19-879945-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879945
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879945
    reference: chr 19
allele count: 19
allele frequency: 2.184862353671719e-4
allele num: 86962
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.913C>T
  hgvsp: ENSP00000465762.1:p.His305Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.606C>T
  hgvsp: ENSP00000475725.1:p.His203Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1345C>T
  hgvsp: ENSP00000475528.1:p.His449Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1345C>T
  hgvsp: ENSP00000325612.1:p.His449Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1345C>T
  hgvsp: ENSP00000379153.1:p.His449Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1345C>T
  hgvsp: ENSP00000269814.4:p.His449Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1345C>T
  hgvsp: ENSP00000464810.1:p.His449Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1345C>T
  hgvsp: ENSP00000308528.4:p.His449Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1345C>T
  hgvsp: ENSP00000466868.1:p.His449Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4601C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9762
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14064
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13812
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1922
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7627
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1498
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His449Tyr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

19-879947-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879947
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879947
    reference: chr 19
allele count: 143
allele frequency: 2.145085803432137e-3
allele num: 66664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1343G>A
  hgvsp: ENSP00000269814.4:p.Ser448Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1343G>A
  hgvsp: ENSP00000325612.1:p.Ser448Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.911G>A
  hgvsp: ENSP00000465762.1:p.Ser304Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1343G>A
  hgvsp: ENSP00000475528.1:p.Ser448Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1343G>A
  hgvsp: ENSP00000464810.1:p.Ser448Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1343G>A
  hgvsp: ENSP00000379153.1:p.Ser448Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4603G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1343G>A
  hgvsp: ENSP00000466868.1:p.Ser448Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.604G>A
  hgvsp: ENSP00000475725.1:p.Ser202Asn
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1343G>A
  hgvsp: ENSP00000308528.4:p.Ser448Asn
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9311
  bin: 1.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8321
  bin: 1.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13267
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5972
  bin: 2.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 8442
  bin: 2.5e0
  variant carriers: 7
hgvs: p.Ser448Asn
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

19-879952-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879952
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879952
    reference: chr 19
allele count: 5
allele frequency: 5.559385354355222e-5
allele num: 89938
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1338T>C
  hgvsp: ENST00000592943.1:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1338T>C
  hgvsp: ENST00000325464.1:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1338T>C
  hgvsp: ENST00000606248.1:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1338T>C
  hgvsp: ENST00000269814.4:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1338T>C
  hgvsp: ENST00000395808.3:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1338T>C
  hgvsp: ENST00000589119.1:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.599T>C
  hgvsp: ENST00000607471.1:c.599T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4608T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1338T>C
  hgvsp: ENST00000312090.6:c.1338T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.906T>C
  hgvsp: ENST00000586017.1:c.906T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6219
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2491
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9398
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7780
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12810
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ile446Ile
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

19-879955-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879955
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879955
    reference: chr 19
allele count: 30
allele frequency: 4.06371911573472e-4
allele num: 73824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.903G>C
  hgvsp: ENST00000586017.1:c.903G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1335G>C
  hgvsp: ENST00000592943.1:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1335G>C
  hgvsp: ENST00000395808.3:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.596G>C
  hgvsp: ENST00000607471.1:c.596G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1335G>C
  hgvsp: ENST00000589119.1:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1335G>C
  hgvsp: ENST00000312090.6:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1335G>C
  hgvsp: ENST00000325464.1:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1335G>C
  hgvsp: ENST00000606248.1:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4611G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1335G>C
  hgvsp: ENST00000269814.4:c.1335G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12313
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7861
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8850
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 1.25e1
  variant carriers: 7
hgvs: p.Gly445Gly
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

19-879963-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879963
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879963
    reference: chr 19
allele count: 2
allele frequency: 2.217786648924373e-5
allele num: 90180
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1327C>G
  hgvsp: ENSP00000325612.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1327C>G
  hgvsp: ENSP00000464810.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1327C>G
  hgvsp: ENSP00000466868.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.588C>G
  hgvsp: ENSP00000475725.1:p.Leu197Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1327C>G
  hgvsp: ENSP00000308528.4:p.Leu443Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1327C>G
  hgvsp: ENSP00000379153.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1327C>G
  hgvsp: ENSP00000269814.4:p.Leu443Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.895C>G
  hgvsp: ENSP00000465762.1:p.Leu299Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4619C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1327C>G
  hgvsp: ENSP00000475528.1:p.Leu443Val
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8602
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17919
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7070
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19183
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu443Val
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: QD

19-879964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879964
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879964
    reference: chr 19
allele count: 1
allele frequency: 1.143301397114307e-5
allele num: 87466
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1326C>G
  hgvsp: ENST00000325464.1:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1326C>G
  hgvsp: ENST00000395808.3:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1326C>G
  hgvsp: ENST00000589119.1:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.894C>G
  hgvsp: ENST00000586017.1:c.894C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4620C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1326C>G
  hgvsp: ENST00000312090.6:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1326C>G
  hgvsp: ENST00000269814.4:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.587C>G
  hgvsp: ENST00000607471.1:c.587C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1326C>G
  hgvsp: ENST00000592943.1:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1326C>G
  hgvsp: ENST00000606248.1:c.1326C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17983
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala442Ala
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

19-879965-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879965
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879965
    reference: chr 19
allele count: 1
allele frequency: 1.178244886417193e-5
allele num: 84872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.893C>T
  hgvsp: ENSP00000465762.1:p.Ala298Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1325C>T
  hgvsp: ENSP00000475528.1:p.Ala442Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1325C>T
  hgvsp: ENSP00000325612.1:p.Ala442Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1325C>T
  hgvsp: ENSP00000308528.4:p.Ala442Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1325C>T
  hgvsp: ENSP00000466868.1:p.Ala442Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1325C>T
  hgvsp: ENSP00000464810.1:p.Ala442Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4621C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1325C>T
  hgvsp: ENSP00000379153.1:p.Ala442Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1325C>T
  hgvsp: ENSP00000269814.4:p.Ala442Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.586C>T
  hgvsp: ENSP00000475725.1:p.Ala196Val
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 735
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala442Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

19-879965-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879965
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879965
    reference: chr 19
allele count: 1
allele frequency: 1.178244886417193e-5
allele num: 84872
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.586C>G
  hgvsp: ENSP00000475725.1:p.Ala196Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1325C>G
  hgvsp: ENSP00000269814.4:p.Ala442Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1325C>G
  hgvsp: ENSP00000308528.4:p.Ala442Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.893C>G
  hgvsp: ENSP00000465762.1:p.Ala298Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1325C>G
  hgvsp: ENSP00000379153.1:p.Ala442Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1325C>G
  hgvsp: ENSP00000464810.1:p.Ala442Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1325C>G
  hgvsp: ENSP00000466868.1:p.Ala442Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1325C>G
  hgvsp: ENSP00000475528.1:p.Ala442Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1325C>G
  hgvsp: ENSP00000325612.1:p.Ala442Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4621C>G
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 11194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8355
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18312
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6574
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7323
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13712
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala442Gly
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-879966-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879966
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879966
    reference: chr 19
allele count: 1
allele frequency: 1.065802655980219e-5
allele num: 93826
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1324G>T
  hgvsp: ENSP00000464810.1:p.Ala442Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.892G>T
  hgvsp: ENSP00000465762.1:p.Ala298Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1324G>T
  hgvsp: ENSP00000325612.1:p.Ala442Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1324G>T
  hgvsp: ENSP00000379153.1:p.Ala442Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.585G>T
  hgvsp: ENSP00000475725.1:p.Ala196Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1324G>T
  hgvsp: ENSP00000308528.4:p.Ala442Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1324G>T
  hgvsp: ENSP00000475528.1:p.Ala442Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4622G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1324G>T
  hgvsp: ENSP00000269814.4:p.Ala442Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1324G>T
  hgvsp: ENSP00000466868.1:p.Ala442Ser
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11237
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala442Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-879970-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879970
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879970
    reference: chr 19
allele count: 2
allele frequency: 2.172307424946779e-5
allele num: 92068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1320A>G
  hgvsp: ENST00000312090.6:c.1320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.581A>G
  hgvsp: ENST00000607471.1:c.581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1320A>G
  hgvsp: ENST00000269814.4:c.1320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.888A>G
  hgvsp: ENST00000586017.1:c.888A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1320A>G
  hgvsp: ENST00000325464.1:c.1320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1320A>G
  hgvsp: ENST00000592943.1:c.1320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1320A>G
  hgvsp: ENST00000589119.1:c.1320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1320A>G
  hgvsp: ENST00000395808.3:c.1320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4626A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1320A>G
  hgvsp: ENST00000606248.1:c.1320A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8085
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20106
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5479
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7767
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser440Ser
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP

19-879973-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879973
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879973
    reference: chr 19
allele count: 1
allele frequency: 1.044059302568386e-5
allele num: 95780
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1317G>A
  hgvsp: ENST00000269814.4:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.578G>A
  hgvsp: ENST00000607471.1:c.578G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1317G>A
  hgvsp: ENST00000589119.1:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.885G>A
  hgvsp: ENST00000586017.1:c.885G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1317G>A
  hgvsp: ENST00000592943.1:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1317G>A
  hgvsp: ENST00000395808.3:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1317G>A
  hgvsp: ENST00000325464.1:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1317G>A
  hgvsp: ENST00000606248.1:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4629G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1317G>A
  hgvsp: ENST00000312090.6:c.1317G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10403
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4996
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7896
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr439Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

19-879974-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879974
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879974
    reference: chr 19
allele count: 2
allele frequency: 2.100310846005209e-5
allele num: 95224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1316C>T
  hgvsp: ENSP00000464810.1:p.Thr439Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.577C>T
  hgvsp: ENSP00000475725.1:p.Thr193Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1316C>T
  hgvsp: ENSP00000269814.4:p.Thr439Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1316C>T
  hgvsp: ENSP00000466868.1:p.Thr439Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1316C>T
  hgvsp: ENSP00000308528.4:p.Thr439Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.884C>T
  hgvsp: ENSP00000465762.1:p.Thr295Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1316C>T
  hgvsp: ENSP00000325612.1:p.Thr439Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1316C>T
  hgvsp: ENSP00000379153.1:p.Thr439Met
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4630C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1316C>T
  hgvsp: ENSP00000475528.1:p.Thr439Met
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10200
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21342
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8157
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23868
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr439Met
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

19-879979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879979
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879979
    reference: chr 19
allele count: 4
allele frequency: 4.091653027823241e-5
allele num: 97760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1311G>A
  hgvsp: ENST00000606248.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1311G>A
  hgvsp: ENST00000395808.3:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1311G>A
  hgvsp: ENST00000312090.6:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4635G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1311G>A
  hgvsp: ENST00000589119.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1311G>A
  hgvsp: ENST00000325464.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.572G>A
  hgvsp: ENST00000607471.1:c.572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1311G>A
  hgvsp: ENST00000592943.1:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.879G>A
  hgvsp: ENST00000586017.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1311G>A
  hgvsp: ENST00000269814.4:c.1311G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9474
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23092
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2797
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser437Ser
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum

19-879982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879982
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879982
    reference: chr 19
allele count: 4
allele frequency: 4.043426399530963e-5
allele num: 98926
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1308A>G
  hgvsp: ENST00000325464.1:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.876A>G
  hgvsp: ENST00000586017.1:c.876A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1308A>G
  hgvsp: ENST00000312090.6:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1308A>G
  hgvsp: ENST00000395808.3:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1308A>G
  hgvsp: ENST00000606248.1:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1308A>G
  hgvsp: ENST00000589119.1:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1308A>G
  hgvsp: ENST00000269814.4:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4638A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.569A>G
  hgvsp: ENST00000607471.1:c.569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1308A>G
  hgvsp: ENST00000592943.1:c.1308A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8981
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6908
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu436Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

19-879984-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879984
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879984
    reference: chr 19
allele count: 4
allele frequency: 4.019858099009105e-5
allele num: 99506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1306C>T
  hgvsp: ENST00000606248.1:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.874C>T
  hgvsp: ENST00000586017.1:c.874C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1306C>T
  hgvsp: ENST00000269814.4:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.567C>T
  hgvsp: ENST00000607471.1:c.567C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1306C>T
  hgvsp: ENST00000312090.6:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1306C>T
  hgvsp: ENST00000395808.3:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1306C>T
  hgvsp: ENST00000592943.1:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1306C>T
  hgvsp: ENST00000589119.1:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1306C>T
  hgvsp: ENST00000325464.1:c.1306C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4640C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2973
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8727
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24488
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu436Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

19-879993-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879993
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879993
    reference: chr 19
allele count: 1
allele frequency: 9.88513473438643e-6
allele num: 101162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4649G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1297G>A
  hgvsp: ENSP00000308528.4:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1297G>A
  hgvsp: ENSP00000379153.1:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1297G>A
  hgvsp: ENSP00000464810.1:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1297G>A
  hgvsp: ENSP00000475528.1:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1297G>A
  hgvsp: ENSP00000325612.1:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.865G>A
  hgvsp: ENSP00000465762.1:p.Ala289Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1297G>A
  hgvsp: ENSP00000269814.4:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.558G>A
  hgvsp: ENSP00000475725.1:p.Ala187Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1297G>A
  hgvsp: ENSP00000466868.1:p.Ala433Thr
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala433Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/19-879999-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 879999
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 879999
    reference: chr 19
allele count: 1
allele frequency: 9.871473416122091e-6
allele num: 101302
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.552T>G
  hgvsp: ENSP00000475725.1:p.Leu185Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1291T>G
  hgvsp: ENSP00000464810.1:p.Leu431Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.859T>G
  hgvsp: ENSP00000465762.1:p.Leu287Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1291T>G
  hgvsp: ENSP00000475528.1:p.Leu431Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4655T>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1291T>G
  hgvsp: ENSP00000269814.4:p.Leu431Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1291T>G
  hgvsp: ENSP00000379153.1:p.Leu431Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1291T>G
  hgvsp: ENSP00000325612.1:p.Leu431Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1291T>G
  hgvsp: ENSP00000466868.1:p.Leu431Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1291T>G
  hgvsp: ENSP00000308528.4:p.Leu431Val
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9998
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7585
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1231
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1292
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu431Val
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-880000-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880000
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880000
    reference: chr 19
allele count: 1
allele frequency: 9.884743886285906e-6
allele num: 101166
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1290C>T
  hgvsp: ENST00000269814.4:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1290C>T
  hgvsp: ENST00000325464.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4656C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1290C>T
  hgvsp: ENST00000592943.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1290C>T
  hgvsp: ENST00000395808.3:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.858C>T
  hgvsp: ENST00000586017.1:c.858C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1290C>T
  hgvsp: ENST00000589119.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1290C>T
  hgvsp: ENST00000606248.1:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.551C>T
  hgvsp: ENST00000607471.1:c.551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1290C>T
  hgvsp: ENST00000312090.6:c.1290C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10049
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1552
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His430His
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

19-880001-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880001
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880001
    reference: chr 19
allele count: 1
allele frequency: 9.880056118718754e-6
allele num: 101214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1289A>G
  hgvsp: ENSP00000379153.1:p.His430Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1289A>G
  hgvsp: ENSP00000464810.1:p.His430Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4657A>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1289A>G
  hgvsp: ENSP00000308528.4:p.His430Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.857A>G
  hgvsp: ENSP00000465762.1:p.His286Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.550A>G
  hgvsp: ENSP00000475725.1:p.His184Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1289A>G
  hgvsp: ENSP00000325612.1:p.His430Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1289A>G
  hgvsp: ENSP00000475528.1:p.His430Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1289A>G
  hgvsp: ENSP00000466868.1:p.His430Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1289A>G
  hgvsp: ENSP00000269814.4:p.His430Arg
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1287
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His430Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ

19-880001-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880001
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880001
    reference: chr 19
allele count: 1
allele frequency: 9.880056118718754e-6
allele num: 101214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4657A>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1289A>C
  hgvsp: ENSP00000464810.1:p.His430Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.550A>C
  hgvsp: ENSP00000475725.1:p.His184Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1289A>C
  hgvsp: ENSP00000325612.1:p.His430Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1289A>C
  hgvsp: ENSP00000269814.4:p.His430Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1289A>C
  hgvsp: ENSP00000379153.1:p.His430Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.857A>C
  hgvsp: ENSP00000465762.1:p.His286Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1289A>C
  hgvsp: ENSP00000475528.1:p.His430Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1289A>C
  hgvsp: ENSP00000466868.1:p.His430Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1289A>C
  hgvsp: ENSP00000308528.4:p.His430Pro
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His430Pro
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: T
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQ

19-880002-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880002
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880002
    reference: chr 19
allele count: 1
allele frequency: 9.894720177313386e-6
allele num: 101064
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1288C>T
  hgvsp: ENSP00000464810.1:p.His430Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.856C>T
  hgvsp: ENSP00000465762.1:p.His286Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.549C>T
  hgvsp: ENSP00000475725.1:p.His184Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1288C>T
  hgvsp: ENSP00000379153.1:p.His430Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4658C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1288C>T
  hgvsp: ENSP00000325612.1:p.His430Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1288C>T
  hgvsp: ENSP00000466868.1:p.His430Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1288C>T
  hgvsp: ENSP00000308528.4:p.His430Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1288C>T
  hgvsp: ENSP00000269814.4:p.His430Tyr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1288C>T
  hgvsp: ENSP00000475528.1:p.His430Tyr
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23634
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10077
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
hgvs: p.His430Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-880003-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880003
    reference: chr 19
allele count: 4
allele frequency: 3.952647285519477e-5
allele num: 101198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1287C>T
  hgvsp: ENST00000589119.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1287C>T
  hgvsp: ENST00000592943.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1287C>T
  hgvsp: ENST00000606248.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.855C>T
  hgvsp: ENST00000586017.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.548C>T
  hgvsp: ENST00000607471.1:c.548C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1287C>T
  hgvsp: ENST00000325464.1:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1287C>T
  hgvsp: ENST00000312090.6:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1287C>T
  hgvsp: ENST00000395808.3:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4659C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1287C>T
  hgvsp: ENST00000269814.4:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val429Val
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

19-880003-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880003
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880003
    reference: chr 19
allele count: 2
allele frequency: 1.976323642759738e-5
allele num: 101198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1287C>A
  hgvsp: ENST00000269814.4:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1287C>A
  hgvsp: ENST00000589119.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1287C>A
  hgvsp: ENST00000592943.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1287C>A
  hgvsp: ENST00000325464.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1287C>A
  hgvsp: ENST00000606248.1:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4659C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.855C>A
  hgvsp: ENST00000586017.1:c.855C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1287C>A
  hgvsp: ENST00000312090.6:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1287C>A
  hgvsp: ENST00000395808.3:c.1287C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.548C>A
  hgvsp: ENST00000607471.1:c.548C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23689
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 729
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val429Val
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ

19-880005-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880005
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880005
    reference: chr 19
allele count: 26
allele frequency: 2.581772684844994e-4
allele num: 100706
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4661G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1285G>A
  hgvsp: ENSP00000466868.1:p.Val429Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.546G>A
  hgvsp: ENSP00000475725.1:p.Val183Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.853G>A
  hgvsp: ENSP00000465762.1:p.Val285Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1285G>A
  hgvsp: ENSP00000379153.1:p.Val429Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1285G>A
  hgvsp: ENSP00000475528.1:p.Val429Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1285G>A
  hgvsp: ENSP00000464810.1:p.Val429Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1285G>A
  hgvsp: ENSP00000325612.1:p.Val429Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1285G>A
  hgvsp: ENSP00000308528.4:p.Val429Ile
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1285G>A
  hgvsp: ENSP00000269814.4:p.Val429Ile
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23395
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10166
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val429Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

19-880006-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880006
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880006
    reference: chr 19
allele count: 5
allele frequency: 4.942567367193215e-5
allele num: 101162
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4662C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1284C>T
  hgvsp: ENST00000589119.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1284C>T
  hgvsp: ENST00000269814.4:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1284C>T
  hgvsp: ENST00000325464.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.852C>T
  hgvsp: ENST00000586017.1:c.852C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1284C>T
  hgvsp: ENST00000606248.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1284C>T
  hgvsp: ENST00000312090.6:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.545C>T
  hgvsp: ENST00000607471.1:c.545C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1284C>T
  hgvsp: ENST00000395808.3:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1284C>T
  hgvsp: ENST00000592943.1:c.1284C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27852
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala428Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-880006-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880006
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880006
    reference: chr 19
allele count: 1
allele frequency: 9.88513473438643e-6
allele num: 101162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4662C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1284C>A
  hgvsp: ENST00000312090.6:c.1284C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1284C>A
  hgvsp: ENST00000592943.1:c.1284C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1284C>A
  hgvsp: ENST00000325464.1:c.1284C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1284C>A
  hgvsp: ENST00000606248.1:c.1284C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.545C>A
  hgvsp: ENST00000607471.1:c.545C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1284C>A
  hgvsp: ENST00000395808.3:c.1284C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.852C>A
  hgvsp: ENST00000586017.1:c.852C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1284C>A
  hgvsp: ENST00000589119.1:c.1284C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1284C>A
  hgvsp: ENST00000269814.4:c.1284C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2920
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23644
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala428Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

19-880007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880007
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880007
    reference: chr 19
allele count: 1
allele frequency: 9.914340101522842e-6
allele num: 100864
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1283C>T
  hgvsp: ENSP00000379153.1:p.Ala428Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1283C>T
  hgvsp: ENSP00000325612.1:p.Ala428Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1283C>T
  hgvsp: ENSP00000464810.1:p.Ala428Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4663C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1283C>T
  hgvsp: ENSP00000475528.1:p.Ala428Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.851C>T
  hgvsp: ENSP00000465762.1:p.Ala284Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.544C>T
  hgvsp: ENSP00000475725.1:p.Ala182Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1283C>T
  hgvsp: ENSP00000466868.1:p.Ala428Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1283C>T
  hgvsp: ENSP00000269814.4:p.Ala428Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1283C>T
  hgvsp: ENSP00000308528.4:p.Ala428Val
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7417
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 846
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6073
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4671
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala428Val
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/19-880008-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880008
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 100744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1282G>T
  hgvsp: ENSP00000466868.1:p.Ala428Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1282G>T
  hgvsp: ENSP00000269814.4:p.Ala428Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.850G>T
  hgvsp: ENSP00000465762.1:p.Ala284Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1282G>T
  hgvsp: ENSP00000379153.1:p.Ala428Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1282G>T
  hgvsp: ENSP00000464810.1:p.Ala428Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4664G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1282G>T
  hgvsp: ENSP00000308528.4:p.Ala428Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1282G>T
  hgvsp: ENSP00000325612.1:p.Ala428Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.543G>T
  hgvsp: ENSP00000475725.1:p.Ala182Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1282G>T
  hgvsp: ENSP00000475528.1:p.Ala428Ser
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1482
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala428Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

19-880008-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880008
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880008
    reference: chr 19
allele count: 0
allele frequency: 0.0e0
allele num: 100744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.850G>A
  hgvsp: ENSP00000465762.1:p.Ala284Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1282G>A
  hgvsp: ENSP00000325612.1:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1282G>A
  hgvsp: ENSP00000269814.4:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.543G>A
  hgvsp: ENSP00000475725.1:p.Ala182Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4664G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1282G>A
  hgvsp: ENSP00000466868.1:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1282G>A
  hgvsp: ENSP00000464810.1:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1282G>A
  hgvsp: ENSP00000475528.1:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1282G>A
  hgvsp: ENSP00000379153.1:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1282G>A
  hgvsp: ENSP00000308528.4:p.Ala428Thr
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 23426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4689
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7356
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10259
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6029
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 932
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala428Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

19-880009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880009
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880009
    reference: chr 19
allele count: 5
allele frequency: 4.929896866557551e-5
allele num: 101422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1281C>T
  hgvsp: ENST00000592943.1:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1281C>T
  hgvsp: ENST00000269814.4:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1281C>T
  hgvsp: ENST00000312090.6:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1281C>T
  hgvsp: ENST00000589119.1:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1281C>T
  hgvsp: ENST00000325464.1:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1281C>T
  hgvsp: ENST00000395808.3:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.542C>T
  hgvsp: ENST00000607471.1:c.542C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1281C>T
  hgvsp: ENST00000606248.1:c.1281C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.849C>T
  hgvsp: ENST00000586017.1:c.849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4665C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23849
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7269
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4510
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10231
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1306
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro427Pro
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

19-880010-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880010
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880010
    reference: chr 19
allele count: 20
allele frequency: 1.967148618078096e-4
allele num: 101670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1280C>T
  hgvsp: ENSP00000269814.4:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1280C>T
  hgvsp: ENSP00000466868.1:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1280C>T
  hgvsp: ENSP00000379153.1:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1280C>T
  hgvsp: ENSP00000325612.1:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1280C>T
  hgvsp: ENSP00000464810.1:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1280C>T
  hgvsp: ENSP00000308528.4:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.541C>T
  hgvsp: ENSP00000475725.1:p.Pro181Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1280C>T
  hgvsp: ENSP00000475528.1:p.Pro427Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4666C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.848C>T
  hgvsp: ENSP00000465762.1:p.Pro283Leu
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23983
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7247
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5931
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro427Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

19-880011-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880011
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880011
    reference: chr 19
allele count: 3
allele frequency: 2.951651941203093e-5
allele num: 101638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1279C>T
  hgvsp: ENSP00000464810.1:p.Pro427Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4667C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1279C>T
  hgvsp: ENSP00000379153.1:p.Pro427Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.540C>T
  hgvsp: ENSP00000475725.1:p.Pro181Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1279C>T
  hgvsp: ENSP00000475528.1:p.Pro427Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.847C>T
  hgvsp: ENSP00000465762.1:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1279C>T
  hgvsp: ENSP00000466868.1:p.Pro427Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1279C>T
  hgvsp: ENSP00000325612.1:p.Pro427Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1279C>T
  hgvsp: ENSP00000308528.4:p.Pro427Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1279C>T
  hgvsp: ENSP00000269814.4:p.Pro427Ser
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10213
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2221
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro427Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/19-880013-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880013
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880013
    reference: chr 19
allele count: 1
allele frequency: 9.854158454867955e-6
allele num: 101480
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1277G>T
  hgvsp: ENSP00000325612.1:p.Gly426Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.845G>T
  hgvsp: ENSP00000465762.1:p.Gly282Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.538G>T
  hgvsp: ENSP00000475725.1:p.Gly180Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1277G>T
  hgvsp: ENSP00000379153.1:p.Gly426Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1277G>T
  hgvsp: ENSP00000464810.1:p.Gly426Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1277G>T
  hgvsp: ENSP00000475528.1:p.Gly426Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1277G>T
  hgvsp: ENSP00000308528.4:p.Gly426Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1277G>T
  hgvsp: ENSP00000466868.1:p.Gly426Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1277G>T
  hgvsp: ENSP00000269814.4:p.Gly426Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4669G>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10250
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28502
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly426Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

19-880014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880014
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880014
    reference: chr 19
allele count: 2
allele frequency: 1.965408805031446e-5
allele num: 101760
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.537G>A
  hgvsp: ENSP00000475725.1:p.Gly180Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1276G>A
  hgvsp: ENSP00000379153.1:p.Gly426Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.844G>A
  hgvsp: ENSP00000465762.1:p.Gly282Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1276G>A
  hgvsp: ENSP00000325612.1:p.Gly426Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1276G>A
  hgvsp: ENSP00000466868.1:p.Gly426Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1276G>A
  hgvsp: ENSP00000475528.1:p.Gly426Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1276G>A
  hgvsp: ENSP00000308528.4:p.Gly426Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1276G>A
  hgvsp: ENSP00000464810.1:p.Gly426Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4670G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1276G>A
  hgvsp: ENSP00000269814.4:p.Gly426Ser
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4429
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10284
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly426Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-880015-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880015
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880015
    reference: chr 19
allele count: 6
allele frequency: 5.897733304499971e-5
allele num: 101734
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1275G>A
  hgvsp: ENST00000589119.1:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4671G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1275G>A
  hgvsp: ENST00000395808.3:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1275G>A
  hgvsp: ENST00000606248.1:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.843G>A
  hgvsp: ENST00000586017.1:c.843G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1275G>A
  hgvsp: ENST00000312090.6:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1275G>A
  hgvsp: ENST00000592943.1:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1275G>A
  hgvsp: ENST00000269814.4:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.536G>A
  hgvsp: ENST00000607471.1:c.536G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1275G>A
  hgvsp: ENST00000325464.1:c.1275G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24120
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 9.75e1
  variant carriers: 6
hgvs: p.Ala425Ala
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

19-880016-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880016
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880016
    reference: chr 19
allele count: 7
allele frequency: 6.87042380699998e-5
allele num: 101886
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.842C>T
  hgvsp: ENSP00000465762.1:p.Ala281Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1274C>T
  hgvsp: ENSP00000466868.1:p.Ala425Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1274C>T
  hgvsp: ENSP00000308528.4:p.Ala425Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1274C>T
  hgvsp: ENSP00000464810.1:p.Ala425Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1274C>T
  hgvsp: ENSP00000475528.1:p.Ala425Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.535C>T
  hgvsp: ENSP00000475725.1:p.Ala179Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4672C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1274C>T
  hgvsp: ENSP00000269814.4:p.Ala425Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1274C>T
  hgvsp: ENSP00000379153.1:p.Ala425Val
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1274C>T
  hgvsp: ENSP00000325612.1:p.Ala425Val
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2868
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4462
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10309
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 852
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1356
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala425Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

19-880017-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880017
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880017
    reference: chr 19
allele count: 2
allele frequency: 1.961592028089998e-5
allele num: 101958
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.534G>A
  hgvsp: ENSP00000475725.1:p.Ala179Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1273G>A
  hgvsp: ENSP00000464810.1:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1273G>A
  hgvsp: ENSP00000466868.1:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1273G>A
  hgvsp: ENSP00000269814.4:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1273G>A
  hgvsp: ENSP00000475528.1:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1273G>A
  hgvsp: ENSP00000308528.4:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1273G>A
  hgvsp: ENSP00000379153.1:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1273G>A
  hgvsp: ENSP00000325612.1:p.Ala425Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4673G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.841G>A
  hgvsp: ENSP00000465762.1:p.Ala281Thr
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24250
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5773
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala425Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

19-880018-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880018
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880018
    reference: chr 19
allele count: 5
allele frequency: 4.897735287203197e-5
allele num: 102088
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.840C>T
  hgvsp: ENST00000586017.1:c.840C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4674C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1272C>T
  hgvsp: ENST00000395808.3:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1272C>T
  hgvsp: ENST00000589119.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1272C>T
  hgvsp: ENST00000325464.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1272C>T
  hgvsp: ENST00000269814.4:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1272C>T
  hgvsp: ENST00000312090.6:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1272C>T
  hgvsp: ENST00000606248.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1272C>T
  hgvsp: ENST00000592943.1:c.1272C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.533C>T
  hgvsp: ENST00000607471.1:c.533C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24238
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr424Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

19-880022-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880022
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880022
    reference: chr 19
allele count: 4
allele frequency: 3.914353935882883e-5
allele num: 102188
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1268G>A
  hgvsp: ENSP00000379153.1:p.Arg423His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.836G>A
  hgvsp: ENSP00000465762.1:p.Arg279His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1268G>A
  hgvsp: ENSP00000308528.4:p.Arg423His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1268G>A
  hgvsp: ENSP00000464810.1:p.Arg423His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1268G>A
  hgvsp: ENSP00000325612.1:p.Arg423His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.529G>A
  hgvsp: ENSP00000475725.1:p.Arg177His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1268G>A
  hgvsp: ENSP00000475528.1:p.Arg423His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1268G>A
  hgvsp: ENSP00000269814.4:p.Arg423His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1268G>A
  hgvsp: ENSP00000466868.1:p.Arg423His
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4678G>A
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10546
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6976
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24223
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5677
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4340
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg423His
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

19-880023-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880023
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880023
    reference: chr 19
allele count: 11
allele frequency: 1.075268817204301e-4
allele num: 102300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1267C>T
  hgvsp: ENSP00000475528.1:p.Arg423Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1267C>T
  hgvsp: ENSP00000325612.1:p.Arg423Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1267C>T
  hgvsp: ENSP00000464810.1:p.Arg423Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1267C>T
  hgvsp: ENSP00000379153.1:p.Arg423Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.835C>T
  hgvsp: ENSP00000465762.1:p.Arg279Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4679C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.528C>T
  hgvsp: ENSP00000475725.1:p.Arg177Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1267C>T
  hgvsp: ENSP00000308528.4:p.Arg423Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1267C>T
  hgvsp: ENSP00000269814.4:p.Arg423Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1267C>T
  hgvsp: ENSP00000466868.1:p.Arg423Cys
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5658
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10638
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg423Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

19-880025-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880025
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880025
    reference: chr 19
allele count: 1
allele frequency: 9.743739647276625e-6
allele num: 102630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1265C>T
  hgvsp: ENSP00000466868.1:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1265C>T
  hgvsp: ENSP00000269814.4:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.526C>T
  hgvsp: ENSP00000475725.1:p.Pro176Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1265C>T
  hgvsp: ENSP00000464810.1:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.833C>T
  hgvsp: ENSP00000465762.1:p.Pro278Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1265C>T
  hgvsp: ENSP00000308528.4:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1265C>T
  hgvsp: ENSP00000475528.1:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1265C>T
  hgvsp: ENSP00000325612.1:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1265C>T
  hgvsp: ENSP00000379153.1:p.Pro422Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4681C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24414
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6961
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10720
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro422Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

19-880026-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880026
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880026
    reference: chr 19
allele count: 1
allele frequency: 9.749059215785676e-6
allele num: 102574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1264C>G
  hgvsp: ENSP00000308528.4:p.Pro422Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1264C>G
  hgvsp: ENSP00000464810.1:p.Pro422Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.525C>G
  hgvsp: ENSP00000475725.1:p.Pro176Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.832C>G
  hgvsp: ENSP00000465762.1:p.Pro278Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1264C>G
  hgvsp: ENSP00000379153.1:p.Pro422Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1264C>G
  hgvsp: ENSP00000475528.1:p.Pro422Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1264C>G
  hgvsp: ENSP00000466868.1:p.Pro422Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1264C>G
  hgvsp: ENSP00000325612.1:p.Pro422Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1264C>G
  hgvsp: ENSP00000269814.4:p.Pro422Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4682C>G
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2927
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro422Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

19-880027-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880027
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880027
    reference: chr 19
allele count: 2
allele frequency: 1.948444167332385e-5
allele num: 102646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.524C>T
  hgvsp: ENST00000607471.1:c.524C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1263C>T
  hgvsp: ENST00000589119.1:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1263C>T
  hgvsp: ENST00000395808.3:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1263C>T
  hgvsp: ENST00000592943.1:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.831C>T
  hgvsp: ENST00000586017.1:c.831C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1263C>T
  hgvsp: ENST00000312090.6:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1263C>T
  hgvsp: ENST00000325464.1:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4683C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1263C>T
  hgvsp: ENST00000606248.1:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1263C>T
  hgvsp: ENST00000269814.4:c.1263C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24148
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5620
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4507
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg421Arg
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: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP

19-880028-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880028
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880028
    reference: chr 19
allele count: 1
allele frequency: 9.745068995088486e-6
allele num: 102616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1262G>C
  hgvsp: ENSP00000308528.4:p.Arg421Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1262G>C
  hgvsp: ENSP00000464810.1:p.Arg421Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4684G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1262G>C
  hgvsp: ENSP00000269814.4:p.Arg421Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.830G>C
  hgvsp: ENSP00000465762.1:p.Arg277Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1262G>C
  hgvsp: ENSP00000466868.1:p.Arg421Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1262G>C
  hgvsp: ENSP00000325612.1:p.Arg421Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1262G>C
  hgvsp: ENSP00000475528.1:p.Arg421Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1262G>C
  hgvsp: ENSP00000379153.1:p.Arg421Pro
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.523G>C
  hgvsp: ENSP00000475725.1:p.Arg175Pro
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10792
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24142
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg421Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

19-880029-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880029
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880029
    reference: chr 19
allele count: 5
allele frequency: 4.866937917339927e-5
allele num: 102734
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1261C>T
  hgvsp: ENSP00000325612.1:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1261C>T
  hgvsp: ENSP00000464810.1:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1261C>T
  hgvsp: ENSP00000308528.4:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1261C>T
  hgvsp: ENSP00000475528.1:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1261C>T
  hgvsp: ENSP00000269814.4:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1261C>T
  hgvsp: ENSP00000379153.1:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.829C>T
  hgvsp: ENSP00000465762.1:p.Arg277Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.522C>T
  hgvsp: ENSP00000475725.1:p.Arg175Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1261C>T
  hgvsp: ENSP00000466868.1:p.Arg421Cys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4685C>T
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6868
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24364
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10898
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg421Cys
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

19-880031-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880031
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880031
    reference: chr 19
allele count: 1
allele frequency: 9.70402717127608e-6
allele num: 103050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.827A>C
  hgvsp: ENSP00000465762.1:p.Lys276Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1259A>C
  hgvsp: ENSP00000464810.1:p.Lys420Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4687A>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.520A>C
  hgvsp: ENSP00000475725.1:p.Lys174Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1259A>C
  hgvsp: ENSP00000325612.1:p.Lys420Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1259A>C
  hgvsp: ENSP00000308528.4:p.Lys420Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1259A>C
  hgvsp: ENSP00000475528.1:p.Lys420Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1259A>C
  hgvsp: ENSP00000269814.4:p.Lys420Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1259A>C
  hgvsp: ENSP00000379153.1:p.Lys420Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1259A>C
  hgvsp: ENSP00000466868.1:p.Lys420Thr
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6836
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys420Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

19-880034-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880034
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880034
    reference: chr 19
allele count: 1
allele frequency: 9.694995443352141e-6
allele num: 103146
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1256T>C
  hgvsp: ENSP00000269814.4:p.Met419Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1256T>C
  hgvsp: ENSP00000379153.1:p.Met419Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1256T>C
  hgvsp: ENSP00000466868.1:p.Met419Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1256T>C
  hgvsp: ENSP00000325612.1:p.Met419Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4690T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.517T>C
  hgvsp: ENSP00000475725.1:p.Met173Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1256T>C
  hgvsp: ENSP00000464810.1:p.Met419Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.824T>C
  hgvsp: ENSP00000465762.1:p.Met275Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1256T>C
  hgvsp: ENSP00000308528.4:p.Met419Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1256T>C
  hgvsp: ENSP00000475528.1:p.Met419Thr
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6820
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5495
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3000
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8802
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Met419Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

19-880035-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880035
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880035
    reference: chr 19
allele count: 2
allele frequency: 1.938435295029852e-5
allele num: 103176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1255A>T
  hgvsp: ENSP00000308528.4:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1255A>T
  hgvsp: ENSP00000475528.1:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1255A>T
  hgvsp: ENSP00000464810.1:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1255A>T
  hgvsp: ENSP00000269814.4:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1255A>T
  hgvsp: ENSP00000379153.1:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.823A>T
  hgvsp: ENSP00000465762.1:p.Met275Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1255A>T
  hgvsp: ENSP00000466868.1:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.516A>T
  hgvsp: ENSP00000475725.1:p.Met173Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4691A>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1255A>T
  hgvsp: ENSP00000325612.1:p.Met419Leu
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11121
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24248
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3004
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4340
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29645
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Met419Leu
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

19-880039-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880039
    reference: chr 19
allele count: 2
allele frequency: 1.937271159844243e-5
allele num: 103238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4695G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1251G>C
  hgvsp: ENST00000606248.1:c.1251G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1251G>C
  hgvsp: ENST00000395808.3:c.1251G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1251G>C
  hgvsp: ENST00000589119.1:c.1251G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1251G>C
  hgvsp: ENST00000325464.1:c.1251G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1251G>C
  hgvsp: ENST00000592943.1:c.1251G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1251G>C
  hgvsp: ENST00000312090.6:c.1251G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.512G>C
  hgvsp: ENST00000607471.1:c.512G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.819G>C
  hgvsp: ENST00000586017.1:c.819G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1251G>C
  hgvsp: ENST00000269814.4:c.1251G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11359
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro417Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD

19-880039-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880039
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880039
    reference: chr 19
allele count: 1
allele frequency: 9.686355799221217e-6
allele num: 103238
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1251G>A
  hgvsp: ENST00000589119.1:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.512G>A
  hgvsp: ENST00000607471.1:c.512G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4695G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1251G>A
  hgvsp: ENST00000606248.1:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1251G>A
  hgvsp: ENST00000312090.6:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1251G>A
  hgvsp: ENST00000269814.4:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1251G>A
  hgvsp: ENST00000395808.3:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.819G>A
  hgvsp: ENST00000586017.1:c.819G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1251G>A
  hgvsp: ENST00000592943.1:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1251G>A
  hgvsp: ENST00000325464.1:c.1251G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11359
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5449
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1388
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro417Pro
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum

19-880040-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880040
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880040
    reference: chr 19
allele count: 14
allele frequency: 1.355433351405778e-4
allele num: 103288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.818C>T
  hgvsp: ENSP00000465762.1:p.Pro273Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1250C>T
  hgvsp: ENSP00000464810.1:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1250C>T
  hgvsp: ENSP00000379153.1:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1250C>T
  hgvsp: ENSP00000269814.4:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1250C>T
  hgvsp: ENSP00000475528.1:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1250C>T
  hgvsp: ENSP00000325612.1:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4696C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1250C>T
  hgvsp: ENSP00000308528.4:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.511C>T
  hgvsp: ENSP00000475725.1:p.Pro171Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1250C>T
  hgvsp: ENSP00000466868.1:p.Pro417Leu
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6749
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5448
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23782
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro417Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

19-880041-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880041
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880041
    reference: chr 19
allele count: 1
allele frequency: 9.675671491601517e-6
allele num: 103352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1249C>G
  hgvsp: ENSP00000466868.1:p.Pro417Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1249C>G
  hgvsp: ENSP00000464810.1:p.Pro417Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.510C>G
  hgvsp: ENSP00000475725.1:p.Pro171Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1249C>G
  hgvsp: ENSP00000379153.1:p.Pro417Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1249C>G
  hgvsp: ENSP00000308528.4:p.Pro417Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1249C>G
  hgvsp: ENSP00000325612.1:p.Pro417Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4697C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1249C>G
  hgvsp: ENSP00000269814.4:p.Pro417Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.817C>G
  hgvsp: ENSP00000465762.1:p.Pro273Ala
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1249C>G
  hgvsp: ENSP00000475528.1:p.Pro417Ala
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23665
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6703
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5447
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro417Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

19-880044-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880044
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880044
    reference: chr 19
allele count: 1
allele frequency: 9.649156663707593e-6
allele num: 103636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4700G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1246G>C
  hgvsp: ENSP00000466868.1:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1246G>C
  hgvsp: ENSP00000379153.1:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1246G>C
  hgvsp: ENSP00000464810.1:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.507G>C
  hgvsp: ENSP00000475725.1:p.Glu170Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1246G>C
  hgvsp: ENSP00000269814.4:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.814G>C
  hgvsp: ENSP00000465762.1:p.Glu272Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1246G>C
  hgvsp: ENSP00000308528.4:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1246G>C
  hgvsp: ENSP00000475528.1:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1246G>C
  hgvsp: ENSP00000325612.1:p.Glu416Gln
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Glu416Gln
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

19-880045-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880045
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880045
    reference: chr 19
allele count: 1
allele frequency: 9.635396592923764e-6
allele num: 103784
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1245T>C
  hgvsp: ENST00000589119.1:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1245T>C
  hgvsp: ENST00000606248.1:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4701T>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1245T>C
  hgvsp: ENST00000395808.3:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.813T>C
  hgvsp: ENST00000586017.1:c.813T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1245T>C
  hgvsp: ENST00000325464.1:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.506T>C
  hgvsp: ENST00000607471.1:c.506T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1245T>C
  hgvsp: ENST00000312090.6:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1245T>C
  hgvsp: ENST00000269814.4:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1245T>C
  hgvsp: ENST00000592943.1:c.1245T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 793
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp415Asp
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

19-880054-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880054
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880054
    reference: chr 19
allele count: 1
allele frequency: 9.635210914766924e-6
allele num: 103786
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1236G>A
  hgvsp: ENST00000589119.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1236G>A
  hgvsp: ENST00000606248.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.497G>A
  hgvsp: ENST00000607471.1:c.497G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4710G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1236G>A
  hgvsp: ENST00000269814.4:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1236G>A
  hgvsp: ENST00000325464.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1236G>A
  hgvsp: ENST00000395808.3:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1236G>A
  hgvsp: ENST00000312090.6:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1236G>A
  hgvsp: ENST00000592943.1:c.1236G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.804G>A
  hgvsp: ENST00000586017.1:c.804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5615
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg412Arg
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

19-880055-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880055
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880055
    reference: chr 19
allele count: 1
allele frequency: 9.640226738132882e-6
allele num: 103732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1235G>A
  hgvsp: ENSP00000466868.1:p.Arg412Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1235G>A
  hgvsp: ENSP00000475528.1:p.Arg412Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.496G>A
  hgvsp: ENSP00000475725.1:p.Arg166Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1235G>A
  hgvsp: ENSP00000325612.1:p.Arg412Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1235G>A
  hgvsp: ENSP00000379153.1:p.Arg412Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1235G>A
  hgvsp: ENSP00000308528.4:p.Arg412Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.803G>A
  hgvsp: ENSP00000465762.1:p.Arg268Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1235G>A
  hgvsp: ENSP00000464810.1:p.Arg412Lys
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4711G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1235G>A
  hgvsp: ENSP00000269814.4:p.Arg412Lys
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3198
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5712
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6693
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11886
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1976
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg412Lys
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

19-880057-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880057
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880057
    reference: chr 19
allele count: 413
allele frequency: 3.983564180716849e-3
allele num: 103676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.494G>A
  hgvsp: ENST00000607471.1:c.494G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4713G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.801G>A
  hgvsp: ENST00000586017.1:c.801G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1233G>A
  hgvsp: ENST00000269814.4:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1233G>A
  hgvsp: ENST00000325464.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1233G>A
  hgvsp: ENST00000589119.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1233G>A
  hgvsp: ENST00000592943.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1233G>A
  hgvsp: ENST00000606248.1:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1233G>A
  hgvsp: ENST00000312090.6:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1233G>A
  hgvsp: ENST00000395808.3:c.1233G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5778
  bin: 1.75e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6572
  bin: 7.5e0
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 1.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22177
  bin: 2.25e1
  variant carriers: 72
genotype depth: GenotypeDepth
  all individuals: 11872
  bin: 2.75e1
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 3.75e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3245
  bin: 3.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 9.25e1
  variant carriers: 4
hgvs: p.Pro411Pro
num of homozygotes: 11
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

19-880058-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880058
    reference: chr 19
allele count: 3
allele frequency: 2.885114731395818e-5
allele num: 103982
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1232C>T
  hgvsp: ENSP00000325612.1:p.Pro411Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.800C>T
  hgvsp: ENSP00000465762.1:p.Pro267Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4714C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1232C>T
  hgvsp: ENSP00000466868.1:p.Pro411Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1232C>T
  hgvsp: ENSP00000269814.4:p.Pro411Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1232C>T
  hgvsp: ENSP00000475528.1:p.Pro411Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1232C>T
  hgvsp: ENSP00000308528.4:p.Pro411Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1232C>T
  hgvsp: ENSP00000379153.1:p.Pro411Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.493C>T
  hgvsp: ENSP00000475725.1:p.Pro165Leu
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1232C>T
  hgvsp: ENSP00000464810.1:p.Pro411Leu
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22431
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro411Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

19-880058-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880058
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880058
    reference: chr 19
allele count: 3
allele frequency: 2.885114731395818e-5
allele num: 103982
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.493C>G
  hgvsp: ENSP00000475725.1:p.Pro165Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1232C>G
  hgvsp: ENSP00000464810.1:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.800C>G
  hgvsp: ENSP00000465762.1:p.Pro267Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1232C>G
  hgvsp: ENSP00000308528.4:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1232C>G
  hgvsp: ENSP00000269814.4:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1232C>G
  hgvsp: ENSP00000475528.1:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1232C>G
  hgvsp: ENSP00000379153.1:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1232C>G
  hgvsp: ENSP00000325612.1:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4714C>G
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1232C>G
  hgvsp: ENSP00000466868.1:p.Pro411Arg
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22431
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5607
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3234
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2250
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro411Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

19-880061-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880061
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880061
    reference: chr 19
allele count: 9
allele frequency: 8.633259151254701e-5
allele num: 104248
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1229C>A
  hgvsp: ENSP00000269814.4:p.Ala410Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1229C>A
  hgvsp: ENSP00000325612.1:p.Ala410Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1229C>A
  hgvsp: ENSP00000379153.1:p.Ala410Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1229C>A
  hgvsp: ENSP00000475528.1:p.Ala410Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1229C>A
  hgvsp: ENSP00000466868.1:p.Ala410Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1229C>A
  hgvsp: ENSP00000464810.1:p.Ala410Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4717C>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.797C>A
  hgvsp: ENSP00000465762.1:p.Ala266Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.490C>A
  hgvsp: ENSP00000475725.1:p.Ala164Asp
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1229C>A
  hgvsp: ENSP00000308528.4:p.Ala410Asp
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3199
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5379
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11965
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala410Asp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/19-880062-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880062
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880062
    reference: chr 19
allele count: 2
allele frequency: 1.919385796545106e-5
allele num: 104200
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1228G>T
  hgvsp: ENSP00000325612.1:p.Ala410Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.796G>T
  hgvsp: ENSP00000465762.1:p.Ala266Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4718G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1228G>T
  hgvsp: ENSP00000269814.4:p.Ala410Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.489G>T
  hgvsp: ENSP00000475725.1:p.Ala164Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1228G>T
  hgvsp: ENSP00000379153.1:p.Ala410Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1228G>T
  hgvsp: ENSP00000464810.1:p.Ala410Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1228G>T
  hgvsp: ENSP00000308528.4:p.Ala410Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1228G>T
  hgvsp: ENSP00000475528.1:p.Ala410Ser
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1228G>T
  hgvsp: ENSP00000466868.1:p.Ala410Ser
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22821
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1857
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala410Ser
num of homozygotes: 1
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/19-880063-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880063
    reference: chr 19
allele count: 1
allele frequency: 9.591958102327009e-6
allele num: 104254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.795G>T
  hgvsp: ENST00000586017.1:c.795G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1227G>T
  hgvsp: ENST00000312090.6:c.1227G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1227G>T
  hgvsp: ENST00000395808.3:c.1227G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4719G>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1227G>T
  hgvsp: ENST00000269814.4:c.1227G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1227G>T
  hgvsp: ENST00000325464.1:c.1227G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.488G>T
  hgvsp: ENST00000607471.1:c.488G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1227G>T
  hgvsp: ENST00000592943.1:c.1227G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1227G>T
  hgvsp: ENST00000606248.1:c.1227G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1227G>T
  hgvsp: ENST00000589119.1:c.1227G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala409Ala
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ

19-880063-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880063
    reference: chr 19
allele count: 5
allele frequency: 4.795979051163505e-5
allele num: 104254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4719G>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1227G>C
  hgvsp: ENST00000606248.1:c.1227G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1227G>C
  hgvsp: ENST00000325464.1:c.1227G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1227G>C
  hgvsp: ENST00000589119.1:c.1227G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.795G>C
  hgvsp: ENST00000586017.1:c.795G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1227G>C
  hgvsp: ENST00000269814.4:c.1227G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.488G>C
  hgvsp: ENST00000607471.1:c.488G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1227G>C
  hgvsp: ENST00000312090.6:c.1227G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1227G>C
  hgvsp: ENST00000592943.1:c.1227G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1227G>C
  hgvsp: ENST00000395808.3:c.1227G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1850
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala409Ala
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

19-880063-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880063
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880063
    reference: chr 19
allele count: 3
allele frequency: 2.877587430698103e-5
allele num: 104254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1227G>A
  hgvsp: ENST00000606248.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1227G>A
  hgvsp: ENST00000269814.4:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1227G>A
  hgvsp: ENST00000325464.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4719G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.795G>A
  hgvsp: ENST00000586017.1:c.795G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1227G>A
  hgvsp: ENST00000312090.6:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1227G>A
  hgvsp: ENST00000589119.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.488G>A
  hgvsp: ENST00000607471.1:c.488G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1227G>A
  hgvsp: ENST00000395808.3:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1227G>A
  hgvsp: ENST00000592943.1:c.1227G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11980
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22882
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5312
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1658
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala409Ala
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

19-880064-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880064
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880064
    reference: chr 19
allele count: 1
allele frequency: 9.592510168060779e-6
allele num: 104248
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1226C>G
  hgvsp: ENSP00000308528.4:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1226C>G
  hgvsp: ENSP00000325612.1:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1226C>G
  hgvsp: ENSP00000475528.1:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1226C>G
  hgvsp: ENSP00000466868.1:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1226C>G
  hgvsp: ENSP00000269814.4:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.487C>G
  hgvsp: ENSP00000475725.1:p.Ala163Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.794C>G
  hgvsp: ENSP00000465762.1:p.Ala265Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1226C>G
  hgvsp: ENSP00000464810.1:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1226C>G
  hgvsp: ENSP00000379153.1:p.Ala409Gly
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4720C>G
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12034
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22988
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8621
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala409Gly
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum

19-880065-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880065
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880065
    reference: chr 19
allele count: 1
allele frequency: 9.572675754326849e-6
allele num: 104464
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1225G>A
  hgvsp: ENSP00000379153.1:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1225G>A
  hgvsp: ENSP00000308528.4:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1225G>A
  hgvsp: ENSP00000325612.1:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1225G>A
  hgvsp: ENSP00000269814.4:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.793G>A
  hgvsp: ENSP00000465762.1:p.Ala265Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1225G>A
  hgvsp: ENSP00000466868.1:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1225G>A
  hgvsp: ENSP00000464810.1:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1225G>A
  hgvsp: ENSP00000475528.1:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4721G>A
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.486G>A
  hgvsp: ENSP00000475725.1:p.Ala163Thr
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23118
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala409Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

19-880066-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880066
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880066
    reference: chr 19
allele count: 23184
allele frequency: 2.190103723856487e-1
allele num: 105858
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.485C>T
  hgvsp: ENST00000607471.1:c.485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1224C>T
  hgvsp: ENST00000312090.6:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1224C>T
  hgvsp: ENST00000592943.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1224C>T
  hgvsp: ENST00000269814.4:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.792C>T
  hgvsp: ENST00000586017.1:c.792C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4722C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1224C>T
  hgvsp: ENST00000395808.3:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1224C>T
  hgvsp: ENST00000589119.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1224C>T
  hgvsp: ENST00000606248.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1224C>T
  hgvsp: ENST00000325464.1:c.1224C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 192
genotype depth: GenotypeDepth
  all individuals: 5523
  bin: 7.5e0
  variant carriers: 630
genotype depth: GenotypeDepth
  all individuals: 11308
  bin: 2.75e1
  variant carriers: 3583
genotype depth: GenotypeDepth
  all individuals: 4463
  bin: 3.25e1
  variant carriers: 2817
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 7.25e1
  variant carriers: 166
genotype depth: GenotypeDepth
  all individuals: 19080
  bin: 2.25e1
  variant carriers: 3513
genotype depth: GenotypeDepth
  all individuals: 4855
  bin: 1.25e1
  variant carriers: 1396
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 2.5e0
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 9.75e1
  variant carriers: 932
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 5.25e1
  variant carriers: 284
genotype depth: GenotypeDepth
  all individuals: 5627
  bin: 1.75e1
  variant carriers: 2601
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.75e1
  variant carriers: 196
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 4.25e1
  variant carriers: 1031
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 162
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 2557
  bin: 3.75e1
  variant carriers: 1898
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 6.25e1
  variant carriers: 189
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 184
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.75e1
  variant carriers: 528
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 310
hgvs: p.Ser408Ser
num of homozygotes: 3263
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

19-880071-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880071
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880071
    reference: chr 19
allele count: 1
allele frequency: 9.531252978516555e-6
allele num: 104918
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1219A>C
  hgvsp: ENSP00000475528.1:p.Ser407Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1219A>C
  hgvsp: ENSP00000325612.1:p.Ser407Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1219A>C
  hgvsp: ENSP00000308528.4:p.Ser407Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4727A>C
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.787A>C
  hgvsp: ENSP00000465762.1:p.Ser263Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1219A>C
  hgvsp: ENSP00000379153.1:p.Ser407Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1219A>C
  hgvsp: ENSP00000464810.1:p.Ser407Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1219A>C
  hgvsp: ENSP00000466868.1:p.Ser407Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1219A>C
  hgvsp: ENSP00000269814.4:p.Ser407Arg
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.480A>C
  hgvsp: ENSP00000475725.1:p.Ser161Arg
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6448
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4580
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30598
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser407Arg
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

19-880072-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 880072
    reference: chr 19
  end: Position
    type: ExactPosition
    position: 880072
    reference: chr 19
allele count: 2
allele frequency: 1.909636023373945e-5
allele num: 104732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000269814
  ensembl transcript: ENST00000269814
  gene symbol: MED16
  hgvsc: ENST00000269814.4:c.1218C>T
  hgvsp: ENST00000269814.4:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475528
  ensembl transcript: ENST00000606248
  gene symbol: MED16
  hgvsc: ENST00000606248.1:c.1218C>T
  hgvsp: ENST00000606248.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000465762
  ensembl transcript: ENST00000586017
  gene symbol: MED16
  hgvsc: ENST00000586017.1:c.786C>T
  hgvsp: ENST00000586017.1:c.786C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000308528
  ensembl transcript: ENST00000312090
  gene symbol: MED16
  hgvsc: ENST00000312090.6:c.1218C>T
  hgvsp: ENST00000312090.6:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000464810
  ensembl transcript: ENST00000589119
  gene symbol: MED16
  hgvsc: ENST00000589119.1:c.1218C>T
  hgvsp: ENST00000589119.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000325612
  ensembl transcript: ENST00000325464
  gene symbol: MED16
  hgvsc: ENST00000325464.1:c.1218C>T
  hgvsp: ENST00000325464.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000475725
  ensembl transcript: ENST00000607471
  gene symbol: MED16
  hgvsc: ENST00000607471.1:c.479C>T
  hgvsp: ENST00000607471.1:c.479C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000379153
  ensembl transcript: ENST00000395808
  gene symbol: MED16
  hgvsc: ENST00000395808.3:c.1218C>T
  hgvsp: ENST00000395808.3:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175221
  ensembl transcript: ENST00000606828
  gene symbol: MED16
  hgvsc: ENST00000606828.1:n.46-4728C>T
  variant of: http://identifiers.org/hgnc/17556
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175221
  ensembl protein: ENSP00000466868
  ensembl transcript: ENST00000592943
  gene symbol: MED16
  hgvsc: ENST00000592943.1:c.1218C>T
  hgvsp: ENST00000592943.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17556
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4703
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr406Tyr
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2865
bin: 9.75e1
variant carriers: 22

GenotypeQuality
all individuals: 500
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3177
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16248
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13522
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 440
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1960
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2316
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3138
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 15
allele frequency: 2.198768689533861e-3
allele num: 6822
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 5.003752814610958e-4
allele num: 7994
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47770
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13008
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4132
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.629e1

MQRankSum
type: SiteQuality
SIO_000300: -1.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

DP
type: SiteQuality
SIO_000300: 1.11994e6

FS
type: SiteQuality
SIO_000300: 2.665e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.526e0

GenotypeQuality
all individuals: 581
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 4

GenotypeQuality
all individuals: 936
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2952
bin: 7.5e0
variant carriers: 8

GenotypeQuality
all individuals: 1430
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1869
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2606
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 1.25e1
variant carriers: 7

GenotypeQuality
all individuals: 14968
bin: 2.25e1
variant carriers: 6

GenotypeQuality
all individuals: 1796
bin: 4.75e1
variant carriers: 6

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 1733
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 500
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11095
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1619
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 3250
bin: 2.75e1
variant carriers: 8

GenotypeQuality
all individuals: 3318
bin: 3.25e1
variant carriers: 6

GenotypeQuality
all individuals: 504
bin: 9.75e1
variant carriers: 93

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

African
type: Population
allele count: 31
allele frequency: 5.871212121212121e-3
allele num: 5280
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.055611729019212e-4
allele num: 5934
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 7.591779187679627e-4
allele num: 36882
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.46756677428823e-4
allele num: 6814
num of homozygotes: 0

South Asian
type: Population
allele count: 80
allele frequency: 9.352349777881692e-3
allele num: 8554
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.18e-1

FS
type: SiteQuality
SIO_000300: 2.117e0

QD
type: SiteQuality
SIO_000300: 5.01e0

VQSLOD
type: SiteQuality
SIO_000300: -1.376e0

MQ
type: SiteQuality
SIO_000300: 5.763e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.24e0

DP
type: SiteQuality
SIO_000300: 1.144289e6

GenotypeQuality
all individuals: 1389
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 942
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variant carriers: 0

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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3692
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variant carriers: 0

GenotypeQuality
all individuals: 3389
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 7.138777841233581e-4
allele num: 7004
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4256
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.835e1

FS
type: SiteQuality
SIO_000300: 5.875e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.7e-3

QD
type: SiteQuality
SIO_000300: 6.16e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.929e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 1.131882e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.368e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 1589
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variant carriers: 1

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
all individuals: 2572
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 3.467406380027739e-4
allele num: 5768
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 1.219690686441918e-4
allele num: 40994
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3238
num of homozygotes: 0

South Asian
type: Population
allele count: 23
allele frequency: 2.467811158798283e-3
allele num: 9320
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.614e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.915e0

FS
type: SiteQuality
SIO_000300: 3.7991e1

MQ
type: SiteQuality
SIO_000300: 5.643e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.39e-2

DP
type: SiteQuality
SIO_000300: 1.151661e6

VQSLOD
type: SiteQuality
SIO_000300: -1.036e1

QD
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

GenotypeQuality
all individuals: 686
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variant carriers: 0

GenotypeQuality
all individuals: 1713
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 854
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GenotypeQuality
all individuals: 933
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6906
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.281542322610084e-4
allele num: 8766
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7072
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4228
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.152e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.090000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.906e1

FS
type: SiteQuality
SIO_000300: 4.165e0

DP
type: SiteQuality
SIO_000300: 1.152946e6

QD
type: SiteQuality
SIO_000300: 9.83e0

GenotypeQuality
all individuals: 1527
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13789
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 653
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variant carriers: 0

GenotypeQuality
all individuals: 3141
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variant carriers: 0

GenotypeQuality
all individuals: 1900
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GenotypeQuality
all individuals: 793
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 18494
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GenotypeQuality
all individuals: 727
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GenotypeQuality
all individuals: 1166
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variant carriers: 0

GenotypeQuality
all individuals: 3214
bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.498800959232614e-4
allele num: 6672
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 626
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48308
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.622e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.16e0

VQSLOD
type: SiteQuality
SIO_000300: -4.177e0

DP
type: SiteQuality
SIO_000300: 1.159188e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.182e0

MQRankSum
type: SiteQuality
SIO_000300: -2.773e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.82e0

GenotypeQuality
all individuals: 458
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variant carriers: 0

GenotypeQuality
all individuals: 1503
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 970
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GenotypeQuality
all individuals: 3133
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.132105240714682e-5
allele num: 46902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

FS
type: SiteQuality
SIO_000300: 6.751e0

DP
type: SiteQuality
SIO_000300: 1.163084e6

QD
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BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: -2.728e0

ReadPosRankSum
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SIO_000300: -2.105e0

MQ
type: SiteQuality
SIO_000300: 5.631e1

VQSLOD
type: SiteQuality
SIO_000300: -3.198e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.543686322939179e-4
allele num: 6478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11582
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3794
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.751e0

MQRankSum
type: SiteQuality
SIO_000300: -2.728e0

DP
type: SiteQuality
SIO_000300: 1.163084e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.631e1

QD
type: SiteQuality
SIO_000300: 6.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.48e-1

VQSLOD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -2.105e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 432
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.398601398601399e-4
allele num: 7150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7238
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.03e1

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -4.21e-1

ClippingRankSum
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SIO_000300: -4.1e-2

FS
type: SiteQuality
SIO_000300: 3.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

GenotypeQuality
all individuals: 13271
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2923
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1043
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2795
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13146
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7306
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.943839722353684e-5
allele num: 50712
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.8e-2

FS
type: SiteQuality
SIO_000300: 2.884e0

VQSLOD
type: SiteQuality
SIO_000300: 8.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.85e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

DP
type: SiteQuality
SIO_000300: 1.172868e6

GenotypeQuality
all individuals: 2776
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1003
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1288
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variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7420
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.068147831659902e-4
allele num: 9362
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4516
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.714e1

MQ
type: SiteQuality
SIO_000300: 5.933e1

DP
type: SiteQuality
SIO_000300: 1.180352e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.397e0

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 2.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.099999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.98e-1

GenotypeQuality
all individuals: 3669
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
all individuals: 853
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variant carriers: 0

GenotypeQuality
all individuals: 2138
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.460920379839299e-4
allele num: 13690
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52436
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4394
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 682
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.88e0

VQSLOD
type: SiteQuality
SIO_000300: -8.018999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.694e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQ
type: SiteQuality
SIO_000300: 5.911e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.187707e6

GenotypeQuality
all individuals: 2308
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26717
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3972
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variant carriers: 0

GenotypeQuality
all individuals: 1313
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1414
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1224
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variant carriers: 0

GenotypeQuality
all individuals: 955
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variant carriers: 4

GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 342
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variant carriers: 0

GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 414
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variant carriers: 0

GenotypeQuality
all individuals: 1032
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variant carriers: 0

GenotypeQuality
all individuals: 986
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.141836880445651e-5
allele num: 14002
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 702
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.570203126740689e-5
allele num: 53858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7360
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9648
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.212014e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 5.563e0

QD
type: SiteQuality
SIO_000300: 1.203e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 423
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
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variant carriers: 0

GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
all individuals: 247
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variant carriers: 0

GenotypeQuality
all individuals: 895
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1120
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variant carriers: 0

GenotypeQuality
all individuals: 409
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variant carriers: 0

GenotypeQuality
all individuals: 1653
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variant carriers: 0

GenotypeQuality
all individuals: 27859
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1436
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GenotypeQuality
all individuals: 960
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
all individuals: 1258
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GenotypeQuality
all individuals: 714
bin: 8.25e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14132
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 4.034427111350188e-4
allele num: 7436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4660
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.835199119104423e-5
allele num: 54490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.875e1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

DP
type: SiteQuality
SIO_000300: 1.228596e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 1.3089e1

VQSLOD
type: SiteQuality
SIO_000300: -1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 960
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variant carriers: 4

GenotypeQuality
all individuals: 346
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variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.026753141467369e-4
allele num: 9868
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.650567663271639e-5
allele num: 54786
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4720
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 706
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.238756e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

FS
type: SiteQuality
SIO_000300: 4.144e0

VQSLOD
type: SiteQuality
SIO_000300: 9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.48e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 728
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variant carriers: 0

GenotypeQuality
all individuals: 1390
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.796557795264274e-5
allele num: 55662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.282e0

QD
type: SiteQuality
SIO_000300: 7.2e0

FS
type: SiteQuality
SIO_000300: 1.026e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.554e1

DP
type: SiteQuality
SIO_000300: 1.25997e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 965
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GenotypeQuality
all individuals: 1467
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GenotypeQuality
all individuals: 4179
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GenotypeQuality
all individuals: 1275
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GenotypeQuality
all individuals: 726
bin: 4.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14492
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.796299622777079e-5
allele num: 55670
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7532
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.63e0

FS
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 1.477e1

DP
type: SiteQuality
SIO_000300: 1.254193e6

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 9.25e1
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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
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10108
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 55546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.329787234042553e-4
allele num: 7520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14502
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

FS
type: SiteQuality
SIO_000300: 4.994e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.625e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.252311e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

GenotypeQuality
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bin: 2.25e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 480
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.889240506329114e-5
allele num: 10112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

DP
type: SiteQuality
SIO_000300: 1.25352e6

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 8.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 27923
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7526
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.894649751792609e-5
allele num: 14504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.92e-1

DP
type: SiteQuality
SIO_000300: 1.25352e6

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

FS
type: SiteQuality
SIO_000300: 8.74e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.64e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 581
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.802321389950256e-5
allele num: 55484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.754e0

MQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

BaseQRankSum
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SIO_000300: -1.137e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

QD
type: SiteQuality
SIO_000300: 1.316e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e-1

DP
type: SiteQuality
SIO_000300: 1.251958e6

MQ
type: SiteQuality
SIO_000300: 5.79e1

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 4

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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bin: 6.75e1
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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: 729
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.064125498830329e-4
allele num: 14534
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.799856011519078e-5
allele num: 55560
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.511e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

DP
type: SiteQuality
SIO_000300: 1.252719e6

MQ
type: SiteQuality
SIO_000300: 5.948e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 2
allele frequency: 1.376083665886886e-4
allele num: 14534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55560
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7892
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7494
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.511e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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MQ
type: SiteQuality
SIO_000300: 5.948e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 355
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7380
num of homozygotes: 0

East Asian
type: Population
allele count: 5
allele frequency: 6.341958396752917e-4
allele num: 7884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4846
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.955696202531646e-4
allele num: 10112
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.076477614101126e-4
allele num: 55258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.207e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.75e-1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 4.75e1
variant carriers: 0

South Asian
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allele count: 1
allele frequency: 6.854949273375377e-5
allele num: 14588
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.263902932254803e-4
allele num: 7912
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4878
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.690341673392521e-4
allele num: 7434
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.802776275464215e-5
allele num: 55470
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.19e1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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SIO_000300: -1.127e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.802776275464215e-5
allele num: 55470
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4878
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

DP
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.874e1

FS
type: SiteQuality
SIO_000300: 6.616e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10150
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.808645324651836e-5
allele num: 55290
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 frequency: 0.0e0
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -5.3e-3

DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.42e-1

ClippingRankSum
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SIO_000300: -3.54e-1

ReadPosRankSum
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SIO_000300: 7.07e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

VQSLOD
type: SiteQuality
SIO_000300: -1.314e0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14558
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.253778e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 7.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

FS
type: SiteQuality
SIO_000300: 1.779e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7904
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

QD
type: SiteQuality
SIO_000300: 7.64e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 1.779e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.61e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

GenotypeQuality
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variant carriers: 0

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

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: 14634
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7938
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.192692224699705e-5
allele num: 55612
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.803921568627451e-5
allele num: 10200
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.55e-1

BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 1.256769e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 20

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14670
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7488
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 3.050640634533252e-4
allele num: 55726
num of homozygotes: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.930259816370385e-4
allele num: 10238
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.34e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4870
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.811989100817439e-5
allele num: 14680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.590019745108598e-5
allele num: 55710
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.103e-1

DP
type: SiteQuality
SIO_000300: 1.256539e6

FS
type: SiteQuality
SIO_000300: 6.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.98e-1

MQ
type: SiteQuality
SIO_000300: 5.887e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

QD
type: SiteQuality
SIO_000300: 1.023e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2188
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.809206046574969e-5
allele num: 14686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7452
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7946
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.658e0

DP
type: SiteQuality
SIO_000300: 1.257797e6

ClippingRankSum
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SIO_000300: 3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.394e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.49e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 984
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55774
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4868
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.514458134272064e-4
allele num: 7954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14720
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10254
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7472
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.2e-3

FS
type: SiteQuality
SIO_000300: 1.817e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.258295e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 450
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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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GenotypeQuality
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GenotypeQuality
all individuals: 28904
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GenotypeQuality
all individuals: 363
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 720
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.37904324750771e-5
allele num: 55772
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.748488984207447e-5
allele num: 10258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 2.05761316872428e-4
allele num: 4860
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.796248470844094e-5
allele num: 14714
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQ
type: SiteQuality
SIO_000300: 5.891e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.89e-1

DP
type: SiteQuality
SIO_000300: 1.259982e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.79e-1

QD
type: SiteQuality
SIO_000300: 1.219e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.68e-1

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 152
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 751
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14732
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4862
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.875195007800312e-4
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.789420943382721e-5
allele num: 55884
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.338688085676038e-4
allele num: 7470
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.6e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

FS
type: SiteQuality
SIO_000300: 1.088e0

DP
type: SiteQuality
SIO_000300: 1.260293e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-1

QD
type: SiteQuality
SIO_000300: 1.277e1

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.788716774585912e-5
allele num: 55906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4858
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14744
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.263e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 1.262455e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 6.77323218639935e-5
allele num: 14764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.57321517901808e-5
allele num: 55972
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.731413001167769e-5
allele num: 10276
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4868
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 7508
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East Asian
type: Population
allele count: 1
allele frequency: 1.255020080321285e-4
allele num: 7968
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.012e0

DP
type: SiteQuality
SIO_000300: 1.263908e6

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
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: 4878
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.142091918722994e-5
allele num: 56006
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7984
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.53e-1

ClippingRankSum
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SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.267519e6

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: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 447
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 5.25e1
variant carriers: 1

Latino
type: Population
allele count: 2
allele frequency: 1.939111886755866e-4
allele num: 10314
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 1.196172248803828e-3
allele num: 7524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56050
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.56e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -5.768e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

QD
type: SiteQuality
SIO_000300: 1.337e1

MQRankSum
type: SiteQuality
SIO_000300: 2.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.826e1

DP
type: SiteQuality
SIO_000300: 1.270344e6

GenotypeQuality
all individuals: 972
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4451
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.738544474393532e-5
allele num: 14840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.46e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.366e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.580000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.271888e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-1

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7544
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4906
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.248127808287569e-4
allele num: 8012
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 1.455e0

MQ
type: SiteQuality
SIO_000300: 5.779e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.3e-2

DP
type: SiteQuality
SIO_000300: 1.26954e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1592
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 713
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variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.555176336746302e-5
allele num: 56256
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7552
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14852
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8014
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.199999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 1.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.139e1

DP
type: SiteQuality
SIO_000300: 1.270393e6

GenotypeQuality
all individuals: 727
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 461
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variant carriers: 0

GenotypeQuality
all individuals: 4377
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variant carriers: 0

GenotypeQuality
all individuals: 28931
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variant carriers: 0

GenotypeQuality
all individuals: 1950
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GenotypeQuality
all individuals: 768
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 739
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variant carriers: 0

GenotypeQuality
all individuals: 2145
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1082
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.778283600668635e-5
allele num: 56234
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7556
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

QD
type: SiteQuality
SIO_000300: 8.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.13e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.98e-1

FS
type: SiteQuality
SIO_000300: 3.382e0

DP
type: SiteQuality
SIO_000300: 1.272673e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

GenotypeQuality
all individuals: 764
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4920
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.724045185583647e-5
allele num: 14872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.108583614714768e-5
allele num: 56270
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.81e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

FS
type: SiteQuality
SIO_000300: 6.01e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

DP
type: SiteQuality
SIO_000300: 1.276973e6

QD
type: SiteQuality
SIO_000300: 1.228e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.63e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1406
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56464
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.245019920318725e-4
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4924
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.278684e6

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
SIO_000300: 1.182e0

MQRankSum
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SIO_000300: 5.8e-2

VQSLOD
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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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GenotypeQuality
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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: 1
allele frequency: 6.696129637069774e-5
allele num: 14934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8050
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

DP
type: SiteQuality
SIO_000300: 1.280052e6

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.723e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.939e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.028e1

GenotypeQuality
all individuals: 8774
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 777
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1004
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1030
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.636435539151068e-4
allele num: 7586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56524
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10412
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

QD
type: SiteQuality
SIO_000300: 1.577e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.077e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

DP
type: SiteQuality
SIO_000300: 1.280794e6

MQ
type: SiteQuality
SIO_000300: 5.883e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10448
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.769723569178494e-5
allele num: 56506
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.312335958005249e-4
allele num: 7620
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.918e1

FS
type: SiteQuality
SIO_000300: 8.534000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.215e0

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

DP
type: SiteQuality
SIO_000300: 1.285422e6

VQSLOD
type: SiteQuality
SIO_000300: -1.217e0

QD
type: SiteQuality
SIO_000300: 1.374e1

GenotypeQuality
all individuals: 8745
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4447
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
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variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8036
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.769723569178494e-5
allele num: 56506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.374e1

FS
type: SiteQuality
SIO_000300: 8.534000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.91e-1

DP
type: SiteQuality
SIO_000300: 1.285422e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.215e0

MQ
type: SiteQuality
SIO_000300: 5.918e1

VQSLOD
type: SiteQuality
SIO_000300: -1.217e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeQuality
all individuals: 784
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 14

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 454
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.870264064293915e-4
allele num: 10452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7624
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.366120218579235e-3
allele num: 732
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.769660932965244e-5
allele num: 56508
num of homozygotes: 0

South Asian
type: Population
allele count: 9
allele frequency: 6.011220945765428e-4
allele num: 14972
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.48e-1

DP
type: SiteQuality
SIO_000300: 1.286588e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 1.909e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.71e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8062
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.684491978609626e-5
allele num: 14960
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 736
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.288e6

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15018
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.763979537837361e-5
allele num: 56690
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.115e0

QD
type: SiteQuality
SIO_000300: 3.31e1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQ
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InbreedingCoeff
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SIO_000300: -3.1e-3

VQSLOD
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ReadPosRankSum
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.289004e6

ClippingRankSum
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SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 923
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.525623928367309e-5
allele num: 10498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4956
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15034
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56776
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

MQ
type: SiteQuality
SIO_000300: 5.993e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

DP
type: SiteQuality
SIO_000300: 1.291263e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 7.26e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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bin: 5.25e1
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7724
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.234872808100766e-4
allele num: 8098
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56766
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

MQ
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DP
type: SiteQuality
SIO_000300: 1.290081e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

FS
type: SiteQuality
SIO_000300: 1.484e0

QD
type: SiteQuality
SIO_000300: 1.026e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.339e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e0

GenotypeQuality
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bin: 4.25e1
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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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7714
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56710
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.651589729945457e-5
allele num: 15034
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10500
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.878e1

QD
type: SiteQuality
SIO_000300: 1.009e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 4.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

DP
type: SiteQuality
SIO_000300: 1.288481e6

GenotypeQuality
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bin: 7.5e0
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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variant carriers: 6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 373

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15020
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.238803125595578e-3
allele num: 10494
num of homozygotes: 0

African
type: Population
allele count: 395
allele frequency: 5.061506919528447e-2
allele num: 7804
num of homozygotes: 11

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.064891024055954e-5
allele num: 56618
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.36986301369863e-3
allele num: 730
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4908
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
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SIO_000300: 1.292512e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.58e-2

BaseQRankSum
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SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-2

QD
type: SiteQuality
SIO_000300: 1.288e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1449
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759633996128805e-5
allele num: 56830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.470355731225296e-4
allele num: 8096
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.738e0

QD
type: SiteQuality
SIO_000300: 1.227e1

VQSLOD
type: SiteQuality
SIO_000300: -3.334e-1

MQRankSum
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BaseQRankSum
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SIO_000300: -8.9e-1

DP
type: SiteQuality
SIO_000300: 1.294038e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.83e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8096
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.902225603956629e-4
allele num: 10514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.759633996128805e-5
allele num: 56830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4944
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

QD
type: SiteQuality
SIO_000300: 1.227e1

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.738e0

DP
type: SiteQuality
SIO_000300: 1.294038e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

MQ
type: SiteQuality
SIO_000300: 5.83e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.05e-1

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7866
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8104
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 8.55025650769523e-4
allele num: 10526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57000
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 732
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.291e0

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

DP
type: SiteQuality
SIO_000300: 1.296001e6

MQ
type: SiteQuality
SIO_000300: 5.922e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7864
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.467917077986179e-4
allele num: 8104
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56968
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15062
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.297059e6

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
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MQRankSum
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: 2.96e-1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15080
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755124964897501e-5
allele num: 56976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10546
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.05e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

FS
type: SiteQuality
SIO_000300: 2.011e0

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

DP
type: SiteQuality
SIO_000300: 1.298443e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.102e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

GenotypeQuality
all individuals: 1546
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8645
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 9.482268158543523e-5
allele num: 10546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.63129973474801e-5
allele num: 15080
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.510249929795001e-5
allele num: 56976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.23334977799704e-4
allele num: 8108
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.05e-2

QD
type: SiteQuality
SIO_000300: 1.102e1

FS
type: SiteQuality
SIO_000300: 2.011e0

DP
type: SiteQuality
SIO_000300: 1.298443e6

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

GenotypeQuality
all individuals: 1850
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1134
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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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bin: 2.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 293
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1036
bin: 9.75e1
variant carriers: 2

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56976
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8108
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.989389920424403e-4
allele num: 15080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10546
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.32e-1

DP
type: SiteQuality
SIO_000300: 1.298443e6

VQSLOD
type: SiteQuality
SIO_000300: -9.05e-2

FS
type: SiteQuality
SIO_000300: 2.011e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.17e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.13e-2

QD
type: SiteQuality
SIO_000300: 1.102e1

GenotypeQuality
all individuals: 4417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1102
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GenotypeQuality
all individuals: 1527
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1033
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 875
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8092
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.755063357787216e-5
allele num: 56978
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 734
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15078
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.56e-1

DP
type: SiteQuality
SIO_000300: 1.301746e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

FS
type: SiteQuality
SIO_000300: 4.055e0

QD
type: SiteQuality
SIO_000300: 1.211e1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
all individuals: 272
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2058
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variant carriers: 0

GenotypeQuality
all individuals: 1671
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variant carriers: 0

GenotypeQuality
all individuals: 1685
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variant carriers: 0

GenotypeQuality
all individuals: 702
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GenotypeQuality
all individuals: 1397
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variant carriers: 0

GenotypeQuality
all individuals: 484
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variant carriers: 0

GenotypeQuality
all individuals: 1098
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variant carriers: 0

GenotypeQuality
all individuals: 1061
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variant carriers: 0

GenotypeQuality
all individuals: 910
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variant carriers: 0

GenotypeQuality
all individuals: 402
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GenotypeQuality
all individuals: 4487
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variant carriers: 0

GenotypeQuality
all individuals: 2157
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variant carriers: 0

GenotypeQuality
all individuals: 28008
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variant carriers: 0

GenotypeQuality
all individuals: 8595
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1747
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1601
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4966
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57082
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7890
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

DP
type: SiteQuality
SIO_000300: 1.303727e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.086e1

FS
type: SiteQuality
SIO_000300: 7.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.629999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

GenotypeQuality
all individuals: 285
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variant carriers: 59

GenotypeQuality
all individuals: 941
bin: 5.25e1
variant carriers: 219

GenotypeQuality
all individuals: 427
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variant carriers: 23

GenotypeQuality
all individuals: 389
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variant carriers: 88

GenotypeQuality
all individuals: 1227
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variant carriers: 60

GenotypeQuality
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variant carriers: 185

GenotypeQuality
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variant carriers: 17535

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 336

GenotypeQuality
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GenotypeQuality
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variant carriers: 298

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 403
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GenotypeQuality
all individuals: 20230
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variant carriers: 249

GenotypeQuality
all individuals: 488
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variant carriers: 293

GenotypeQuality
all individuals: 1087
bin: 4.75e1
variant carriers: 195

East Asian
type: Population
allele count: 4947
allele frequency: 6.022644265887509e-1
allele num: 8214
num of homozygotes: 1461

African
type: Population
allele count: 1342
allele frequency: 1.646625766871166e-1
allele num: 8150
num of homozygotes: 99

South Asian
type: Population
allele count: 4176
allele frequency: 2.713802963348064e-1
allele num: 15388
num of homozygotes: 597

Other
type: Population
allele count: 151
allele frequency: 2.074175824175824e-1
allele num: 728
num of homozygotes: 19

Latino
type: Population
allele count: 3042
allele frequency: 2.874692874692875e-1
allele num: 10582
num of homozygotes: 418

European (Non-Finnish)
type: Population
allele count: 8539
allele frequency: 1.479280715127157e-1
allele num: 57724
num of homozygotes: 580

European (Finnish)
type: Population
allele count: 987
allele frequency: 1.945977917981073e-1
allele num: 5072
num of homozygotes: 89

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

DP
type: SiteQuality
SIO_000300: 1.529177e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.11e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 1.649e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.75e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 386
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GenotypeQuality
all individuals: 370
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variant carriers: 0

GenotypeQuality
all individuals: 1626
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15130
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4932
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.741614127973806e-5
allele num: 57418
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

FS
type: SiteQuality
SIO_000300: 3.702e0

MQ
type: SiteQuality
SIO_000300: 5.859e1

VQSLOD
type: SiteQuality
SIO_000300: -2.541e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

DP
type: SiteQuality
SIO_000300: 1.35817e6

BaseQRankSum
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SIO_000300: -2.443e0

QD
type: SiteQuality
SIO_000300: 9.880000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.345e0