9-98218514-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218514
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218514
    reference: chr 9
allele count: 1
allele frequency: 8.29655195300833e-6
allele num: 120532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+44C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+44C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29449
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2383
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

9-98218515-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218515
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218515
    reference: chr 9
allele count: 2
allele frequency: 1.658897496723677e-5
allele num: 120562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+43C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+43C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+43C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+43C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+43C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+43C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+43C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+43C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8741
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2674
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

9-98218515-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218515
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218515
    reference: chr 9
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+43C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+43C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+43C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+43C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+43C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+43C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+43C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+43C>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39149
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

9-98218519-GT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218519
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218518
    reference: chr 9
allele count: 2
allele frequency: 1.658814942605003e-5
allele num: 120568
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+38delA
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+38delA
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+38delA
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+38delA
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+38delA
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+38delA
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+38delA
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+38delA
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10866
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8752
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2891
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: GT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: DP

9-98218523-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218523
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218523
    reference: chr 9
allele count: 1
allele frequency: 8.291186468783682e-6
allele num: 120610
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+35A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+35A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+35A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+35A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+35A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+35A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+35A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+35A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10863
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39605
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

9-98218524-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218524
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218524
    reference: chr 9
allele count: 2
allele frequency: 1.658044833532299e-5
allele num: 120624
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+34A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+34A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+34A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+34A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+34A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+34A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+34A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+34A>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29592
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39671
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2387
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/9-98218528-CAA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218528
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218526
    reference: chr 9
allele count: 127
allele frequency: 1.052718832891247e-3
allele num: 120640
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+28_3108+29delTT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+28_3303+29delTT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+28_3108+29delTT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+28_3306+29delTT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+28_2853+29delTT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+28_2853+29delTT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+28_2853+29delTT
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+28_*1614+29delTT
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: CAA
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-98218529-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218529
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218529
    reference: chr 9
allele count: 2
allele frequency: 1.661129568106312e-5
allele num: 120400
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+29T>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+29T>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+29T>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+29T>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+29T>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+29T>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+29T>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+29T>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2420
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2881
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2695
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

9-98218537-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218537
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218537
    reference: chr 9
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+21A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+21A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+21A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+21A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+21A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+21A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+21A>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+21A>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2361
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

9-98218540-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218540
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218540
    reference: chr 9
allele count: 1
allele frequency: 8.278968109414843e-6
allele num: 120788
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+18A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+18A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+18A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+18A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+18A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+18A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+18A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+18A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40132
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

9-98218542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218542
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218542
    reference: chr 9
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+16G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+16G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+16G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+16G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+16G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+16G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+16G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+16G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2425
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

9-98218543-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218543
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218543
    reference: chr 9
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+15T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+15T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+15T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+15T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+15T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+15T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+15T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+15T>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10915
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29808
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40207
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2902
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

9-98218548-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218548
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218548
    reference: chr 9
allele count: 1
allele frequency: 8.268426187759421e-6
allele num: 120942
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+10A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+10A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+10A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+10A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+10A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+10A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+10A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+10A>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29830
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2716
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1670
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-98218552-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218552
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218552
    reference: chr 9
allele count: 5
allele frequency: 4.130797574395664e-5
allele num: 121042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1614+6G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3306+6G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3108+6G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2853+6G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2853+6G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3303+6G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2853+6G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3108+6G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15406
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
hgvs: c.3306+6G>A
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

9-98218566-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218566
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218566
    reference: chr 9
allele count: 4
allele frequency: 3.300384494793644e-5
allele num: 121198
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3100G>A
  hgvsp: ENSP00000410287.2:p.Val1034Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2845G>A
  hgvsp: ENSP00000399981.1:p.Val949Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1606G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2845G>A
  hgvsp: ENSP00000396135.1:p.Val949Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3100G>A
  hgvsp: ENSP00000389744.1:p.Val1034Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3295G>A
  hgvsp: ENSP00000364423.2:p.Val1099Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2845G>A
  hgvsp: ENSP00000414823.2:p.Val949Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3298G>A
  hgvsp: ENSP00000332353.6:p.Val1100Ile
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1100Ile
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

9-98218572-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218572
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218572
    reference: chr 9
allele count: 1
allele frequency: 8.24783082049421e-6
allele num: 121244
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3289G>A
  hgvsp: ENSP00000364423.2:p.Val1097Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2839G>A
  hgvsp: ENSP00000414823.2:p.Val947Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3292G>A
  hgvsp: ENSP00000332353.6:p.Val1098Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3094G>A
  hgvsp: ENSP00000410287.2:p.Val1032Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2839G>A
  hgvsp: ENSP00000399981.1:p.Val947Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3094G>A
  hgvsp: ENSP00000389744.1:p.Val1032Ile
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1600G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2839G>A
  hgvsp: ENSP00000396135.1:p.Val947Ile
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40491
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1098Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

9-98218573-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218573
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218573
    reference: chr 9
allele count: 5
allele frequency: 4.123983438082513e-5
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3093C>T
  hgvsp: ENST00000430669.2:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2838C>T
  hgvsp: ENST00000418258.1:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1599C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2838C>T
  hgvsp: ENST00000421141.1:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3288C>T
  hgvsp: ENST00000375274.2:c.3288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3291C>T
  hgvsp: ENST00000331920.6:c.3291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3093C>T
  hgvsp: ENST00000437951.1:c.3093C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2838C>T
  hgvsp: ENST00000429896.2:c.2838C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10935
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2720
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1671
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr1097Thr
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

9-98218576-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218576
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218576
    reference: chr 9
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3090C>T
  hgvsp: ENST00000437951.1:c.3090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3285C>T
  hgvsp: ENST00000375274.2:c.3285C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3090C>T
  hgvsp: ENST00000430669.2:c.3090C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2835C>T
  hgvsp: ENST00000421141.1:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2835C>T
  hgvsp: ENST00000418258.1:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2835C>T
  hgvsp: ENST00000429896.2:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1596C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3288C>T
  hgvsp: ENST00000331920.6:c.3288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15529
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe1096Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

9-98218585-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218585
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218585
    reference: chr 9
allele count: 1
allele frequency: 8.243071698237632e-6
allele num: 121314
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2826A>G
  hgvsp: ENST00000418258.1:c.2826A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1587A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3279A>G
  hgvsp: ENST00000331920.6:c.3279A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3081A>G
  hgvsp: ENST00000430669.2:c.3081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3276A>G
  hgvsp: ENST00000375274.2:c.3276A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2826A>G
  hgvsp: ENST00000421141.1:c.2826A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3081A>G
  hgvsp: ENST00000437951.1:c.3081A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2826A>G
  hgvsp: ENST00000429896.2:c.2826A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly1093Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

9-98218596-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218596
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218596
    reference: chr 9
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1576G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2815G>C
  hgvsp: ENSP00000396135.1:p.Val939Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3070G>C
  hgvsp: ENSP00000389744.1:p.Val1024Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3265G>C
  hgvsp: ENSP00000364423.2:p.Val1089Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3070G>C
  hgvsp: ENSP00000410287.2:p.Val1024Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2815G>C
  hgvsp: ENSP00000414823.2:p.Val939Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3268G>C
  hgvsp: ENSP00000332353.6:p.Val1090Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2815G>C
  hgvsp: ENSP00000399981.1:p.Val939Leu
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40519
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val1090Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-98218602-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218602
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218602
    reference: chr 9
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2809G>A
  hgvsp: ENSP00000396135.1:p.Ala937Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3259G>A
  hgvsp: ENSP00000364423.2:p.Ala1087Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2809G>A
  hgvsp: ENSP00000414823.2:p.Ala937Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3064G>A
  hgvsp: ENSP00000410287.2:p.Ala1022Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3262G>A
  hgvsp: ENSP00000332353.6:p.Ala1088Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1570G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2809G>A
  hgvsp: ENSP00000399981.1:p.Ala937Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3064G>A
  hgvsp: ENSP00000389744.1:p.Ala1022Thr
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala1088Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

9-98218603-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218603
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218603
    reference: chr 9
allele count: 3
allele frequency: 2.472473132458627e-5
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3063C>T
  hgvsp: ENST00000437951.1:c.3063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3063C>T
  hgvsp: ENST00000430669.2:c.3063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2808C>T
  hgvsp: ENST00000429896.2:c.2808C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3258C>T
  hgvsp: ENST00000375274.2:c.3258C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2808C>T
  hgvsp: ENST00000418258.1:c.2808C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3261C>T
  hgvsp: ENST00000331920.6:c.3261C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1569C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2808C>T
  hgvsp: ENST00000421141.1:c.2808C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2918
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8852
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2357
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ile1087Ile
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

9-98218608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218608
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218608
    reference: chr 9
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3058C>T
  hgvsp: ENST00000437951.1:c.3058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1564C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3253C>T
  hgvsp: ENST00000375274.2:c.3253C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3058C>T
  hgvsp: ENST00000430669.2:c.3058C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3256C>T
  hgvsp: ENST00000331920.6:c.3256C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2803C>T
  hgvsp: ENST00000421141.1:c.2803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2803C>T
  hgvsp: ENST00000429896.2:c.2803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2803C>T
  hgvsp: ENST00000418258.1:c.2803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15511
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu1086Leu
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

9-98218610-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218610
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218610
    reference: chr 9
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3056T>C
  hgvsp: ENSP00000389744.1:p.Ile1019Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2801T>C
  hgvsp: ENSP00000414823.2:p.Ile934Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2801T>C
  hgvsp: ENSP00000399981.1:p.Ile934Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3056T>C
  hgvsp: ENSP00000410287.2:p.Ile1019Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3251T>C
  hgvsp: ENSP00000364423.2:p.Ile1084Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1562T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3254T>C
  hgvsp: ENSP00000332353.6:p.Ile1085Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2801T>C
  hgvsp: ENSP00000396135.1:p.Ile934Thr
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15505
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29941
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40516
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile1085Thr
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

9-98218617-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218617
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218617
    reference: chr 9
allele count: 10
allele frequency: 8.24279991427488e-5
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3244G>A
  hgvsp: ENSP00000364423.2:p.Val1082Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3247G>A
  hgvsp: ENSP00000332353.6:p.Val1083Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1555G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2794G>A
  hgvsp: ENSP00000396135.1:p.Val932Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3049G>A
  hgvsp: ENSP00000410287.2:p.Val1017Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3049G>A
  hgvsp: ENSP00000389744.1:p.Val1017Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2794G>A
  hgvsp: ENSP00000414823.2:p.Val932Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2794G>A
  hgvsp: ENSP00000399981.1:p.Val932Met
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15487
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10931
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2433
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8850
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1083Met
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

9-98218618-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218618
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218618
    reference: chr 9
allele count: 2
allele frequency: 1.64866870002473e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1554C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2793C>T
  hgvsp: ENST00000418258.1:c.2793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3246C>T
  hgvsp: ENST00000331920.6:c.3246C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3048C>T
  hgvsp: ENST00000437951.1:c.3048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2793C>T
  hgvsp: ENST00000429896.2:c.2793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3243C>T
  hgvsp: ENST00000375274.2:c.3243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3048C>T
  hgvsp: ENST00000430669.2:c.3048C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2793C>T
  hgvsp: ENST00000421141.1:c.2793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro1082Pro
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-98218621-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218621
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218621
    reference: chr 9
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3045G>A
  hgvsp: ENST00000430669.2:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3045G>A
  hgvsp: ENST00000437951.1:c.3045G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1551G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3243G>A
  hgvsp: ENST00000331920.6:c.3243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2790G>A
  hgvsp: ENST00000429896.2:c.2790G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2790G>A
  hgvsp: ENST00000418258.1:c.2790G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3240G>A
  hgvsp: ENST00000375274.2:c.3240G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2790G>A
  hgvsp: ENST00000421141.1:c.2790G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15484
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Val1081Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-98218623-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218623
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218623
    reference: chr 9
allele count: 12
allele frequency: 9.893153937475267e-5
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3043G>A
  hgvsp: ENSP00000389744.1:p.Val1015Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2788G>A
  hgvsp: ENSP00000414823.2:p.Val930Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2788G>A
  hgvsp: ENSP00000396135.1:p.Val930Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3043G>A
  hgvsp: ENSP00000410287.2:p.Val1015Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1549G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2788G>A
  hgvsp: ENSP00000399981.1:p.Val930Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3241G>A
  hgvsp: ENSP00000332353.6:p.Val1081Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3238G>A
  hgvsp: ENSP00000364423.2:p.Val1080Met
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10926
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29942
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2354
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 40475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Val1081Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum

9-98218624-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218624
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218624
    reference: chr 9
allele count: 25
allele frequency: 2.061039753334762e-4
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3042C>T
  hgvsp: ENST00000437951.1:c.3042C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2787C>T
  hgvsp: ENST00000429896.2:c.2787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3042C>T
  hgvsp: ENST00000430669.2:c.3042C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1548C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2787C>T
  hgvsp: ENST00000421141.1:c.2787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3240C>T
  hgvsp: ENST00000331920.6:c.3240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3237C>T
  hgvsp: ENST00000375274.2:c.3237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2787C>T
  hgvsp: ENST00000418258.1:c.2787C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1080Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP

9-98218624-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218624
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218624
    reference: chr 9
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3237C>A
  hgvsp: ENST00000375274.2:c.3237C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3042C>A
  hgvsp: ENST00000430669.2:c.3042C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2787C>A
  hgvsp: ENST00000421141.1:c.2787C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3042C>A
  hgvsp: ENST00000437951.1:c.3042C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2787C>A
  hgvsp: ENST00000429896.2:c.2787C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3240C>A
  hgvsp: ENST00000331920.6:c.3240C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2787C>A
  hgvsp: ENST00000418258.1:c.2787C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  clinical significance: uncertain_significance
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1548C>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2429
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2702
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala1080Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum

9-98218625-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218625
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218625
    reference: chr 9
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3041C>T
  hgvsp: ENSP00000410287.2:p.Ala1014Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3239C>T
  hgvsp: ENSP00000332353.6:p.Ala1080Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1547C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3041C>T
  hgvsp: ENSP00000389744.1:p.Ala1014Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3236C>T
  hgvsp: ENSP00000364423.2:p.Ala1079Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2786C>T
  hgvsp: ENSP00000414823.2:p.Ala929Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2786C>T
  hgvsp: ENSP00000399981.1:p.Ala929Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2786C>T
  hgvsp: ENSP00000396135.1:p.Ala929Val
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10930
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala1080Val
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

9-98218638-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218638
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218638
    reference: chr 9
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2773A>G
  hgvsp: ENSP00000396135.1:p.Ile925Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3028A>G
  hgvsp: ENSP00000389744.1:p.Ile1010Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1534A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2773A>G
  hgvsp: ENSP00000414823.2:p.Ile925Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2773A>G
  hgvsp: ENSP00000399981.1:p.Ile925Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3223A>G
  hgvsp: ENSP00000364423.2:p.Ile1075Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3226A>G
  hgvsp: ENSP00000332353.6:p.Ile1076Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3028A>G
  hgvsp: ENSP00000410287.2:p.Ile1010Val
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15389
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile1076Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

9-98218639-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218639
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218639
    reference: chr 9
allele count: 1
allele frequency: 8.246606521416436e-6
allele num: 121262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3027A>T
  hgvsp: ENST00000430669.2:c.3027A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2772A>T
  hgvsp: ENST00000429896.2:c.2772A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1533A>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2772A>T
  hgvsp: ENST00000421141.1:c.2772A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2772A>T
  hgvsp: ENST00000418258.1:c.2772A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3222A>T
  hgvsp: ENST00000375274.2:c.3222A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3027A>T
  hgvsp: ENST00000437951.1:c.3027A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3225A>T
  hgvsp: ENST00000331920.6:c.3225A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10926
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2901
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2697
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly1075Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum

9-98218642-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218642
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218642
    reference: chr 9
allele count: 15
allele frequency: 1.237317495669389e-4
allele num: 121230
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2769C>T
  hgvsp: ENST00000429896.2:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3024C>T
  hgvsp: ENST00000430669.2:c.3024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3219C>T
  hgvsp: ENST00000375274.2:c.3219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2769C>T
  hgvsp: ENST00000421141.1:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3222C>T
  hgvsp: ENST00000331920.6:c.3222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1530C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3024C>T
  hgvsp: ENST00000437951.1:c.3024C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2769C>T
  hgvsp: ENST00000418258.1:c.2769C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15363
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile1074Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

9-98218644-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218644
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218644
    reference: chr 9
allele count: 1
allele frequency: 8.248919391559706e-6
allele num: 121228
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3220A>G
  hgvsp: ENSP00000332353.6:p.Ile1074Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2767A>G
  hgvsp: ENSP00000396135.1:p.Ile923Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3217A>G
  hgvsp: ENSP00000364423.2:p.Ile1073Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3022A>G
  hgvsp: ENSP00000389744.1:p.Ile1008Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2767A>G
  hgvsp: ENSP00000414823.2:p.Ile923Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1528A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3022A>G
  hgvsp: ENSP00000410287.2:p.Ile1008Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2767A>G
  hgvsp: ENSP00000399981.1:p.Ile923Val
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile1074Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum

9-98218645-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218645
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218645
    reference: chr 9
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2766C>T
  hgvsp: ENST00000429896.2:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2766C>T
  hgvsp: ENST00000418258.1:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2766C>T
  hgvsp: ENST00000421141.1:c.2766C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3021C>T
  hgvsp: ENST00000430669.2:c.3021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3219C>T
  hgvsp: ENST00000331920.6:c.3219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3216C>T
  hgvsp: ENST00000375274.2:c.3216C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1527C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3021C>T
  hgvsp: ENST00000437951.1:c.3021C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10910
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15342
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu1073Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

http://identifiers.org/exac.variant/9-98218650-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218650
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218650
    reference: chr 9
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2761G>T
  hgvsp: ENSP00000399981.1:p.Gly921Cys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3016G>T
  hgvsp: ENSP00000410287.2:p.Gly1006Cys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3214G>T
  hgvsp: ENSP00000332353.6:p.Gly1072Cys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3016G>T
  hgvsp: ENSP00000389744.1:p.Gly1006Cys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2761G>T
  hgvsp: ENSP00000396135.1:p.Gly921Cys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2761G>T
  hgvsp: ENSP00000414823.2:p.Gly921Cys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3211G>T
  hgvsp: ENSP00000364423.2:p.Gly1071Cys
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1522G>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29890
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10874
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2675
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly1072Cys
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

9-98218653-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218653
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218653
    reference: chr 9
allele count: 1
allele frequency: 8.257365570088519e-6
allele num: 121104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3208A>G
  hgvsp: ENSP00000364423.2:p.Met1070Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2758A>G
  hgvsp: ENSP00000414823.2:p.Met920Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3211A>G
  hgvsp: ENSP00000332353.6:p.Met1071Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2758A>G
  hgvsp: ENSP00000396135.1:p.Met920Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3013A>G
  hgvsp: ENSP00000389744.1:p.Met1005Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3013A>G
  hgvsp: ENSP00000410287.2:p.Met1005Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2758A>G
  hgvsp: ENSP00000399981.1:p.Met920Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1519A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10838
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2302
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Met1071Val
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: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

9-98218656-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218656
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218656
    reference: chr 9
allele count: 1
allele frequency: 8.262823902696986e-6
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2755A>G
  hgvsp: ENSP00000396135.1:p.Met919Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3010A>G
  hgvsp: ENSP00000410287.2:p.Met1004Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3208A>G
  hgvsp: ENSP00000332353.6:p.Met1070Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2755A>G
  hgvsp: ENSP00000399981.1:p.Met919Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2755A>G
  hgvsp: ENSP00000414823.2:p.Met919Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3205A>G
  hgvsp: ENSP00000364423.2:p.Met1069Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3010A>G
  hgvsp: ENSP00000389744.1:p.Met1004Val
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1516A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10826
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met1070Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

9-98218657-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218657
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218657
    reference: chr 9
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3207C>A
  hgvsp: ENST00000331920.6:c.3207C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2754C>A
  hgvsp: ENST00000429896.2:c.2754C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2754C>A
  hgvsp: ENST00000418258.1:c.2754C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3204C>A
  hgvsp: ENST00000375274.2:c.3204C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1515C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3009C>A
  hgvsp: ENST00000437951.1:c.3009C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3009C>A
  hgvsp: ENST00000430669.2:c.3009C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2754C>A
  hgvsp: ENST00000421141.1:c.2754C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15174
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2849
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly1069Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

9-98218660-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218660
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218660
    reference: chr 9
allele count: 3
allele frequency: 2.484430899695243e-5
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1512C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3204C>T
  hgvsp: ENST00000331920.6:c.3204C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2751C>T
  hgvsp: ENST00000418258.1:c.2751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3006C>T
  hgvsp: ENST00000430669.2:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3201C>T
  hgvsp: ENST00000375274.2:c.3201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2751C>T
  hgvsp: ENST00000429896.2:c.2751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3006C>T
  hgvsp: ENST00000437951.1:c.3006C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2751C>T
  hgvsp: ENST00000421141.1:c.2751C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8513
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2279
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe1068Phe
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

9-98218660-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218660
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218660
    reference: chr 9
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3201C>A
  hgvsp: ENSP00000364423.2:p.Phe1067Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1512C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2751C>A
  hgvsp: ENSP00000396135.1:p.Phe917Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3006C>A
  hgvsp: ENSP00000389744.1:p.Phe1002Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2751C>A
  hgvsp: ENSP00000414823.2:p.Phe917Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3006C>A
  hgvsp: ENSP00000410287.2:p.Phe1002Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3204C>A
  hgvsp: ENSP00000332353.6:p.Phe1068Leu
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2751C>A
  hgvsp: ENSP00000399981.1:p.Phe917Leu
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15040
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe1068Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

9-98218663-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218663
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218663
    reference: chr 9
allele count: 3
allele frequency: 2.486737400530504e-5
allele num: 120640
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2748G>C
  hgvsp: ENST00000429896.2:c.2748G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3201G>C
  hgvsp: ENST00000331920.6:c.3201G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2748G>C
  hgvsp: ENST00000418258.1:c.2748G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1509G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.3003G>C
  hgvsp: ENST00000430669.2:c.3003G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3198G>C
  hgvsp: ENST00000375274.2:c.3198G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.3003G>C
  hgvsp: ENST00000437951.1:c.3003G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2748G>C
  hgvsp: ENST00000421141.1:c.2748G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10640
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2580
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 759
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu1067Leu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

9-98218669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218669
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218669
    reference: chr 9
allele count: 8
allele frequency: 6.64982045484772e-5
allele num: 120304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2742C>T
  hgvsp: ENST00000429896.2:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2997C>T
  hgvsp: ENST00000437951.1:c.2997C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3195C>T
  hgvsp: ENST00000331920.6:c.3195C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2742C>T
  hgvsp: ENST00000418258.1:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2742C>T
  hgvsp: ENST00000421141.1:c.2742C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1503C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2997C>T
  hgvsp: ENST00000430669.2:c.2997C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3192C>T
  hgvsp: ENST00000375274.2:c.3192C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1078
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Val1065Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS

9-98218669-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218669
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218669
    reference: chr 9
allele count: 1
allele frequency: 8.312275568559649e-6
allele num: 120304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2742C>G
  hgvsp: ENST00000429896.2:c.2742C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2742C>G
  hgvsp: ENST00000418258.1:c.2742C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3195C>G
  hgvsp: ENST00000331920.6:c.3195C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3192C>G
  hgvsp: ENST00000375274.2:c.3192C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2997C>G
  hgvsp: ENST00000430669.2:c.2997C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2997C>G
  hgvsp: ENST00000437951.1:c.2997C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1503C>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2742C>G
  hgvsp: ENST00000421141.1:c.2742C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Val1065Val
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

9-98218672-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218672
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218672
    reference: chr 9
allele count: 13
allele frequency: 1.085413709610086e-4
allele num: 119770
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3192G>A
  hgvsp: ENST00000331920.6:c.3192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3189G>A
  hgvsp: ENST00000375274.2:c.3189G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2739G>A
  hgvsp: ENST00000429896.2:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2739G>A
  hgvsp: ENST00000418258.1:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2994G>A
  hgvsp: ENST00000437951.1:c.2994G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2994G>A
  hgvsp: ENST00000430669.2:c.2994G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2739G>A
  hgvsp: ENST00000421141.1:c.2739G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1500G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10061
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28572
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2466
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38064
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8112
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr1064Thr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

9-98218673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218673
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218673
    reference: chr 9
allele count: 11
allele frequency: 9.188412576430887e-5
allele num: 119716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2993C>T
  hgvsp: ENSP00000389744.1:p.Thr998Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3191C>T
  hgvsp: ENSP00000332353.6:p.Thr1064Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2738C>T
  hgvsp: ENSP00000414823.2:p.Thr913Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2738C>T
  hgvsp: ENSP00000396135.1:p.Thr913Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3188C>T
  hgvsp: ENSP00000364423.2:p.Thr1063Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1499C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2738C>T
  hgvsp: ENSP00000399981.1:p.Thr913Met
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2993C>T
  hgvsp: ENSP00000410287.2:p.Thr998Met
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15109
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10011
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2245
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr1064Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

http://identifiers.org/exac.variant/9-98218683-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218683
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218683
    reference: chr 9
allele count: 1
allele frequency: 8.432271991365354e-6
allele num: 118592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2728G>T
  hgvsp: ENSP00000396135.1:p.Ala910Ser
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3178G>T
  hgvsp: ENSP00000364423.2:p.Ala1060Ser
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2983G>T
  hgvsp: ENSP00000410287.2:p.Ala995Ser
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2728G>T
  hgvsp: ENSP00000399981.1:p.Ala910Ser
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2983G>T
  hgvsp: ENSP00000389744.1:p.Ala995Ser
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3181G>T
  hgvsp: ENSP00000332353.6:p.Ala1061Ser
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1489G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2728G>T
  hgvsp: ENSP00000414823.2:p.Ala910Ser
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala1061Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

9-98218683-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218683
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218683
    reference: chr 9
allele count: 3
allele frequency: 2.529681597409606e-5
allele num: 118592
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3181G>A
  hgvsp: ENSP00000332353.6:p.Ala1061Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2728G>A
  hgvsp: ENSP00000396135.1:p.Ala910Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2728G>A
  hgvsp: ENSP00000399981.1:p.Ala910Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2983G>A
  hgvsp: ENSP00000410287.2:p.Ala995Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2728G>A
  hgvsp: ENSP00000414823.2:p.Ala910Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2983G>A
  hgvsp: ENSP00000389744.1:p.Ala995Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3178G>A
  hgvsp: ENSP00000364423.2:p.Ala1060Thr
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1489G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36564
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1061Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

9-98218684-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218684
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218684
    reference: chr 9
allele count: 1
allele frequency: 8.441668073611346e-6
allele num: 118460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2727G>A
  hgvsp: ENST00000429896.2:c.2727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3180G>A
  hgvsp: ENST00000331920.6:c.3180G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2982G>A
  hgvsp: ENST00000437951.1:c.2982G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2727G>A
  hgvsp: ENST00000418258.1:c.2727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2727G>A
  hgvsp: ENST00000421141.1:c.2727G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3177G>A
  hgvsp: ENST00000375274.2:c.3177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2982G>A
  hgvsp: ENST00000430669.2:c.2982G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1488G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15755
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26949
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36358
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2850
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu1060Leu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

9-98218686-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218686
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218686
    reference: chr 9
allele count: 1
allele frequency: 8.448371998715848e-6
allele num: 118366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2980C>T
  hgvsp: ENST00000437951.1:c.2980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2725C>T
  hgvsp: ENST00000429896.2:c.2725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2980C>T
  hgvsp: ENST00000430669.2:c.2980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1486C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3175C>T
  hgvsp: ENST00000375274.2:c.3175C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2725C>T
  hgvsp: ENST00000418258.1:c.2725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2725C>T
  hgvsp: ENST00000421141.1:c.2725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3178C>T
  hgvsp: ENST00000331920.6:c.3178C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26826
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2919
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu1060Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

9-98218700-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218700
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218700
    reference: chr 9
allele count: 70
allele frequency: 6.056830374139065e-4
allele num: 115572
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-5T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-5T>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1896
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23004
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14771
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6712
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7549
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
hgvs: c.3169-5T>C
num of homozygotes: 1
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP

9-98218706-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218706
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218706
    reference: chr 9
allele count: 2
allele frequency: 1.750485759798344e-5
allele num: 114254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-11C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-11C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8819
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14169
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2941
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1843
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP

9-98218707-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218707
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218707
    reference: chr 9
allele count: 14
allele frequency: 1.225061253062653e-4
allele num: 114280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-12G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-12G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8869
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21067
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14278
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6793
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2207
  bin: 9.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

9-98218712-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218712
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218712
    reference: chr 9
allele count: 1
allele frequency: 8.860849223789609e-6
allele num: 112856
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-17T>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-17T>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

9-98218712-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218712
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218712
    reference: chr 9
allele count: 19
allele frequency: 1.683561352520026e-4
allele num: 112856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-17T>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-17T>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4524
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17903
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12628
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6058
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12160
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24581
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

9-98218715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218715
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218715
    reference: chr 9
allele count: 1
allele frequency: 8.891892372534723e-6
allele num: 112462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-20C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-20C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5855
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17222
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4387
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

9-98218721-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218721
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218721
    reference: chr 9
allele count: 1
allele frequency: 8.989410474461085e-6
allele num: 111242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-26A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-26A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6105
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

9-98218721-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218721
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218720
    reference: chr 9
allele count: 3
allele frequency: 2.696823142338325e-5
allele num: 111242
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-27delC
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-27delC
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16117
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10794
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13440
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6105
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4120
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3782
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: TG
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

9-98218725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218725
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218725
    reference: chr 9
allele count: 4
allele frequency: 3.638083457634518e-5
allele num: 109948
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-30G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-30G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4809
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1594
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10464
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17015
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1650
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6862
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

9-98218726-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218726
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218726
    reference: chr 9
allele count: 2
allele frequency: 1.824817518248175e-5
allele num: 109600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-31C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-31C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10008
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10805
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10412
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17195
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 8.25e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ

9-98218728-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218728
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218728
    reference: chr 9
allele count: 36
allele frequency: 3.297428006155199e-4
allele num: 109176
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-33C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-33C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10643
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3618
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17491
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10207
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5072
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10068
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2215
  bin: 9.75e1
  variant carriers: 36
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

9-98218729-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218729
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218729
    reference: chr 9
allele count: 1
allele frequency: 9.168928335656129e-6
allele num: 109064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-34G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-34G>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10016
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17621
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7357
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

9-98218731-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218731
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218731
    reference: chr 9
allele count: 1
allele frequency: 9.198108868816571e-6
allele num: 108718
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-36C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-36C>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17726
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9235
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2067
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

9-98218732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218732
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218732
    reference: chr 9
allele count: 4
allele frequency: 3.703155088135091e-5
allele num: 108016
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-37C>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-37C>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2748
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum

9-98218732-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218732
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218732
    reference: chr 9
allele count: 1
allele frequency: 9.257887720337728e-6
allele num: 108016
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-37C>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-37C>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5586
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8269
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17601
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8047
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6572
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2193
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7864
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

9-98218737-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218737
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218737
    reference: chr 9
allele count: 1
allele frequency: 9.398672907385477e-6
allele num: 106398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-42G>A
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-42G>A
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15848
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2989
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1088
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

9-98218740-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218740
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218740
    reference: chr 9
allele count: 1
allele frequency: 9.528346831824678e-6
allele num: 104950
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-45G>C
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-45G>C
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2828
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16802
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15627
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1889
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2305
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9979
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

9-98218741-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98218741
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98218741
    reference: chr 9
allele count: 1
allele frequency: 9.52653138992093e-6
allele num: 104970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3166-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3169-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.519-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1477-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2971-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2971-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2716-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2716-46A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2716-46A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15541
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6944
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7029
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2083
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4329
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7038
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2190
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/9-98220245-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98220245
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98220245
    reference: chr 9
allele count: 1
allele frequency: 8.316976612661764e-6
allele num: 120236
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000396135
  ensembl transcript: ENST00000418258
  gene symbol: PTCH1
  hgvsc: ENST00000418258.1:c.2715+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2970+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364423
  ensembl transcript: ENST00000375274
  gene symbol: PTCH1
  hgvsc: ENST00000375274.2:c.3165+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000410287
  ensembl transcript: ENST00000430669
  gene symbol: PTCH1
  hgvsc: ENST00000430669.2:c.2970+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.518+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3168+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1476+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000399981
  ensembl transcript: ENST00000421141
  gene symbol: PTCH1
  hgvsc: ENST00000421141.1:c.2715+50G>T
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2715+50G>T
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13471
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8430
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

9-98220246-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 98220246
    reference: chr 9
  end: Position
    type: ExactPosition
    position: 98220246
    reference: chr 9
allele count: 1
allele frequency: 8.316561600771776e-6
allele num: 120242
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl transcript: ENST00000547615
  gene symbol: PTCH1
  hgvsc: ENST00000547615.1:n.518+49A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000414823
  ensembl transcript: ENST00000429896
  gene symbol: PTCH1
  hgvsc: ENST00000429896.2:c.2715+49A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000364439
  ensembl transcript: ENST00000375290
  gene symbol: PTCH1
  hgvsc: ENST00000375290.2:c.*1476+49A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000332353
  ensembl transcript: ENST00000331920
  gene symbol: PTCH1
  hgvsc: ENST00000331920.6:c.3168+49A>G
  variant of: http://identifiers.org/hgnc/9585
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000185920
  ensembl protein: ENSP00000389744
  ensembl transcript: ENST00000437951
  gene symbol: PTCH1
  hgvsc: ENST00000437951.1:c.2970+49A>G
  variant of: http://identifiers.org/hgnc/9585
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2668
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2871
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 261
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509115054931788e-5
allele num: 66264
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 1.662842e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.386e0

QD
type: SiteQuality
SIO_000300: 2.415e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.015e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.236e0

GenotypeQuality
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 251
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39149
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 2

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.016864271276435e-5
allele num: 66294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.403e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.159e0

QD
type: SiteQuality
SIO_000300: 1.11e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

FS
type: SiteQuality
SIO_000300: 1.053e0

DP
type: SiteQuality
SIO_000300: 1.663501e6

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 887
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2883
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8741
bin: 6.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.686587908269631e-5
allele num: 11512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66294
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.053e0

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.42e-1

DP
type: SiteQuality
SIO_000300: 1.663501e6

VQSLOD
type: SiteQuality
SIO_000300: 2.57e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.159e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.403e0

QD
type: SiteQuality
SIO_000300: 1.11e1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 331
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 625
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2382
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 39467
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1653
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16458
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.737015806843842e-4
allele num: 11514
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8528
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.47e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

FS
type: SiteQuality
SIO_000300: 1.1465e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.665991e6

GenotypeQuality
all individuals: 8774
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 69
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2896
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 337
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 892
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2386
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66318
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.62e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.358e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.27e0

VQSLOD
type: SiteQuality
SIO_000300: 4.32e0

DP
type: SiteQuality
SIO_000300: 1.667538e6

GenotypeQuality
all individuals: 132
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 340
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8776
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 3.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.01559060341968e-5
allele num: 66322
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.44e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

FS
type: SiteQuality
SIO_000300: 1.776e0

VQSLOD
type: SiteQuality
SIO_000300: 9.29e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

QD
type: SiteQuality
SIO_000300: 1.204e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

DP
type: SiteQuality
SIO_000300: 1.667943e6

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39786
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2484
bin: 9.75e1
variant carriers: 127

GenotypeQuality
all individuals: 8773
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2882
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 153
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.736412571627018e-4
allele num: 11518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 24
allele frequency: 3.640776699029126e-3
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.943634596695821e-4
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 99
allele frequency: 1.492447312087316e-3
allele num: 66334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8532
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.784e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQ
type: SiteQuality
SIO_000300: 6.041e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

DP
type: SiteQuality
SIO_000300: 1.672501e6

FS
type: SiteQuality
SIO_000300: 7.07e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39832
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8774
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.023431594860166e-5
allele num: 66150
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.752e0

QD
type: SiteQuality
SIO_000300: 1.291e1

DP
type: SiteQuality
SIO_000300: 1.663907e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.64e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
all individuals: 2713
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 16
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16480
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.66938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.011e0

VQSLOD
type: SiteQuality
SIO_000300: -1.313e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 8.880000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.611e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

FS
type: SiteQuality
SIO_000300: 4.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.02e-1

GenotypeQuality
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bin: 3.25e1
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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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505570611261668e-5
allele num: 66420
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.32e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.596e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.71e0

DP
type: SiteQuality
SIO_000300: 1.670483e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.74e0

QD
type: SiteQuality
SIO_000300: 1.304e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.774e0

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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bin: 5.25e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.671003e6

MQRankSum
type: SiteQuality
SIO_000300: -1.903e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

QD
type: SiteQuality
SIO_000300: 1.254e1

VQSLOD
type: SiteQuality
SIO_000300: -1.715e0

FS
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.95e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.47e0

MQ
type: SiteQuality
SIO_000300: 6.034e1

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
all individuals: 13
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168497312456181e-4
allele num: 8558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66450
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: -6.52e-1

MQ
type: SiteQuality
SIO_000300: 6.042e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e-1

DP
type: SiteQuality
SIO_000300: 1.671261e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.57e-2

QD
type: SiteQuality
SIO_000300: 1.031e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 10
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66504
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

FS
type: SiteQuality
SIO_000300: 6.321e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 9.87e-1

QD
type: SiteQuality
SIO_000300: 2.68e0

VQSLOD
type: SiteQuality
SIO_000300: -3.917e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.627e0

DP
type: SiteQuality
SIO_000300: 1.672498e6

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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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: 10338
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.03030303030303e-4
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66548
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.673679e6

FS
type: SiteQuality
SIO_000300: 2.561e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

MQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.502746675472038e-5
allele num: 66626
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16508
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Latino
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allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
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Other
type: Population
allele count: 0
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allele num: 908
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VQSLOD
type: SiteQuality
SIO_000300: 9.16e-1

QD
type: SiteQuality
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DP
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-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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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66642
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Other
type: Population
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.676017e6

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 1
allele frequency: 9.641342074816814e-5
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.06e0

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

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

BaseQRankSum
type: SiteQuality
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FS
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SIO_000300: 9.399999999999999e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.1e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.76e-1

MQ
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SIO_000300: 5.945e1

VQSLOD
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QD
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DP
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

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

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
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

InbreedingCoeff
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.676922e6

BaseQRankSum
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SIO_000300: -3.062e0

FS
type: SiteQuality
SIO_000300: 9.86e-1

QD
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MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.938e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 1.677099e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

ReadPosRankSum
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SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.333e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 2.567e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.677294e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.677252e6

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.564e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

MQRankSum
type: SiteQuality
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QD
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.536e0

VQSLOD
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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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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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

Latino
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allele frequency: 8.640055296353897e-5
allele num: 11574
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MQ
type: SiteQuality
SIO_000300: 5.955e1

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.51e-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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variant carriers: 0

Other
type: Population
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allele num: 906
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 1.728608470181504e-4
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European (Non-Finnish)
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allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

South Asian
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allele frequency: 3.63460140537921e-4
allele num: 16508
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

DP
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FS
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MQ
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BaseQRankSum
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VQSLOD
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QD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

South Asian
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num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
SIO_000300: 4.865e0

VQSLOD
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QD
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BaseQRankSum
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MQRankSum
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SIO_000300: -6.929999999999999e-1

DP
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SIO_000300: 1.676894e6

MQ
type: SiteQuality
SIO_000300: 5.931e1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ReadPosRankSum
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SIO_000300: 3.0e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11566
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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InbreedingCoeff
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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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DP
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FS
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SIO_000300: 7.79e-1

ReadPosRankSum
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BaseQRankSum
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SIO_000300: -3.309e0

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

African
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allele frequency: 0.0e0
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Other
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allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
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European (Non-Finnish)
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allele count: 7
allele frequency: 1.049790041991602e-4
allele num: 66680
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South Asian
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allele frequency: 6.058403004967891e-5
allele num: 16506
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Latino
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allele frequency: 2.594258042199931e-4
allele num: 11564
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East Asian
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allele frequency: 0.0e0
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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VQSLOD
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ClippingRankSum
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MQ
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QD
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FS
type: SiteQuality
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DP
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

East Asian
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allele frequency: 4.627487274409995e-4
allele num: 8644
num of homozygotes: 0

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

Latino
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allele count: 21
allele frequency: 1.815980629539952e-3
allele num: 11564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.96e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

ClippingRankSum
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SIO_000300: -1.53e-1

BaseQRankSum
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SIO_000300: -8.01e-1

VQSLOD
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SIO_000300: 4.33e0

ReadPosRankSum
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SIO_000300: 5.53e-1

MQRankSum
type: SiteQuality
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QD
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SIO_000300: 1.316e1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
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SIO_000300: 1.677383e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

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

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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MQ
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QD
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FS
type: SiteQuality
SIO_000300: 5.96e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10390
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South Asian
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allele frequency: 0.0e0
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Latino
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East Asian
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allele frequency: 1.156871818602499e-4
allele num: 8644
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Other
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European (Finnish)
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allele frequency: 0.0e0
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DP
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FS
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

European (Non-Finnish)
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Other
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South Asian
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allele frequency: 6.06134076857801e-5
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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FS
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InbreedingCoeff
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MQ
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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European (Non-Finnish)
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allele frequency: 1.500015000150001e-5
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Latino
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South Asian
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VQSLOD
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QD
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ReadPosRankSum
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BaseQRankSum
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FS
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ClippingRankSum
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InbreedingCoeff
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DP
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MQ
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
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allele num: 66646
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South Asian
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QD
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MQRankSum
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DP
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ClippingRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
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East Asian
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allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

African
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allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -4.704e0

MQ
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InbreedingCoeff
type: SiteQuality
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FS
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MQRankSum
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ClippingRankSum
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QD
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DP
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele num: 8644
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 1
allele frequency: 6.068697657482704e-5
allele num: 16478
num of homozygotes: 0

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

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

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

QD
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FS
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BaseQRankSum
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SIO_000300: 2.25e0

MQRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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MQ
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VQSLOD
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ClippingRankSum
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SIO_000300: 6.73e-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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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
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allele frequency: 1.503216884132043e-5
allele num: 66524
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DP
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InbreedingCoeff
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MQ
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FS
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ClippingRankSum
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QD
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MQRankSum
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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European (Non-Finnish)
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Other
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ClippingRankSum
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MQ
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VQSLOD
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ReadPosRankSum
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QD
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FS
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MQRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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South Asian
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East Asian
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African
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European (Non-Finnish)
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European (Finnish)
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Latino
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DP
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FS
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BaseQRankSum
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QD
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MQ
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VQSLOD
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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European (Finnish)
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East Asian
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Latino
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MQ
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ClippingRankSum
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ReadPosRankSum
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QD
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FS
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InbreedingCoeff
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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QD
type: SiteQuality
SIO_000300: 6.85e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.496e0

FS
type: SiteQuality
SIO_000300: 4.665e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.024e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.979e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.655389e6

GenotypeQuality
all individuals: 2259
bin: 9.75e1
variant carriers: 8

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

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 612
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 5.25e1
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GenotypeQuality
all individuals: 99
bin: 5.75e1
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GenotypeQuality
all individuals: 8360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.875440658049354e-4
allele num: 10212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.09979260705136e-5
allele num: 16394
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

DP
type: SiteQuality
SIO_000300: 1.644154e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

QD
type: SiteQuality
SIO_000300: 1.228e1

FS
type: SiteQuality
SIO_000300: 3.112e0

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

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1571
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 8360
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11458
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510893542441e-5
allele num: 66186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.644154e6

QD
type: SiteQuality
SIO_000300: 1.228e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 3.112e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.48e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

VQSLOD
type: SiteQuality
SIO_000300: 2.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.38e-1

GenotypeQuality
all individuals: 2694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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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: 493
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GenotypeQuality
all individuals: 413
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variant carriers: 0

GenotypeQuality
all individuals: 2252
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 1608
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

South Asian
type: Population
allele count: 13
allele frequency: 7.95301602838615e-4
allele num: 16346
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6516
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.83e-1

DP
type: SiteQuality
SIO_000300: 1.628128e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.61e0

MQRankSum
type: SiteQuality
SIO_000300: -1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 6.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

QD
type: SiteQuality
SIO_000300: 1.291e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 487
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 2435
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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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: 12
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 185
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variant carriers: 0

GenotypeQuality
all individuals: 38309
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 5
allele frequency: 4.37598459653422e-4
allele num: 11426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518556763651825e-5
allele num: 65852
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.956478733926805e-4
allele num: 10110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.122199093914534e-5
allele num: 16334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8590
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.317e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.448e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.58e-1

DP
type: SiteQuality
SIO_000300: 1.626229e6

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

GenotypeQuality
all individuals: 790
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
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variant carriers: 0

GenotypeQuality
all individuals: 2729
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 28
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2213
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GenotypeQuality
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GenotypeQuality
all individuals: 36564
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532191340054546e-5
allele num: 65266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 4.311e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

DP
type: SiteQuality
SIO_000300: 1.583306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 28
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 667
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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GenotypeQuality
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GenotypeQuality
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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: 525
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.596574020163638e-5
allele num: 65266
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

DP
type: SiteQuality
SIO_000300: 1.583306e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.471e0

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.311e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.65e-1

QD
type: SiteQuality
SIO_000300: 1.267e1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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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variant carriers: 0

GenotypeQuality
all individuals: 7565
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534024667116647e-5
allele num: 65188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9956
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.75e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.579371e6

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.533e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.123e0

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
all individuals: 11
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GenotypeQuality
all individuals: 567
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GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 2229
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 807
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GenotypeQuality
all individuals: 36663
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GenotypeQuality
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GenotypeQuality
all individuals: 7495
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variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.005227181342983e-4
allele num: 9948
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65136
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11266
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

QD
type: SiteQuality
SIO_000300: 1.354e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.237e0

DP
type: SiteQuality
SIO_000300: 1.575078e6

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.882e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.15e-1

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31566
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variant carriers: 0

GenotypeQuality
all individuals: 2079
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GenotypeQuality
all individuals: 75
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GenotypeQuality
all individuals: 47
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GenotypeQuality
all individuals: 32
bin: 1.25e1
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GenotypeQuality
all individuals: 1150
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GenotypeQuality
all individuals: 1253
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GenotypeQuality
all individuals: 1827
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variant carriers: 0

GenotypeQuality
all individuals: 372
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GenotypeQuality
all individuals: 6651
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GenotypeQuality
all individuals: 2097
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GenotypeQuality
all individuals: 489
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variant carriers: 0

GenotypeQuality
all individuals: 2248
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variant carriers: 69

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572030434509212e-5
allele num: 63612
num of homozygotes: 0

South Asian
type: Population
allele count: 66
allele frequency: 4.122423485321674e-3
allele num: 16010
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.336448598130841e-3
allele num: 856
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6270
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.174311926605505e-5
allele num: 10900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

QD
type: SiteQuality
SIO_000300: 1.415e1

MQRankSum
type: SiteQuality
SIO_000300: 2.55e-1

DP
type: SiteQuality
SIO_000300: 1.477113e6

GenotypeQuality
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bin: 1.25e1
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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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10734
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.092487968194183e-4
allele num: 9558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62838
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.94e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.011e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.13e0

QD
type: SiteQuality
SIO_000300: 1.595e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.147e0

FS
type: SiteQuality
SIO_000300: 3.31e0

DP
type: SiteQuality
SIO_000300: 1.425936e6

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6198
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8144
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.46504813729594e-3
allele num: 9556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10742
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62870
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.42401e6

FS
type: SiteQuality
SIO_000300: 9.26e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.31e-1

QD
type: SiteQuality
SIO_000300: 1.242e1

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.689e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15810
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.47867298578199e-5
allele num: 10550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62062
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.342515e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

FS
type: SiteQuality
SIO_000300: 1.947e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-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
all individuals: 753
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 19
allele frequency: 2.020416843896214e-3
allele num: 9404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15810
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10550
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6130
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

QD
type: SiteQuality
SIO_000300: 1.348e1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

FS
type: SiteQuality
SIO_000300: 1.947e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.342515e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-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
all individuals: 1408
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8020
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6100
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.329915179136599e-5
allele num: 15798
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

DP
type: SiteQuality
SIO_000300: 1.325088e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.409e1

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.09e-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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bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.365372374283896e-5
allele num: 15710
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

FS
type: SiteQuality
SIO_000300: 1.8533e1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 1.240748e6

MQRankSum
type: SiteQuality
SIO_000300: 5.43e-1

MQ
type: SiteQuality
SIO_000300: 6.077e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.526e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-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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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7950
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.906931859072917e-5
allele num: 61138
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.240748e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 6.077e1

QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.8533e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -6.7e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.94e-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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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
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: 828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.655135886656295e-5
allele num: 60418
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5980
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African
type: Population
allele count: 3
allele frequency: 3.305420890260026e-4
allele num: 9076
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

DP
type: SiteQuality
SIO_000300: 1.197099e6

QD
type: SiteQuality
SIO_000300: 1.386e1

GenotypeQuality
all individuals: 741
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 664
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 11461
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7003
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1448
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5124
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1722
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1470
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3286
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15718
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9062
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.661074382910867e-5
allele num: 60202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15594
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.283697047496791e-4
allele num: 7790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.19e-1

DP
type: SiteQuality
SIO_000300: 1.187303e6

QD
type: SiteQuality
SIO_000300: 1.29e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

FS
type: SiteQuality
SIO_000300: 2.171e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 15088
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1042
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4962
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5402
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 472
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1818
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1572
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3098
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7219
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7774
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.030131341746073e-3
allele num: 15532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10090
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.110617503331852e-4
allele num: 9004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 824
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 19
allele frequency: 3.166772225740858e-4
allele num: 59998
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.34e0

DP
type: SiteQuality
SIO_000300: 1.17213e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.268e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

GenotypeQuality
all individuals: 11711
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14726
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 744
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variant carriers: 0

GenotypeQuality
all individuals: 4999
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variant carriers: 0

GenotypeQuality
all individuals: 5541
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variant carriers: 0

GenotypeQuality
all individuals: 1190
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variant carriers: 0

GenotypeQuality
all individuals: 1884
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 2192
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 738
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9004
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7764
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.669281874937402e-5
allele num: 59906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10082
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5932
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15560
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.164304e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.285e1

VQSLOD
type: SiteQuality
SIO_000300: 2.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
all individuals: 804
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11657
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5982
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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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variant carriers: 1

GenotypeQuality
all individuals: 2154
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 814
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8978
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.443298969072165e-5
allele num: 15520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59738
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 3.093e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

DP
type: SiteQuality
SIO_000300: 1.147212e6

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.895e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

QD
type: SiteQuality
SIO_000300: 1.343e1

GenotypeQuality
all individuals: 2193
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 887
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 591
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variant carriers: 0

GenotypeQuality
all individuals: 10734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9938
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.747865987381491e-5
allele num: 59278
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

FS
type: SiteQuality
SIO_000300: 2.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

QD
type: SiteQuality
SIO_000300: 1.15e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.128385e6

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 5224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1133
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2748
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5920
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.006238679814852e-4
allele num: 9938
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7662
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59278
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

FS
type: SiteQuality
SIO_000300: 2.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.645e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.15e1

DP
type: SiteQuality
SIO_000300: 1.128385e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.76e-1

GenotypeQuality
all individuals: 189
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8009
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 7.75e1
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GenotypeQuality
all individuals: 8737
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5258
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2191
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 305
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9732
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.713091444821324e-5
allele num: 58374
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.1e-2

DP
type: SiteQuality
SIO_000300: 1.102852e6

VQSLOD
type: SiteQuality
SIO_000300: 4.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

FS
type: SiteQuality
SIO_000300: 3.139e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

GenotypeQuality
all individuals: 8087
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2149
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6752
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.75e1
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GenotypeQuality
all individuals: 4337
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GenotypeQuality
all individuals: 1071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5292
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 7.5e0
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GenotypeQuality
all individuals: 7039
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 999
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.737317581653926e-5
allele num: 57560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7384
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5744
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.776e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.021e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.653e0

DP
type: SiteQuality
SIO_000300: 1.090522e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.213e0

QD
type: SiteQuality
SIO_000300: 3.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

GenotypeQuality
all individuals: 998
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1315
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1757
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2313
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 737
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10094
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 485
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GenotypeQuality
all individuals: 3128
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1107
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1022
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5275
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1074
bin: 7.25e1
variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7392
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9550
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.540222367560497e-5
allele num: 15290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57558
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.391e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.42e-1

DP
type: SiteQuality
SIO_000300: 1.089673e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.836e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.387e0

GenotypeQuality
all individuals: 7025
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1091
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2446
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7812
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34269
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16438
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.166316771635176e-4
allele num: 8574
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66112
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.913413e6

QD
type: SiteQuality
SIO_000300: 1.34e1

FS
type: SiteQuality
SIO_000300: 3.017e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.438e0

MQ
type: SiteQuality
SIO_000300: 5.887e1

MQRankSum
type: SiteQuality
SIO_000300: 2.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.409e0