

FS
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InbreedingCoeff
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QD
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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SIO_000300: 6.0e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11576
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8646
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Other
type: Population
allele count: 0
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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
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
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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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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FS
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QD
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MQ
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66730
num of homozygotes: 0

South Asian
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Other
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Latino
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European (Finnish)
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East Asian
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African
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VQSLOD
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QD
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MQ
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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European (Non-Finnish)
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BaseQRankSum
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DP
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InbreedingCoeff
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ReadPosRankSum
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FS
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MQRankSum
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QD
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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FS
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DP
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MQRankSum
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QD
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InbreedingCoeff
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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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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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ReadPosRankSum
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MQ
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MQRankSum
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BaseQRankSum
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FS
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VQSLOD
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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GenotypeDepth
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South Asian
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European (Finnish)
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European (Non-Finnish)
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ReadPosRankSum
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DP
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VQSLOD
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FS
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MQ
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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MQ
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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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East Asian
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FS
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VQSLOD
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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ClippingRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Other
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African
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South Asian
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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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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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VQSLOD
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Non-Finnish)
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East Asian
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European (Finnish)
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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Other
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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DP
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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African
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European (Finnish)
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DP
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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FS
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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East Asian
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ReadPosRankSum
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BaseQRankSum
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FS
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DP
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QD
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VQSLOD
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InbreedingCoeff
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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East Asian
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European (Finnish)
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Latino
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Other
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Finnish)
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Other
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African
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European (Non-Finnish)
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Latino
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South Asian
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MQ
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DP
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InbreedingCoeff
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QD
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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South Asian
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Other
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European (Finnish)
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Latino
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East Asian
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QD
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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FS
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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Latino
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QD
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MQ
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VQSLOD
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ReadPosRankSum
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DP
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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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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East Asian
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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DP
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MQ
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.113e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

VQSLOD
type: SiteQuality
SIO_000300: 6.36e-1

ClippingRankSum
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SIO_000300: 1.22e-1

FS
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SIO_000300: 0.0e0

QD
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SIO_000300: 1.121e1

ReadPosRankSum
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SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

DP
type: SiteQuality
SIO_000300: 2.292768e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997691777331455e-5
allele num: 66718
num of homozygotes: 0

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

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

VQSLOD
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SIO_000300: 7.52e-1

FS
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SIO_000300: 2.878e0

BaseQRankSum
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SIO_000300: 5.84e0

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: -3.71e-1

QD
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SIO_000300: 1.247e1

MQRankSum
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SIO_000300: 6.64e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
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SIO_000300: 6.967035e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 106
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GenotypeQuality
all individuals: 238
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.0e0

VQSLOD
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SIO_000300: -3.868e-1

ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -9.163e0

DP
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SIO_000300: 6.967215e6

MQRankSum
type: SiteQuality
SIO_000300: -1.13e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

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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variant carriers: 48

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

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 54

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 54
allele frequency: 5.320197044334975e-3
allele num: 10150
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.59e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.49e0

InbreedingCoeff
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SIO_000300: 1.09e-2

VQSLOD
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ClippingRankSum
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FS
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.968627e6

ReadPosRankSum
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SIO_000300: 5.95e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

FS
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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MQ
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SIO_000300: 5.984e1

MQRankSum
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ReadPosRankSum
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SIO_000300: 1.02e0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

DP
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SIO_000300: 6.971195e6

QD
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SIO_000300: 9.99e0

ClippingRankSum
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SIO_000300: -7.07e-1

InbreedingCoeff
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SIO_000300: 0.0e0

FS
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SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: -4.737e0

ReadPosRankSum
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SIO_000300: 1.3e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

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

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

Latino
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allele num: 11578
num of homozygotes: 0

South Asian
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Other
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
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SIO_000300: 0.0e0

BaseQRankSum
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MQ
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MQRankSum
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SIO_000300: 4.28e-1

ReadPosRankSum
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SIO_000300: 8.35e-1

QD
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SIO_000300: 1.094e1

VQSLOD
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SIO_000300: 1.61e0

ClippingRankSum
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SIO_000300: -1.414e0

DP
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SIO_000300: 6.971463e6

GenotypeQuality
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variant carriers: 0

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

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

African
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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: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66724
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e0

ClippingRankSum
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SIO_000300: -2.288e0

MQRankSum
type: SiteQuality
SIO_000300: -6.33e-1

BaseQRankSum
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SIO_000300: 6.63e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 4.431e0

QD
type: SiteQuality
SIO_000300: 1.372e1

InbreedingCoeff
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SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.97139e6

VQSLOD
type: SiteQuality
SIO_000300: -3.353e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
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allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: 5.629999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

ClippingRankSum
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SIO_000300: 1.47e0

FS
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SIO_000300: 2.754e0

BaseQRankSum
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SIO_000300: 3.82e0

ReadPosRankSum
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SIO_000300: 1.97e0

QD
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SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 6.971322e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
all individuals: 917
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 331

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 174
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variant carriers: 0

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

Latino
type: Population
allele count: 13
allele frequency: 1.122819139747797e-3
allele num: 11578
num of homozygotes: 0

African
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allele count: 321
allele frequency: 3.097259745272096e-2
allele num: 10364
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South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997332374186974e-5
allele num: 66726
num of homozygotes: 0

Other
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VQSLOD
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SIO_000300: 4.8e0

MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.86e-2

ReadPosRankSum
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QD
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FS
type: SiteQuality
SIO_000300: 1.208e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 7.003277e6

MQRankSum
type: SiteQuality
SIO_000300: 3.85e-1

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

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

Other
type: Population
allele count: 0
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allele num: 908
num of homozygotes: 0

African
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East Asian
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South Asian
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allele frequency: 2.422774076317383e-4
allele num: 16510
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European (Non-Finnish)
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allele count: 0
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European (Finnish)
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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FS
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DP
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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Latino
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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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InbreedingCoeff
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MQ
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ClippingRankSum
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FS
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DP
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QD
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SIO_000300: 1.267e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.48e-1