2-190660482-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660482
    reference: chr 2
allele count: 1
allele frequency: 8.519919571959241e-6
allele num: 117372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3815T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3815T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3815T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-293-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.219-13T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.133-13T>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4540
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

2-190660484-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660484
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660484
    reference: chr 2
allele count: 1
allele frequency: 8.467113730271625e-6
allele num: 118104
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-293-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3817A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.219-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3817A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.133-11A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3817A>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2273
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4620
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-190660491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660491
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660491
    reference: chr 2
allele count: 1
allele frequency: 8.356871855726965e-6
allele num: 119662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3824A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.219-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-293-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3824A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3824A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.133-4A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.133-4A>G
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: BaseQRankSum

2-190660502-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660502
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660502
    reference: chr 2
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-286A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.140A>G
  hgvsp: ENSP00000386623.1:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3835A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.140A>G
  hgvsp: ENSP00000406225.1:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.140A>G
  hgvsp: ENSP00000401064.2:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.140A>G
  hgvsp: ENSP00000343888.4:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.140A>G
  hgvsp: ENSP00000363959.4:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3835A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.140A>G
  hgvsp: ENSP00000406490.2:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.140A>G
  hgvsp: ENSP00000410082.1:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3835A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.140A>G
  hgvsp: ENSP00000387125.3:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.226A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.140A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.140A>G
  hgvsp: ENSP00000391136.1:p.Tyr47Cys
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Tyr47Cys
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

2-190660503-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660503
    reference: chr 2
allele count: 418
allele frequency: 3.465658475110271e-3
allele num: 120612
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.141T>C
  hgvsp: ENST00000420421.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-285T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.141T>C
  hgvsp: ENST00000374826.4:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.141T>C
  hgvsp: ENST00000450931.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.227T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.141T>C
  hgvsp: ENST00000424766.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.141T>C
  hgvsp: ENST00000409985.1:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.141T>C
  hgvsp: ENST00000441310.2:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3836T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.141T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.141T>C
  hgvsp: ENST00000342075.4:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.141T>C
  hgvsp: ENST00000447232.2:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3836T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.141T>C
  hgvsp: ENST00000409823.3:c.141T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3836T>C
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 4.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 35054
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 4.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
hgvs: p.Tyr47Tyr
num of homozygotes: 11
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/2-190660514-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660514
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660514
    reference: chr 2
allele count: 3
allele frequency: 2.48208760114507e-5
allele num: 120866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3847A>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.152A>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.152A>C
  hgvsp: ENSP00000410082.1:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.152A>C
  hgvsp: ENSP00000391136.1:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.152A>C
  hgvsp: ENSP00000363959.4:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.152A>C
  hgvsp: ENSP00000406490.2:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.152A>C
  hgvsp: ENSP00000401064.2:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3847A>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.152A>C
  hgvsp: ENSP00000386623.1:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3847A>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-274A>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.152A>C
  hgvsp: ENSP00000343888.4:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.152A>C
  hgvsp: ENSP00000387125.3:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.152A>C
  hgvsp: ENSP00000406225.1:p.Lys51Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.238A>C
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10584
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys51Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

2-190660525-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660525
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660525
    reference: chr 2
allele count: 2
allele frequency: 1.652018766933192e-5
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3858C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.163C>T
  hgvsp: ENSP00000401064.2:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.163C>T
  hgvsp: ENSP00000406225.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.163C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.163C>T
  hgvsp: ENSP00000391136.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.163C>T
  hgvsp: ENSP00000343888.4:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.163C>T
  hgvsp: ENSP00000363959.4:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.163C>T
  hgvsp: ENSP00000386623.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.163C>T
  hgvsp: ENSP00000406490.2:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-263C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.163C>T
  hgvsp: ENSP00000410082.1:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3858C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3858C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.249C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.163C>T
  hgvsp: ENSP00000387125.3:p.Arg55Ter
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4833
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg55Ter
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-190660529-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660529
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660529
    reference: chr 2
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3862A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.167A>G
  hgvsp: ENSP00000410082.1:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3862A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.167A>G
  hgvsp: ENSP00000391136.1:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.167A>G
  hgvsp: ENSP00000401064.2:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-259A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.253A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.167A>G
  hgvsp: ENSP00000406490.2:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.167A>G
  hgvsp: ENSP00000406225.1:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3862A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.167A>G
  hgvsp: ENSP00000363959.4:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.167A>G
  hgvsp: ENSP00000386623.1:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.167A>G
  hgvsp: ENSP00000387125.3:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.167A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.167A>G
  hgvsp: ENSP00000343888.4:p.Asp56Gly
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4840
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35143
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp56Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

2-190660533-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660534
    reference: chr 2
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.175dupG
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.261dupG
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.175dupG
  hgvsp: ENSP00000363959.4:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.175dupG
  hgvsp: ENSP00000391136.1:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.175dupG
  hgvsp: ENSP00000406225.1:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.175dupG
  hgvsp: ENSP00000406490.2:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3870dupG
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.175dupG
  hgvsp: ENSP00000387125.3:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-251dupG
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3870dupG
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.175dupG
  hgvsp: ENSP00000410082.1:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.175dupG
  hgvsp: ENSP00000401064.2:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.175dupG
  hgvsp: ENSP00000386623.1:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.175dupG
  hgvsp: ENSP00000343888.4:p.Glu59GlyfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3870dupG
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu59GlyfsTer7
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

2-190660533-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660533
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660533
    reference: chr 2
allele count: 5
allele frequency: 4.126365827088766e-5
allele num: 121172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.171C>T
  hgvsp: ENST00000450931.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.171C>T
  hgvsp: ENST00000409823.3:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.171C>T
  hgvsp: ENST00000409985.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.171C>T
  hgvsp: ENST00000420421.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.171C>T
  hgvsp: ENST00000342075.4:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.171C>T
  hgvsp: ENST00000447232.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-255C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.171C>T
  hgvsp: ENST00000441310.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3866C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.171C>T
  hgvsp: ENST00000424766.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.257C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.171C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3866C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.171C>T
  hgvsp: ENST00000374826.4:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3866C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35132
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4845
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn57Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

2-190660534-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660534
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660534
    reference: chr 2
allele count: 14
allele frequency: 1.155115511551155e-4
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.172G>A
  hgvsp: ENSP00000386623.1:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.172G>A
  hgvsp: ENSP00000406225.1:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-254G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.172G>A
  hgvsp: ENSP00000391136.1:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.172G>A
  hgvsp: ENSP00000410082.1:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3867G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3867G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3867G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.172G>A
  hgvsp: ENSP00000363959.4:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.172G>A
  hgvsp: ENSP00000406490.2:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.172G>A
  hgvsp: ENSP00000343888.4:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.172G>A
  hgvsp: ENSP00000401064.2:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.258G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.172G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.172G>A
  hgvsp: ENSP00000387125.3:p.Gly58Arg
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly58Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

2-190660535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660535
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660535
    reference: chr 2
allele count: 1
allele frequency: 8.250280509537325e-6
allele num: 121208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.173G>A
  hgvsp: ENSP00000343888.4:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.173G>A
  hgvsp: ENSP00000406225.1:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.173G>A
  hgvsp: ENSP00000401064.2:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.173G>A
  hgvsp: ENSP00000391136.1:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.173G>A
  hgvsp: ENSP00000386623.1:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3868G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.173G>A
  hgvsp: ENSP00000363959.4:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.173G>A
  hgvsp: ENSP00000410082.1:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.173G>A
  hgvsp: ENSP00000387125.3:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.173G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.173G>A
  hgvsp: ENSP00000406490.2:p.Gly58Glu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3868G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-253G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.259G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3868G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly58Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

2-190660536-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660536
    reference: chr 2
allele count: 401
allele frequency: 3.307762105089499e-3
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.174G>T
  hgvsp: ENST00000447232.2:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.174G>T
  hgvsp: ENST00000441310.2:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.174G>T
  hgvsp: ENST00000342075.4:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.174G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-252G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.174G>T
  hgvsp: ENST00000409823.3:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.174G>T
  hgvsp: ENST00000450931.1:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3869G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.174G>T
  hgvsp: ENST00000374826.4:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3869G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.174G>T
  hgvsp: ENST00000420421.1:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.174G>T
  hgvsp: ENST00000424766.1:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.260G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.174G>T
  hgvsp: ENST00000409985.1:c.174G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3869G>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4821
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly58Gly
num of homozygotes: 2
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-190660537-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660537
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660537
    reference: chr 2
allele count: 401
allele frequency: 3.307434717342175e-3
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.175G>A
  hgvsp: ENSP00000406490.2:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.175G>A
  hgvsp: ENSP00000391136.1:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.175G>A
  hgvsp: ENSP00000410082.1:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.175G>A
  hgvsp: ENSP00000401064.2:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.175G>A
  hgvsp: ENSP00000363959.4:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3870G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.261G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-251G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.175G>A
  hgvsp: ENSP00000406225.1:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3870G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.175G>A
  hgvsp: ENSP00000387125.3:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.175G>A
  hgvsp: ENSP00000343888.4:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.175G>A
  hgvsp: ENSP00000386623.1:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.175G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3870G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 9.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4831
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 8.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34862
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 6.75e1
  variant carriers: 20
genotype quality: GenotypeQuality
hgvs: p.Glu59Lys
num of homozygotes: 2
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-190660561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660561
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660561
    reference: chr 2
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.199C>T
  hgvsp: ENSP00000387125.3:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.199C>T
  hgvsp: ENSP00000406490.2:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.199C>T
  hgvsp: ENSP00000391136.1:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.285C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.199C>T
  hgvsp: ENSP00000406225.1:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.199C>T
  hgvsp: ENSP00000410082.1:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.199C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.199C>T
  hgvsp: ENSP00000386623.1:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3894C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3894C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-227C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.199C>T
  hgvsp: ENSP00000343888.4:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3894C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.199C>T
  hgvsp: ENSP00000401064.2:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.199C>T
  hgvsp: ENSP00000363959.4:p.Pro67Ser
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10751
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro67Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

2-190660570-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660570
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660570
    reference: chr 2
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.208G>T
  hgvsp: ENSP00000391136.1:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.208G>T
  hgvsp: ENSP00000363959.4:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.208G>T
  hgvsp: ENSP00000387125.3:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-218G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3903G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.208G>T
  hgvsp: ENSP00000343888.4:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3903G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.208G>T
  hgvsp: ENSP00000406225.1:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.208G>T
  hgvsp: ENSP00000406490.2:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.294G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.208G>T
  hgvsp: ENSP00000410082.1:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.208G>T
  hgvsp: ENSP00000401064.2:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3903G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.208G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.208G>T
  hgvsp: ENSP00000386623.1:p.Ala70Ser
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala70Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

2-190660573-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660573
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660573
    reference: chr 2
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000391136
  ensembl transcript: ENST00000420421
  gene symbol: PMS1
  hgvsc: ENST00000420421.1:c.211A>G
  hgvsp: ENSP00000391136.1:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.211A>G
  hgvsp: ENSP00000363959.4:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.211A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.211A>G
  hgvsp: ENSP00000406225.1:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.211A>G
  hgvsp: ENSP00000401064.2:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.211A>G
  hgvsp: ENSP00000343888.4:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.211A>G
  hgvsp: ENSP00000387125.3:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.211A>G
  hgvsp: ENSP00000406490.2:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3906A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.211A>G
  hgvsp: ENSP00000410082.1:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.211A>G
  hgvsp: ENSP00000386623.1:p.Met71Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-215A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3906A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3906A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.297A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met71Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-190660584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660584
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660584
    reference: chr 2
allele count: 4
allele frequency: 3.296196189597204e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.222C>T
  hgvsp: ENST00000424766.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.222C>T
  hgvsp: ENST00000447232.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.222C>T
  hgvsp: ENST00000441310.2:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.222C>T
  hgvsp: ENST00000342075.4:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-204C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.222C>T
  hgvsp: ENST00000450931.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.222C>T
  hgvsp: ENST00000374826.4:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3917C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.222C>T
  hgvsp: ENST00000409985.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.308C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.222C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3917C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.222C>T
  hgvsp: ENST00000409823.3:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3917C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10774
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr74Tyr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

2-190660586-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660586
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660586
    reference: chr 2
allele count: 65
allele frequency: 5.356495368691697e-4
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.224C>T
  hgvsp: ENSP00000343888.4:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.224C>T
  hgvsp: ENSP00000406225.1:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.224C>T
  hgvsp: ENSP00000406490.2:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.224C>T
  hgvsp: ENSP00000410082.1:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.310C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3919C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3919C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.224C>T
  hgvsp: ENSP00000401064.2:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.224C>T
  hgvsp: ENSP00000387125.3:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.224C>T
  hgvsp: ENSP00000386623.1:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-202C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.224C>T
  hgvsp: ENSP00000363959.4:p.Thr75Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3919C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.224C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1907
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr75Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

2-190660587-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660587
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660587
    reference: chr 2
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-201C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.225C>G
  hgvsp: ENST00000409823.3:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3920C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.225C>G
  hgvsp: ENST00000441310.2:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.225C>G
  hgvsp: ENST00000374826.4:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3920C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.311C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.225C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.225C>G
  hgvsp: ENST00000424766.1:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.225C>G
  hgvsp: ENST00000447232.2:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.225C>G
  hgvsp: ENST00000450931.1:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.225C>G
  hgvsp: ENST00000342075.4:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.225C>G
  hgvsp: ENST00000409985.1:c.225C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3920C>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34820
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10779
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr75Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-190660591-AAAAT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660591
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660587
    reference: chr 2
allele count: 2
allele frequency: 1.648070932972955e-5
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.235_238delAATA
  hgvsp: ENSP00000406225.1:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3930_132+3933delAATA
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.235_238delAATA
  hgvsp: ENSP00000363959.4:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.235_238delAATA
  hgvsp: ENSP00000410082.1:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3930_-111+3933delAATA
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.235_238delAATA
  hgvsp: ENSP00000406490.2:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.235_238delAATA
  hgvsp: ENSP00000343888.4:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3930_132+3933delAATA
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.235_238delAATA
  hgvsp: ENSP00000401064.2:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-191_-188delAATA
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.321_324delAATA
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.235_238delAATA
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.235_238delAATA
  hgvsp: ENSP00000387125.3:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.235_238delAATA
  hgvsp: ENSP00000386623.1:p.Asn79ValfsTer8
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn79ValfsTer8
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
reference allele: AAAAT
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

2-190660599-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660599
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660599
    reference: chr 2
allele count: 3
allele frequency: 2.472147142197904e-5
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.237T>C
  hgvsp: ENST00000424766.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.237T>C
  hgvsp: ENST00000342075.4:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.237T>C
  hgvsp: ENST00000374826.4:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.237T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3932T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.237T>C
  hgvsp: ENST00000447232.2:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.237T>C
  hgvsp: ENST00000441310.2:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.237T>C
  hgvsp: ENST00000450931.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3932T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.323T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.237T>C
  hgvsp: ENST00000409823.3:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-189T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3932T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.237T>C
  hgvsp: ENST00000409985.1:c.237T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn79Asn
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

2-190660604-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660604
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660604
    reference: chr 2
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.242A>G
  hgvsp: ENSP00000401064.2:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.242A>G
  hgvsp: ENSP00000410082.1:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.242A>G
  hgvsp: ENSP00000387125.3:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.242A>G
  hgvsp: ENSP00000363959.4:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3937A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.242A>G
  hgvsp: ENSP00000386623.1:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.328A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.242A>G
  hgvsp: ENSP00000406490.2:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.242A>G
  hgvsp: ENSP00000343888.4:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.242A>G
  hgvsp: ENSP00000406225.1:p.His81Arg
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3937A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.242A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-184A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3937A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34809
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His81Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-190660619-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660619
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660619
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.343A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.257A>T
  hgvsp: ENSP00000406225.1:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3952A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.257A>T
  hgvsp: ENSP00000406490.2:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.257A>T
  hgvsp: ENSP00000401064.2:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.257A>T
  hgvsp: ENSP00000343888.4:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-169A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.257A>T
  hgvsp: ENSP00000363959.4:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.257A>T
  hgvsp: ENSP00000410082.1:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3952A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.257A>T
  hgvsp: ENSP00000387125.3:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3952A>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.257A>T
  hgvsp: ENSP00000386623.1:p.Asn86Ile
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.257A>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34815
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn86Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

2-190660629-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660629
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660629
    reference: chr 2
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.267T>G
  hgvsp: ENST00000450931.1:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.353T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.267T>G
  hgvsp: ENST00000441310.2:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.267T>G
  hgvsp: ENST00000447232.2:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.267T>G
  hgvsp: ENST00000424766.1:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.267T>G
  hgvsp: ENST00000374826.4:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.267T>G
  hgvsp: ENST00000409985.1:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.267T>G
  hgvsp: ENST00000409823.3:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3962T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.267T>G
  hgvsp: ENST00000342075.4:c.267T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3962T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3962T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-159T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.267T>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34802
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr89Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/2-190660632-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660632
    reference: chr 2
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-156C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3965C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.270C>A
  hgvsp: ENSP00000343888.4:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.270C>A
  hgvsp: ENSP00000401064.2:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.356C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.270C>A
  hgvsp: ENSP00000406490.2:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.270C>A
  hgvsp: ENSP00000406225.1:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.270C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.270C>A
  hgvsp: ENSP00000410082.1:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3965C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3965C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.270C>A
  hgvsp: ENSP00000387125.3:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.270C>A
  hgvsp: ENSP00000386623.1:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.270C>A
  hgvsp: ENSP00000363959.4:p.Tyr90Ter
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr90Ter
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

2-190660632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660632
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660632
    reference: chr 2
allele count: 8
allele frequency: 6.592935669430205e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.270C>T
  hgvsp: ENST00000409823.3:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.270C>T
  hgvsp: ENST00000342075.4:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.356C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3965C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.270C>T
  hgvsp: ENST00000450931.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.270C>T
  hgvsp: ENST00000441310.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3965C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.270C>T
  hgvsp: ENST00000424766.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.270C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3965C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.270C>T
  hgvsp: ENST00000447232.2:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-156C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.270C>T
  hgvsp: ENST00000374826.4:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.270C>T
  hgvsp: ENST00000409985.1:c.270C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr90Tyr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-190660633-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660633
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660633
    reference: chr 2
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3966G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.271G>A
  hgvsp: ENSP00000406225.1:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.271G>A
  hgvsp: ENSP00000406490.2:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.271G>A
  hgvsp: ENSP00000410082.1:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.271G>A
  hgvsp: ENSP00000401064.2:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.271G>A
  hgvsp: ENSP00000343888.4:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-155G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.271G>A
  hgvsp: ENSP00000363959.4:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.271G>A
  hgvsp: ENSP00000387125.3:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.357G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3966G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.271G>A
  hgvsp: ENSP00000386623.1:p.Gly91Ser
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.271G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3966G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly91Ser
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-190660639-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660639
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660639
    reference: chr 2
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.277C>T
  hgvsp: ENSP00000406490.2:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.277C>T
  hgvsp: ENSP00000386623.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.277C>T
  hgvsp: ENSP00000410082.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3972C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.277C>T
  hgvsp: ENSP00000343888.4:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3972C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.277C>T
  hgvsp: ENSP00000406225.1:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.277C>T
  hgvsp: ENSP00000363959.4:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-149C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.277C>T
  hgvsp: ENSP00000401064.2:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3972C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.363C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.277C>T
  hgvsp: ENSP00000387125.3:p.Arg93Cys
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.277C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg93Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum

2-190660640-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660640
    reference: chr 2
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.278G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.278G>A
  hgvsp: ENSP00000406490.2:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.278G>A
  hgvsp: ENSP00000401064.2:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3973G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3973G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.278G>A
  hgvsp: ENSP00000386623.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.278G>A
  hgvsp: ENSP00000387125.3:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.278G>A
  hgvsp: ENSP00000410082.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.364G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.278G>A
  hgvsp: ENSP00000343888.4:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.278G>A
  hgvsp: ENSP00000406225.1:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3973G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.278G>A
  hgvsp: ENSP00000363959.4:p.Arg93His
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-148G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg93His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-190660640-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660640
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660640
    reference: chr 2
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.278G>C
  hgvsp: ENSP00000401064.2:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-148G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.278G>C
  hgvsp: ENSP00000386623.1:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.278G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3973G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.278G>C
  hgvsp: ENSP00000363959.4:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.278G>C
  hgvsp: ENSP00000343888.4:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3973G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.364G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.278G>C
  hgvsp: ENSP00000406490.2:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.278G>C
  hgvsp: ENSP00000387125.3:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.278G>C
  hgvsp: ENSP00000406225.1:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3973G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.278G>C
  hgvsp: ENSP00000410082.1:p.Arg93Pro
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1915
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1521
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg93Pro
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP

2-190660648-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660648
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660647
    reference: chr 2
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.288delC
  hgvsp: ENSP00000343888.4:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.288delC
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.288delC
  hgvsp: ENSP00000386623.1:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.374delC
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.288delC
  hgvsp: ENSP00000410082.1:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.288delC
  hgvsp: ENSP00000406490.2:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.288delC
  hgvsp: ENSP00000401064.2:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3983delC
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.288delC
  hgvsp: ENSP00000406225.1:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.288delC
  hgvsp: ENSP00000387125.3:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.288delC
  hgvsp: ENSP00000363959.4:p.Leu97TrpfsTer7
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3983delC
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3983delC
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-138delC
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2404
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu97TrpfsTer7
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: GC
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/2-190660649-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660649
    reference: chr 2
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3982C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.287C>A
  hgvsp: ENSP00000387125.3:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.287C>A
  hgvsp: ENSP00000401064.2:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.287C>A
  hgvsp: ENSP00000386623.1:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.287C>A
  hgvsp: ENSP00000343888.4:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.287C>A
  hgvsp: ENSP00000410082.1:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.287C>A
  hgvsp: ENSP00000363959.4:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.287C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-139C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3982C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.287C>A
  hgvsp: ENSP00000406225.1:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.287C>A
  hgvsp: ENSP00000406490.2:p.Ala96Asp
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3982C>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.373C>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34779
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala96Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

2-190660649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660649
    reference: chr 2
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: G
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3982C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.287C>G
  hgvsp: ENSP00000401064.2:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.287C>G
  hgvsp: ENSP00000386623.1:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.287C>G
  hgvsp: ENSP00000406490.2:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.287C>G
  hgvsp: ENSP00000406225.1:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3982C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3982C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.287C>G
  hgvsp: ENSP00000343888.4:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.287C>G
  hgvsp: ENSP00000363959.4:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.287C>G
  hgvsp: ENSP00000410082.1:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-139C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.287C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.287C>G
  hgvsp: ENSP00000387125.3:p.Ala96Gly
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.373C>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala96Gly
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD

2-190660649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660649
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660649
    reference: chr 2
allele count: 2
allele frequency: 1.648614339647526e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.287C>T
  hgvsp: ENSP00000406225.1:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.373C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3982C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.287C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.287C>T
  hgvsp: ENSP00000410082.1:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.287C>T
  hgvsp: ENSP00000387125.3:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.287C>T
  hgvsp: ENSP00000386623.1:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.287C>T
  hgvsp: ENSP00000343888.4:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.287C>T
  hgvsp: ENSP00000363959.4:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.287C>T
  hgvsp: ENSP00000406490.2:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.287C>T
  hgvsp: ENSP00000401064.2:p.Ala96Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3982C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-139C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  clinical significance: not_provided
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3982C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10785
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala96Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

2-190660657-TCAATTTGTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660657
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660647
    reference: chr 2
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsp: ENSP00000343888.4:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsp: ENSP00000406490.2:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsp: ENSP00000410082.1:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsp: ENSP00000401064.2:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsp: ENSP00000363959.4:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsp: ENSP00000406225.1:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsp: ENSP00000386623.1:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsp: ENSP00000387125.3:p.Ser99LeufsTer2
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34777
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser99LeufsTer2
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: TCAATTTGTTG
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

2-190660660-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660660
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660660
    reference: chr 2
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3993A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.298A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.298A>G
  hgvsp: ENSP00000386623.1:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.298A>G
  hgvsp: ENSP00000406225.1:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-128A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.298A>G
  hgvsp: ENSP00000406490.2:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3993A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3993A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.298A>G
  hgvsp: ENSP00000410082.1:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.298A>G
  hgvsp: ENSP00000401064.2:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.298A>G
  hgvsp: ENSP00000343888.4:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.298A>G
  hgvsp: ENSP00000387125.3:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.298A>G
  hgvsp: ENSP00000363959.4:p.Ile100Val
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.384A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1918
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ile100Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS

2-190660664-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660664
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660664
    reference: chr 2
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.302G>A
  hgvsp: ENSP00000401064.2:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+3997G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.302G>A
  hgvsp: ENSP00000410082.1:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.302G>A
  hgvsp: ENSP00000387125.3:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.302G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-124G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+3997G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.302G>A
  hgvsp: ENSP00000386623.1:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.302G>A
  hgvsp: ENSP00000406225.1:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.302G>A
  hgvsp: ENSP00000406490.2:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.302G>A
  hgvsp: ENSP00000363959.4:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.388G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.302G>A
  hgvsp: ENSP00000343888.4:p.Cys101Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+3997G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys101Tyr
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: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

2-190660667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660667
    reference: chr 2
allele count: 2
allele frequency: 1.648886177387175e-5
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.305G>A
  hgvsp: ENSP00000343888.4:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4000G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.305G>A
  hgvsp: ENSP00000406490.2:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.305G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.305G>A
  hgvsp: ENSP00000386623.1:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.305G>A
  hgvsp: ENSP00000363959.4:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.305G>A
  hgvsp: ENSP00000406225.1:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.305G>A
  hgvsp: ENSP00000401064.2:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.305G>A
  hgvsp: ENSP00000410082.1:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4000G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4000G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.305G>A
  hgvsp: ENSP00000387125.3:p.Cys102Tyr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-121G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.391G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Cys102Tyr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

2-190660672-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660672
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.396G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.310G>A
  hgvsp: ENSP00000401064.2:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.310G>A
  hgvsp: ENSP00000386623.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-116G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.310G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.310G>A
  hgvsp: ENSP00000410082.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.310G>A
  hgvsp: ENSP00000387125.3:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.310G>A
  hgvsp: ENSP00000406225.1:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.310G>A
  hgvsp: ENSP00000343888.4:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.310G>A
  hgvsp: ENSP00000363959.4:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.310G>A
  hgvsp: ENSP00000406490.2:p.Ala104Thr
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4005G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4005G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4005G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34716
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala104Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-190660672-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660672
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660672
    reference: chr 2
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4005G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.310G>C
  hgvsp: ENSP00000406225.1:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.310G>C
  hgvsp: ENSP00000410082.1:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4005G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.310G>C
  hgvsp: ENSP00000387125.3:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.310G>C
  hgvsp: ENSP00000363959.4:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.310G>C
  hgvsp: ENSP00000401064.2:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.396G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.310G>C
  hgvsp: ENSP00000343888.4:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.310G>C
  hgvsp: ENSP00000386623.1:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.310G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.310G>C
  hgvsp: ENSP00000406490.2:p.Ala104Pro
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4005G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-116G>C
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1925
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala104Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-190660683-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660683
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660683
    reference: chr 2
allele count: 3831
allele frequency: 3.159743987331332e-2
allele num: 121244
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4016G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4016G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+6G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4016G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10125
  bin: 2.75e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 8.75e1
  variant carriers: 221
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 8.25e1
  variant carriers: 247
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 6.75e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 32433
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.25e1
  variant carriers: 320
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 4.25e1
  variant carriers: 125
genotype quality: GenotypeQuality
hgvs: c.315+6G>A
num of homozygotes: 83
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

2-190660687-TTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660687
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660685
    reference: chr 2
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4024_132+4025delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+14_401+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+14_-111+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+14_315+15delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4024_132+4025delAT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4024_-111+4025delAT
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5433
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: TTA
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

2-190660698-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660697
    reference: chr 2
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4035delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4035delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4035delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+25delT
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: AT
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

2-190660705-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660705
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660705
    reference: chr 2
allele count: 1
allele frequency: 8.257092842751923e-6
allele num: 121108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4038T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4038T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4038T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+28T>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1712
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

2-190660710-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660710
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660710
    reference: chr 2
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4043T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4043T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4043T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+33T>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10714
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2203
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

2-190660711-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660711
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660711
    reference: chr 2
allele count: 1
allele frequency: 8.259820927082301e-6
allele num: 121068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4044C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4044C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4044C>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+34C>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1714
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31537
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

2-190660724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660724
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660724
    reference: chr 2
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4057C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4057C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4057C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+47C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

2-190660727-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660727
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660727
    reference: chr 2
allele count: 19
allele frequency: 1.57118285260651e-4
allele num: 120928
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4060T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4060T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4060T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+50T>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30381
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1713
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5287
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

2-190660728-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190660728
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190660728
    reference: chr 2
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.401+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.132+4061A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.132+4061A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-111+4061A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.315+51A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 631
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2202
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

2-190670332-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670332
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670332
    reference: chr 2
allele count: 1
allele frequency: 8.387010198604401e-6
allele num: 119232
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12411C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9655C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9655C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-46C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12411C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12698
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4785
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

2-190670336-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670336
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670336
    reference: chr 2
allele count: 1
allele frequency: 8.36988181726874e-6
allele num: 119476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9659A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9659A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12407A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12407A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-42A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16797
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9472
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-190670339-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670339
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670339
    reference: chr 2
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9662T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12404T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12404T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9662T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-39T>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2511
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16954
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-190670342-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670342
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670342
    reference: chr 2
allele count: 10
allele frequency: 8.363721521528219e-5
allele num: 119564
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12401A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12401A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9665A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-36A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9665A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9551
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

2-190670351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670351
    reference: chr 2
allele count: 1
allele frequency: 8.338753523123364e-6
allele num: 119922
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9674G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9674G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12392G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12392G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-27G>A
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17810
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

2-190670354-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670354
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670354
    reference: chr 2
allele count: 3
allele frequency: 2.498542516865162e-5
allele num: 120070
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12389T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12389T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9677T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9677T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-24T>C
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9677
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-190670361-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670361
    reference: chr 2
allele count: 2
allele frequency: 1.661681621801263e-5
allele num: 120360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12382A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9684A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9684A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12382A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-17A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-190670363-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670364
    reference: chr 2
allele count: 1
allele frequency: 8.313657676831499e-6
allele num: 120284
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12373dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9693dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12373dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-8dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9693dupT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-8dupT
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

2-190670363-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670363
    reference: chr 2
allele count: 7
allele frequency: 5.819560373782049e-5
allele num: 120284
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12380G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9686G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9686G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12380G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-15G>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

2-190670363-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670363
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670362
    reference: chr 2
allele count: 4
allele frequency: 3.3254630707326e-5
allele num: 120284
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9693delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12373delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9693delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-8delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12373delT
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-8delT
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18246
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: GT
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

2-190670364-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670364
    reference: chr 2
allele count: 1
allele frequency: 8.306199747491528e-6
allele num: 120392
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9687T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12379T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9687T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-14T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12379T>C
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 18208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9874
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 818
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

2-190670370-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670370
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670370
    reference: chr 2
allele count: 2
allele frequency: 1.657000828500414e-5
allele num: 120700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12373T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9693T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12373T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9693T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-8T>C
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18607
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.316-8T>C
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

2-190670374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670374
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670374
    reference: chr 2
allele count: 6
allele frequency: 4.966476285075739e-5
allele num: 120810
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9697C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12369C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-4C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9697C>T
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12369C>T
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.316-4C>T
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-190670376-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670376
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670376
    reference: chr 2
allele count: 2
allele frequency: 1.654697686732634e-5
allele num: 120868
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12367A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9699A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9699A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316-2A>G
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12367A>G
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18455
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9847
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.316-2A>G
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-190670378-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 190670378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 190670378
    reference: chr 2
allele count: 1
allele frequency: 8.269930532583527e-6
allele num: 120920
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000404492
  ensembl transcript: ENST00000418224
  gene symbol: PMS1
  hgvsc: ENST00000418224.3:c.-111+9701G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000389938
  ensembl transcript: ENST00000424307
  gene symbol: PMS1
  hgvsc: ENST00000424307.1:c.133G>C
  hgvsp: ENSP00000389938.1:p.Val45Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406490
  ensembl transcript: ENST00000441310
  gene symbol: PMS1
  hgvsc: ENST00000441310.2:c.316G>C
  hgvsp: ENSP00000406490.2:p.Val106Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000343888
  ensembl transcript: ENST00000342075
  gene symbol: PMS1
  hgvsc: ENST00000342075.4:c.315+9701G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000387125
  ensembl transcript: ENST00000409823
  gene symbol: PMS1
  hgvsc: ENST00000409823.3:c.316G>C
  hgvsp: ENSP00000387125.3:p.Val106Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000406225
  ensembl transcript: ENST00000450931
  gene symbol: PMS1
  hgvsc: ENST00000450931.1:c.316G>C
  hgvsp: ENSP00000406225.1:p.Val106Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000398378
  ensembl transcript: ENST00000432292
  gene symbol: PMS1
  hgvsc: ENST00000432292.3:c.-110-12365G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000424059
  gene symbol: PMS1
  hgvsc: ENST00000424059.1:n.316G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000410082
  ensembl transcript: ENST00000424766
  gene symbol: PMS1
  hgvsc: ENST00000424766.1:c.316G>C
  hgvsp: ENSP00000410082.1:p.Val106Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000401064
  ensembl transcript: ENST00000447232
  gene symbol: PMS1
  hgvsc: ENST00000447232.2:c.316G>C
  hgvsp: ENSP00000401064.2:p.Val106Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000363959
  ensembl transcript: ENST00000374826
  gene symbol: PMS1
  hgvsc: ENST00000374826.4:c.316G>C
  hgvsp: ENSP00000363959.4:p.Val106Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000386623
  ensembl transcript: ENST00000409985
  gene symbol: PMS1
  hgvsc: ENST00000409985.1:c.316G>C
  hgvsp: ENSP00000386623.1:p.Val106Leu
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000064933
  ensembl transcript: ENST00000421722
  gene symbol: PMS1
  hgvsc: ENST00000421722.1:n.402G>C
  variant of: http://identifiers.org/hgnc/9121
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000064933
  ensembl protein: ENSP00000411151
  ensembl transcript: ENST00000447734
  gene symbol: PMS1
  hgvsc: ENST00000447734.1:c.133-12365G>C
  variant of: http://identifiers.org/hgnc/9121
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18745
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val106Leu
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 566
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9927
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 34028
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6410
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1015
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8380
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2265
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1928
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32977
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1415
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.556953353677524e-5
allele num: 64228
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16254
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.678837e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.516e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.573e0

GenotypeDepth
all individuals: 1441
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 247
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 566
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 849
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 122
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 92
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 7.5e0
variant carriers: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 1.545117428924598e-5
allele num: 64720
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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DP
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QD
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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InbreedingCoeff
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SIO_000300: -2.0e-4

ReadPosRankSum
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SIO_000300: -5.96e-1

MQ
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SIO_000300: 6.0e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 11510
num of homozygotes: 0

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

South 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 frequency: 1.518833535844471e-5
allele num: 65840
num of homozygotes: 0

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

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

VQSLOD
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QD
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ClippingRankSum
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FS
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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DP
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SIO_000300: 1.702659e6

MQ
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SIO_000300: 5.984e1

BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9922
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

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

South Asian
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allele 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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.505162708088744e-5
allele num: 66438
num of homozygotes: 0

MQ
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SIO_000300: 5.931e1

InbreedingCoeff
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SIO_000300: -4.0e-4

BaseQRankSum
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FS
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SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 3.55e-1

ReadPosRankSum
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SIO_000300: -3.55e-1

QD
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SIO_000300: 1.697e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.02e-1

VQSLOD
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SIO_000300: -1.095e-1

DP
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SIO_000300: 1.712425e6

GenotypeDepth
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variant carriers: 22

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.00960062599693e-5
allele num: 66454
num of homozygotes: 0

Other
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South Asian
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allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
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allele count: 395
allele frequency: 3.969849246231156e-2
allele num: 9950
num of homozygotes: 11

Latino
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allele count: 19
allele frequency: 1.643883024744766e-3
allele num: 11558
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

MQRankSum
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SIO_000300: 2.72e-1

ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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MQ
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FS
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SIO_000300: 6.96e-1

ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.004446580939791e-5
allele num: 66568
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African
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European (Finnish)
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allele count: 0
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500195025353296e-5
allele num: 66658
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

MQRankSum
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SIO_000300: 7.09e-1

DP
type: SiteQuality
SIO_000300: 1.726885e6

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.947e1

ClippingRankSum
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SIO_000300: 4.97e-1

VQSLOD
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InbreedingCoeff
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SIO_000300: 1.03e-2

BaseQRankSum
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SIO_000300: 4.37e0

QD
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SIO_000300: 1.724e1

ReadPosRankSum
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SIO_000300: -2.01e-1

GenotypeDepth
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bin: 4.75e1
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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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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bin: 9.25e1
variant carriers: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
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SIO_000300: -9.61e-1

VQSLOD
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InbreedingCoeff
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DP
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QD
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MQ
type: SiteQuality
SIO_000300: 5.921e1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
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allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.000420029402058e-5
allele num: 66662
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-1

MQ
type: SiteQuality
SIO_000300: 5.921e1

FS
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

DP
type: SiteQuality
SIO_000300: 1.727653e6

QD
type: SiteQuality
SIO_000300: 1.112e1

VQSLOD
type: SiteQuality
SIO_000300: 3.3e0

GenotypeDepth
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bin: 2.25e1
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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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.949961000779984e-4
allele num: 66668
num of homozygotes: 0

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

European (Finnish)
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allele count: 1
allele frequency: 1.514233797698365e-4
allele num: 6604
num of homozygotes: 0

African
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
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.67e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.728579e6

BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.207e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10292
num of homozygotes: 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
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QD
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SIO_000300: 9.77e0

BaseQRankSum
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InbreedingCoeff
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FS
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.727871e6

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

GenotypeDepth
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variant carriers: 138

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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variant carriers: 399

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3224
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variant carriers: 0

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
type: Population
allele count: 16
allele frequency: 1.38264777048047e-3
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 6.790842064415988e-4
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 1.816860465116279e-3
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 334
allele frequency: 5.009448960614333e-3
allele num: 66674
num of homozygotes: 1

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

European (Finnish)
type: Population
allele count: 12
allele frequency: 1.81653042688465e-3
allele num: 6606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.753707e6

BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.888e0

QD
type: SiteQuality
SIO_000300: 1.524e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

GenotypeDepth
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variant carriers: 18

GenotypeDepth
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variant carriers: 19

GenotypeDepth
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variant carriers: 22

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: 23

GenotypeDepth
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variant carriers: 21

GenotypeDepth
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variant carriers: 25

GenotypeDepth
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variant carriers: 23

GenotypeDepth
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variant carriers: 20

GenotypeQuality
all individuals: 8
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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: 399

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

Latino
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allele count: 16
allele frequency: 1.38264777048047e-3
allele num: 11572
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

South Asian
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allele count: 30
allele frequency: 1.816860465116279e-3
allele num: 16512
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 334
allele frequency: 5.009448960614333e-3
allele num: 66674
num of homozygotes: 1

African
type: Population
allele count: 7
allele frequency: 6.784260515603799e-4
allele num: 10318
num of homozygotes: 0

European (Finnish)
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allele count: 12
allele frequency: 1.815980629539952e-3
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.754013e6

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.206e0

FS
type: SiteQuality
SIO_000300: 1.899e0

QD
type: SiteQuality
SIO_000300: 1.515e1

VQSLOD
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SIO_000300: 2.47e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-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
all individuals: 581
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GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2371
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499520153550864e-5
allele num: 66688
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 3.739e0

BaseQRankSum
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SIO_000300: -6.317e0

VQSLOD
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SIO_000300: 5.92e-1

ReadPosRankSum
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SIO_000300: 7.19e-1

MQRankSum
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SIO_000300: -8.33e-1

DP
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SIO_000300: 1.735964e6

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.360000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

MQ
type: SiteQuality
SIO_000300: 5.958e1

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
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
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SIO_000300: -2.866e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.286e1

FS
type: SiteQuality
SIO_000300: 3.215e0

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

DP
type: SiteQuality
SIO_000300: 1.73603e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-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
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GenotypeQuality
all individuals: 8702
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variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.0225e1

VQSLOD
type: SiteQuality
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DP
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
type: SiteQuality
SIO_000300: 4.85e0

QD
type: SiteQuality
SIO_000300: 1.685e1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 4
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allele num: 16512
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
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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)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: 1.9e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.18e-1

InbreedingCoeff
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SIO_000300: 6.6e-3

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.736432e6

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 2
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allele num: 908
num of homozygotes: 0

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

African
type: Population
allele count: 1
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East Asian
type: Population
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Latino
type: Population
allele count: 4
allele frequency: 3.456619426201175e-4
allele num: 11572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.095952023988006e-4
allele num: 66700
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

MQRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
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VQSLOD
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East Asian
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European (Non-Finnish)
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African
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InbreedingCoeff
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African
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East Asian
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VQSLOD
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MQ
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DP
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East Asian
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European (Finnish)
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MQ
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MQRankSum
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QD
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DP
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VQSLOD
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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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European (Non-Finnish)
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African
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South Asian
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East Asian
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FS
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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DP
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ReadPosRankSum
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BaseQRankSum
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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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European (Non-Finnish)
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European (Finnish)
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Other
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East Asian
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South Asian
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Latino
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InbreedingCoeff
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DP
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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ClippingRankSum
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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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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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FS
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DP
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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ReadPosRankSum
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DP
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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QD
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MQRankSum
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GenotypeDepth
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GenotypeQuality
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Latino
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European (Finnish)
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African
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East Asian
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MQ
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FS
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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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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ReadPosRankSum
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MQ
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InbreedingCoeff
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FS
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VQSLOD
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QD
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DP
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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Latino
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African
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European (Finnish)
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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FS
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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East Asian
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European (Non-Finnish)
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Other
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Latino
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InbreedingCoeff
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FS
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QD
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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MQ
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DP
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VQSLOD
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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Other
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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DP
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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European (Finnish)
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European (Non-Finnish)
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East Asian
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Latino
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MQ
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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QD
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BaseQRankSum
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MQRankSum
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FS
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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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East Asian
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South Asian
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Latino
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Other
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European (Non-Finnish)
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European (Finnish)
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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East Asian
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European (Non-Finnish)
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QD
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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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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bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.736928e6

FS
type: SiteQuality
SIO_000300: 1.0818e1

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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SIO_000300: -1.588e0

MQ
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SIO_000300: 5.912e1

ReadPosRankSum
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SIO_000300: -1.89e-1

BaseQRankSum
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SIO_000300: -2.468e0

ClippingRankSum
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SIO_000300: 7.82e-1

MQRankSum
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SIO_000300: 9.71e-1

QD
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SIO_000300: 1.08e1

GenotypeDepth
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

Latino
type: Population
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.736882e6

InbreedingCoeff
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SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
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SIO_000300: -5.53e-1

BaseQRankSum
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SIO_000300: -3.507e0

VQSLOD
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SIO_000300: 1.05e-1

MQ
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SIO_000300: 5.908e1

FS
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

ClippingRankSum
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SIO_000300: -3.35e-1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3252
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.377e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.736385e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.438e0

MQRankSum
type: SiteQuality
SIO_000300: -1.169e0

ReadPosRankSum
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SIO_000300: 1.03e0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

GenotypeDepth
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bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: -1.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 2.438e0

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

DP
type: SiteQuality
SIO_000300: 1.736385e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

BaseQRankSum
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SIO_000300: -2.377e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.26e-1

GenotypeDepth
all individuals: 269
bin: 9.25e1
variant carriers: 167

GenotypeDepth
all individuals: 1409
bin: 5.25e1
variant carriers: 238

GenotypeDepth
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variant carriers: 84

GenotypeDepth
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variant carriers: 41

GenotypeDepth
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variant carriers: 286

GenotypeDepth
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variant carriers: 182

GenotypeDepth
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variant carriers: 763

GenotypeDepth
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variant carriers: 361

GenotypeDepth
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variant carriers: 298

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 10
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variant carriers: 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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variant carriers: 0

Latino
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allele count: 594
allele frequency: 5.135742694103407e-2
allele num: 11566
num of homozygotes: 10

South Asian
type: Population
allele count: 189
allele frequency: 1.144760751059964e-2
allele num: 16510
num of homozygotes: 2

European (Non-Finnish)
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allele count: 2426
allele frequency: 3.641221144898388e-2
allele num: 66626
num of homozygotes: 48

East Asian
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allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

African
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allele count: 76
allele frequency: 7.320362165286072e-3
allele num: 10382
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 519
allele frequency: 7.854116222760291e-2
allele num: 6608
num of homozygotes: 21

Other
type: Population
allele count: 25
allele frequency: 2.753303964757709e-2
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

InbreedingCoeff
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SIO_000300: 1.23e-2

QD
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BaseQRankSum
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VQSLOD
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SIO_000300: 4.43e0

MQRankSum
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SIO_000300: 2.37e-1

FS
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.87e-1

DP
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SIO_000300: 1.929589e6

GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66598
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10372
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

East Asian
type: Population
allele count: 1
allele frequency: 1.157407407407407e-4
allele num: 8640
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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MQ
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SIO_000300: 6.067e1

MQRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -6.43e-1

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

African
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allele count: 1
allele frequency: 9.652509652509652e-5
allele num: 10360
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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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ClippingRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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BaseQRankSum
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MQRankSum
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FS
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QD
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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South Asian
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Other
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ReadPosRankSum
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FS
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

African
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Latino
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South Asian
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East Asian
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Other
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European (Finnish)
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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VQSLOD
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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African
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East Asian
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MQ
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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DP
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QD
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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East Asian
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South Asian
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African
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European (Finnish)
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Other
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European (Non-Finnish)
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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MQ
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MQRankSum
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BaseQRankSum
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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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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: 7.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
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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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.523647001462701e-5
allele num: 65632
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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ClippingRankSum
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QD
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InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8498
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9960
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6544
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.520218911523259e-5
allele num: 65780
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

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

MQRankSum
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QD
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MQ
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FS
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -8.139999999999999e-1

InbreedingCoeff
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SIO_000300: 1.06e-2

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65804
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.177024482109228e-4
allele num: 8496
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ClippingRankSum
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SIO_000300: -9.91e-1

ReadPosRankSum
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MQ
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FS
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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SIO_000300: 6.35e-1

MQRankSum
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SIO_000300: 8.3e-2

DP
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SIO_000300: 1.989066e6

BaseQRankSum
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SIO_000300: 4.44e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.594167679222357e-5
allele num: 65840
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.735150244584206e-5
allele num: 11448
num of homozygotes: 0

African
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num of homozygotes: 0

South Asian
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allele frequency: 2.446183953033268e-4
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QD
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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num of homozygotes: 0

Other
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European (Non-Finnish)
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num of homozygotes: 0

East Asian
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Latino
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num of homozygotes: 0

European (Finnish)
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South Asian
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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FS
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QD
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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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variant carriers: 0

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

Other
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 3
allele frequency: 4.535833081342607e-5
allele num: 66140
num of homozygotes: 0

South Asian
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Latino
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num of homozygotes: 0

MQ
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FS
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66308
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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African
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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DP
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ClippingRankSum
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QD
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FS
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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num of homozygotes: 0

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

South Asian
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allele frequency: 6.095330976472023e-5
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European (Non-Finnish)
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allele frequency: 1.50961625554784e-5
allele num: 66242
num of homozygotes: 0

Latino
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allele frequency: 1.741856819369448e-4
allele num: 11482
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East Asian
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African
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Other
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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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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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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South Asian
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European (Non-Finnish)
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European (Finnish)
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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DP
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Non-Finnish)
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African
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Other
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South Asian
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Latino
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East Asian
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BaseQRankSum
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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num of homozygotes: 0

European (Finnish)
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African
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South Asian
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Latino
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European (Non-Finnish)
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Other
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.729e0

DP
type: SiteQuality
SIO_000300: 2.041918e6

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

FS
type: SiteQuality
SIO_000300: 1.386e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.928e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeDepth
all individuals: 18718
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1276
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 678
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1337
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 827
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 42899
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7057
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 477
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1130
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6356
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005530175522962e-5
allele num: 66544
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 1.638e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 5.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.042472e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.909e0

GenotypeDepth
all individuals: 1276
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 828
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3225
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 947
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9844
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 813
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 785
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 817
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18487
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6356
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7057
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0