5-96098856-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098856
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098856
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*48A>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+780T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+780T>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-96098859-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098859
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098859
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*45G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+783C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+783C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-96098863-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098863
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098863
    reference: chr 5
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*41T>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+787A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+787A>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

5-96098864-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098864
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098864
    reference: chr 5
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*40T>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+788A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+788A>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-96098865-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098865
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098865
    reference: chr 5
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*39T>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+789A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+789A>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD

5-96098866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098866
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098866
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*38C>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+790G>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+790G>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

5-96098871-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098871
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098871
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*33A>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+795T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+795T>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-96098873-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098873
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098872
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*30delT
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+798delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+798delA
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: TA
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-96098875-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098875
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098875
    reference: chr 5
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*29C>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+799G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+799G>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-96098881-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098881
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098881
    reference: chr 5
allele count: 122
allele frequency: 1.005787399627364e-3
allele num: 121298
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*23A>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+805T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+805T>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 3
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

5-96098885-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098885
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098885
    reference: chr 5
allele count: 149
allele frequency: 1.228399947236512e-3
allele num: 121296
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*19G>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+809C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+809C>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

5-96098885-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098885
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098885
    reference: chr 5
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*19G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+809C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+809C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-96098896-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098896
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098896
    reference: chr 5
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*8T>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+820A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+820A>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-96098897-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098897
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098897
    reference: chr 5
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*7A>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+821T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+821T>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum

5-96098899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098899
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098899
    reference: chr 5
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.*5C>T
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+823G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+823G>A
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

5-96098906-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098906
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098906
    reference: chr 5
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2845T>A
  hgvsp: ENSP00000296754.3:p.Ter949ArgextTer25
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+830A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+830A>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ter949ArgextTer25
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

5-96098909-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098909
    reference: chr 5
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2842G>A
  hgvsp: ENSP00000296754.3:p.Gly948Arg
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+833C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+833C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly948Arg
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum

5-96098911-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098911
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098911
    reference: chr 5
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2840C>A
  hgvsp: ENSP00000296754.3:p.Thr947Lys
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+835G>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+835G>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr947Lys
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

5-96098915-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098915
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098915
    reference: chr 5
allele count: 5
allele frequency: 4.123439278233189e-5
allele num: 121258
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2836G>A
  hgvsp: ENSP00000296754.3:p.Ala946Thr
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+839C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+839C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala946Thr
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: DP

5-96098916-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098916
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098916
    reference: chr 5
allele count: 6
allele frequency: 4.948780125699015e-5
allele num: 121242
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2835C>T
  hgvsp: ENST00000296754.3:c.2835C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+840G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+840G>A
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp945Asp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

5-96098928-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098928
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098928
    reference: chr 5
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2823T>C
  hgvsp: ENST00000296754.3:c.2823T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+852A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+852A>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp941Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-96098938-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098938
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098938
    reference: chr 5
allele count: 1
allele frequency: 8.25000825000825e-6
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-6T>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+862A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+862A>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2819-6T>A
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

5-96098940-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098940
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098940
    reference: chr 5
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-8A>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+864T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+864T>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.2819-8A>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

5-96098955-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098955
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098955
    reference: chr 5
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+879A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+879A>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-96098956-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098956
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098956
    reference: chr 5
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-24A>T
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+880T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+880T>A
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

5-96098970-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098970
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098970
    reference: chr 5
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-38G>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+894C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+894C>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-96098970-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098970
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098970
    reference: chr 5
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+894C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-38G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+894C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

5-96098971-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098971
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098971
    reference: chr 5
allele count: 4
allele frequency: 3.3028916816673e-5
allele num: 121106
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-39G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+895C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+895C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

5-96098972-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098972
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098972
    reference: chr 5
allele count: 10
allele frequency: 8.257638315441784e-5
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-40A>T
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+896T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+896T>A
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

5-96098976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098976
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098976
    reference: chr 5
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-44G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+900C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+900C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-96098978-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098978
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098978
    reference: chr 5
allele count: 113
allele frequency: 9.336528133520615e-4
allele num: 121030
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+902C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-46G>A
  variant of: http://identifiers.org/hgnc/18173
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

5-96098979-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098979
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098979
    reference: chr 5
allele count: 2
allele frequency: 1.653138483410755e-5
allele num: 120982
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1683+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-47C>T
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+903G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1866+903G>A
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: QD

5-96098983-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96098983
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96098983
    reference: chr 5
allele count: 2
allele frequency: 1.653029175964956e-5
allele num: 120990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.828+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1683+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1809+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.938+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.168+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.910+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1641+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1821+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1617+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.955+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1932+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1932+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1625+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1827+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1875+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.852+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1467+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-51T>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1641+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1578+907A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1644+907A>G
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

5-96100878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100878
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100878
    reference: chr 5
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.829-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1810-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1684-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.853-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.956-50T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1822-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1645-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1828-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1468-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1933-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1684-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1867-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1933-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1876-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1642-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1618-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-50T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-50T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.169-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1626-47T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1579-47T>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-96100901-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100901
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100901
    reference: chr 5
allele count: 9
allele frequency: 7.436541512427287e-5
allele num: 121024
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-1969T>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1828-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1579-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-27A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1933-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1810-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.853-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.956-27A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1468-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1822-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-27A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1933-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1684-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.939-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1867-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1684-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.169-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1626-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1642-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.829-24A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1876-24A>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

5-96100907-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100907
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100907
    reference: chr 5
allele count: 1
allele frequency: 8.259411599517651e-6
allele num: 121074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.939-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1626-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-21G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-1975C>T
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1579-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1684-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1822-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.829-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1933-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1867-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.853-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1642-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1468-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1933-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1684-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1810-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-21G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1618-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1876-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1828-18G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1645-18G>A
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum

http://identifiers.org/exac.variant/5-96100909-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100909
    reference: chr 5
allele count: 7
allele frequency: 5.780346820809248e-5
allele num: 121100
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1684-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1867-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.829-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1828-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1618-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.939-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1642-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1933-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-19A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.853-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-1977T>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1645-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1684-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1468-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-19A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1933-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.169-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1876-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1822-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1810-16A>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1626-16A>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

5-96100909-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100909
    reference: chr 5
allele count: 3
allele frequency: 2.477291494632535e-5
allele num: 121100
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1468-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-19A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1933-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1822-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1867-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1933-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1618-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1684-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1645-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1684-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1642-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.169-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1579-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1828-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.853-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.956-19A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-1977T>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.829-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-19A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1810-16A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1876-16A>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

5-96100911-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100911
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100911
    reference: chr 5
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-17T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1642-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1626-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.939-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1810-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.829-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1867-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1684-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1468-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1645-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1933-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.956-17T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1684-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-17T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-1979A>G
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1822-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1933-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1828-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.169-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.853-14T>C
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1579-14T>C
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-96100922-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100922
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100922
    reference: chr 5
allele count: 205
allele frequency: 1.69102847526974e-3
allele num: 121228
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-6C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.169-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1618-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1684-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1933-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1867-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1876-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1828-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.829-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1468-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1933-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1822-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-1990G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.939-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1579-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1642-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1684-3C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-6C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.853-3C>T
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1810-3C>T
num of homozygotes: 2
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

5-96100926-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100926
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100926
    reference: chr 5
allele count: 1
allele frequency: 8.246742536698004e-6
allele num: 121260
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1643A>G
  hgvsp: ENSP00000423638.1:p.Gln548Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1685A>G
  hgvsp: ENSP00000422325.1:p.Gln562Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1627A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1934A>G
  hgvsp: ENSP00000425721.1:p.Gln645Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1811A>G
  hgvsp: ENSP00000379157.2:p.Gln604Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.830A>G
  hgvsp: ENSP00000425787.1:p.Gln277Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1823A>G
  hgvsp: ENSP00000422677.1:p.Gln608Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.956-2A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1619A>G
  hgvsp: ENSP00000312523.5:p.Gln540Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.911-2A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1642-2A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1580A>G
  hgvsp: ENSP00000426946.1:p.Gln527Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1868A>G
  hgvsp: ENSP00000422176.1:p.Gln623Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1877A>G
  hgvsp: ENSP00000352098.4:p.Gln626Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1685A>G
  hgvsp: ENSP00000339914.3:p.Gln562Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1829A>G
  hgvsp: ENSP00000320319.7:p.Gln610Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1934A>G
  hgvsp: ENSP00000379158.1:p.Gln645Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.940A>G
  hgvsp: ENSP00000412374.2:p.Gln314Arg
  variant of: http://identifiers.org/hgnc/1515
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.1642-2A>G
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

5-96100929-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100929
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100929
    reference: chr 5
allele count: 23
allele frequency: 1.896625655572781e-4
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1583G>A
  hgvsp: ENSP00000426946.1:p.Ser528Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1646G>A
  hgvsp: ENSP00000423638.1:p.Ser549Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1871G>A
  hgvsp: ENSP00000422176.1:p.Ser624Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1688G>A
  hgvsp: ENSP00000422325.1:p.Ser563Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1622G>A
  hgvsp: ENSP00000312523.5:p.Ser541Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1472G>A
  hgvsp: ENSP00000425670.1:p.Ser491Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1832G>A
  hgvsp: ENSP00000320319.7:p.Ser611Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1937G>A
  hgvsp: ENSP00000379158.1:p.Ser646Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1630G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.833G>A
  hgvsp: ENSP00000425787.1:p.Ser278Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1826G>A
  hgvsp: ENSP00000422677.1:p.Ser609Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.912G>A
  hgvsp: ENSP00000432878.1:p.Ser305Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1814G>A
  hgvsp: ENSP00000379157.2:p.Ser605Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1880G>A
  hgvsp: ENSP00000352098.4:p.Ser627Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.957G>A
  hgvsp: ENSP00000424160.1:p.Ser320Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.173G>A
  hgvsp: ENSP00000427195.1:p.Ser58Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.943G>A
  hgvsp: ENSP00000412374.2:p.Ser315Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-1997C>T
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1688G>A
  hgvsp: ENSP00000339914.3:p.Ser563Asn
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser605Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

5-96100930-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100930
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100930
    reference: chr 5
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1938T>A
  hgvsp: ENSP00000425721.1:p.Ser646Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1833T>A
  hgvsp: ENSP00000320319.7:p.Ser611Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1689T>A
  hgvsp: ENSP00000422325.1:p.Ser563Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.834T>A
  hgvsp: ENSP00000425787.1:p.Ser278Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1815T>A
  hgvsp: ENSP00000379157.2:p.Ser605Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1938T>A
  hgvsp: ENSP00000379158.1:p.Ser646Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1644T>A
  hgvsp: ENSP00000421130.1:p.Ser548Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1623T>A
  hgvsp: ENSP00000312523.5:p.Ser541Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1631T>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.174T>A
  hgvsp: ENSP00000427195.1:p.Ser58Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.958T>A
  hgvsp: ENSP00000424160.1:p.Ser320Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.858T>A
  hgvsp: ENSP00000422929.1:p.Ser286Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1872T>A
  hgvsp: ENSP00000422176.1:p.Ser624Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1881T>A
  hgvsp: ENSP00000352098.4:p.Ser627Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1827T>A
  hgvsp: ENSP00000422677.1:p.Ser609Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1473T>A
  hgvsp: ENSP00000425670.1:p.Ser491Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1650T>A
  hgvsp: ENSP00000343421.3:p.Ser550Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.944T>A
  hgvsp: ENSP00000412374.2:p.Ser315Arg
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1689T>A
  hgvsp: ENSP00000339914.3:p.Ser563Arg
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser605Arg
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

5-96100939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100939
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100939
    reference: chr 5
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.867C>T
  hgvsp: ENST00000515663.1:c.867C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1698C>T
  hgvsp: ENST00000341926.3:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1890C>T
  hgvsp: ENST00000359176.4:c.1890C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.922C>T
  hgvsp: ENST00000484552.1:c.922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1947C>T
  hgvsp: ENST00000395813.1:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1947C>T
  hgvsp: ENST00000508830.1:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1659C>T
  hgvsp: ENST00000338252.3:c.1659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1842C>T
  hgvsp: ENST00000325674.7:c.1842C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1698C>T
  hgvsp: ENST00000510156.1:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1593C>T
  hgvsp: ENST00000509903.1:c.1593C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.843C>T
  hgvsp: ENST00000508579.1:c.843C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1824C>T
  hgvsp: ENST00000395812.2:c.1824C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1836C>T
  hgvsp: ENST00000508608.1:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1482C>T
  hgvsp: ENST00000504465.1:c.1482C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.953C>T
  hgvsp: ENST00000437034.2:c.953C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1881C>T
  hgvsp: ENST00000510756.1:c.1881C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1632C>T
  hgvsp: ENST00000309190.5:c.1632C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1653C>T
  hgvsp: ENST00000511049.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.967C>T
  hgvsp: ENST00000510500.1:c.967C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp608Asp
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS

5-96100942-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100942
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100942
    reference: chr 5
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1845C>T
  hgvsp: ENST00000325674.7:c.1845C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2010G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.925C>T
  hgvsp: ENST00000484552.1:c.925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1884C>T
  hgvsp: ENST00000510756.1:c.1884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.970C>T
  hgvsp: ENST00000510500.1:c.970C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1950C>T
  hgvsp: ENST00000508830.1:c.1950C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1701C>T
  hgvsp: ENST00000510156.1:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1701C>T
  hgvsp: ENST00000341926.3:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1839C>T
  hgvsp: ENST00000508608.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1596C>T
  hgvsp: ENST00000509903.1:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1662C>T
  hgvsp: ENST00000338252.3:c.1662C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1485C>T
  hgvsp: ENST00000504465.1:c.1485C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.870C>T
  hgvsp: ENST00000515663.1:c.870C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1659C>T
  hgvsp: ENST00000511782.1:c.1659C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1643C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1893C>T
  hgvsp: ENST00000359176.4:c.1893C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.186C>T
  hgvsp: ENST00000510098.1:c.186C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1656C>T
  hgvsp: ENST00000511049.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1827C>T
  hgvsp: ENST00000395812.2:c.1827C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu609Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum

5-96100942-CGATGATGCCTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100942
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100930
    reference: chr 5
allele count: 1
allele frequency: 8.24334350012365e-6
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsp: ENSP00000320319.7:p.Asp617_Asp620del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsp: ENSP00000422929.1:p.Asp292_Asp295del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsp: ENSP00000425670.1:p.Asp497_Asp500del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsp: ENSP00000412374.2:p.Asp321_Asp324del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsp: ENSP00000425721.1:p.Asp652_Asp655del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsp: ENSP00000423638.1:p.Asp555_Asp558del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsp: ENSP00000422325.1:p.Asp569_Asp572del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsp: ENSP00000339914.3:p.Asp569_Asp572del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsp: ENSP00000352098.4:p.Asp633_Asp636del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsp: ENSP00000432878.1:p.Asp311_Asp314del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsp: ENSP00000424160.1:p.Asp326_Asp329del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsp: ENSP00000422176.1:p.Asp630_Asp633del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsp: ENSP00000427195.1:p.Asp64_Asp67del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsp: ENSP00000312523.5:p.Asp547_Asp550del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsp: ENSP00000425787.1:p.Asp284_Asp287del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsp: ENSP00000343421.3:p.Asp556_Asp559del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsp: ENSP00000379157.2:p.Asp611_Asp614del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsp: ENSP00000422677.1:p.Asp615_Asp618del
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsp: ENSP00000379158.1:p.Asp652_Asp655del
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp611_Asp614del
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: CGATGATGCCTTG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-96100943-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100943
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100943
    reference: chr 5
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2011C>T
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1486G>A
  hgvsp: ENSP00000425670.1:p.Asp496Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1660G>A
  hgvsp: ENSP00000423638.1:p.Asp554Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1951G>A
  hgvsp: ENSP00000379158.1:p.Asp651Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.971G>A
  hgvsp: ENSP00000424160.1:p.Asp325Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1657G>A
  hgvsp: ENSP00000421130.1:p.Asp553Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1702G>A
  hgvsp: ENSP00000422325.1:p.Asp568Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1663G>A
  hgvsp: ENSP00000343421.3:p.Asp555Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1885G>A
  hgvsp: ENSP00000422176.1:p.Asp629Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1702G>A
  hgvsp: ENSP00000339914.3:p.Asp568Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1846G>A
  hgvsp: ENSP00000320319.7:p.Asp616Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1828G>A
  hgvsp: ENSP00000379157.2:p.Asp610Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1894G>A
  hgvsp: ENSP00000352098.4:p.Asp632Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.847G>A
  hgvsp: ENSP00000425787.1:p.Asp283Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1597G>A
  hgvsp: ENSP00000426946.1:p.Asp533Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1840G>A
  hgvsp: ENSP00000422677.1:p.Asp614Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1636G>A
  hgvsp: ENSP00000312523.5:p.Asp546Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.871G>A
  hgvsp: ENSP00000422929.1:p.Asp291Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.926G>A
  hgvsp: ENSP00000432878.1:p.Asp310Asn
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp610Asn
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-96100946-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100946
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100946
    reference: chr 5
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1660G>A
  hgvsp: ENSP00000421130.1:p.Asp554Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1705G>A
  hgvsp: ENSP00000422325.1:p.Asp569Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1647G>A
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.190G>A
  hgvsp: ENSP00000427195.1:p.Asp64Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1600G>A
  hgvsp: ENSP00000426946.1:p.Asp534Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1843G>A
  hgvsp: ENSP00000422677.1:p.Asp615Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.974G>A
  hgvsp: ENSP00000424160.1:p.Asp326Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1954G>A
  hgvsp: ENSP00000379158.1:p.Asp652Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1888G>A
  hgvsp: ENSP00000422176.1:p.Asp630Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1897G>A
  hgvsp: ENSP00000352098.4:p.Asp633Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.874G>A
  hgvsp: ENSP00000422929.1:p.Asp292Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1831G>A
  hgvsp: ENSP00000379157.2:p.Asp611Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1489G>A
  hgvsp: ENSP00000425670.1:p.Asp497Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1705G>A
  hgvsp: ENSP00000339914.3:p.Asp569Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.929G>A
  hgvsp: ENSP00000432878.1:p.Asp311Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.960G>A
  hgvsp: ENSP00000412374.2:p.Asp321Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.850G>A
  hgvsp: ENSP00000425787.1:p.Asp284Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1666G>A
  hgvsp: ENSP00000343421.3:p.Asp556Asn
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1849G>A
  hgvsp: ENSP00000320319.7:p.Asp617Asn
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp611Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

5-96100955-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100955
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100955
    reference: chr 5
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.983G>C
  hgvsp: ENSP00000424160.1:p.Asp329His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1858G>C
  hgvsp: ENSP00000320319.7:p.Asp620His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.199G>C
  hgvsp: ENSP00000427195.1:p.Asp67His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1963G>C
  hgvsp: ENSP00000379158.1:p.Asp655His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1648G>C
  hgvsp: ENSP00000312523.5:p.Asp550His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.938G>C
  hgvsp: ENSP00000432878.1:p.Asp314His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1852G>C
  hgvsp: ENSP00000422677.1:p.Asp618His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1672G>C
  hgvsp: ENSP00000423638.1:p.Asp558His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1963G>C
  hgvsp: ENSP00000425721.1:p.Asp655His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1714G>C
  hgvsp: ENSP00000339914.3:p.Asp572His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.969G>C
  hgvsp: ENSP00000412374.2:p.Asp324His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.859G>C
  hgvsp: ENSP00000425787.1:p.Asp287His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1498G>C
  hgvsp: ENSP00000425670.1:p.Asp500His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1906G>C
  hgvsp: ENSP00000352098.4:p.Asp636His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1609G>C
  hgvsp: ENSP00000426946.1:p.Asp537His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1840G>C
  hgvsp: ENSP00000379157.2:p.Asp614His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1669G>C
  hgvsp: ENSP00000421130.1:p.Asp557His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1714G>C
  hgvsp: ENSP00000422325.1:p.Asp572His
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2023C>G
  variant of: http://identifiers.org/hgnc/18173
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp614His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

5-96100960-ACT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100960
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100958
    reference: chr 5
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1862_1863delCT
  hgvsp: ENSP00000422677.1:p.Ser621Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.979_980delCT
  hgvsp: ENSP00000412374.2:p.Ser327Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1868_1869delCT
  hgvsp: ENSP00000320319.7:p.Ser623Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.893_894delCT
  hgvsp: ENSP00000422929.1:p.Ser298Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1973_1974delCT
  hgvsp: ENSP00000379158.1:p.Ser658Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1973_1974delCT
  hgvsp: ENSP00000425721.1:p.Ser658Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1685_1686delCT
  hgvsp: ENSP00000343421.3:p.Ser562Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1682_1683delCT
  hgvsp: ENSP00000423638.1:p.Ser561Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1508_1509delCT
  hgvsp: ENSP00000425670.1:p.Ser503Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.948_949delCT
  hgvsp: ENSP00000432878.1:p.Ser317Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.209_210delCT
  hgvsp: ENSP00000427195.1:p.Ser70Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1907_1908delCT
  hgvsp: ENSP00000422176.1:p.Ser636Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1679_1680delCT
  hgvsp: ENSP00000421130.1:p.Ser560Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1916_1917delCT
  hgvsp: ENSP00000352098.4:p.Ser639Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.869_870delCT
  hgvsp: ENSP00000425787.1:p.Ser290Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1850_1851delCT
  hgvsp: ENSP00000379157.2:p.Ser617Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1619_1620delCT
  hgvsp: ENSP00000426946.1:p.Ser540Ter
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2030_2819-2029delAG
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1658_1659delCT
  hgvsp: ENSP00000312523.5:p.Ser553Ter
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser617Ter
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: ACT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-96100961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100961
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100961
    reference: chr 5
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1969C>T
  hgvsp: ENSP00000425721.1:p.Leu657Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1662C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1678C>T
  hgvsp: ENSP00000423638.1:p.Leu560Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1858C>T
  hgvsp: ENSP00000422677.1:p.Leu620Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2029G>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1720C>T
  hgvsp: ENSP00000339914.3:p.Leu574Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1969C>T
  hgvsp: ENSP00000379158.1:p.Leu657Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.865C>T
  hgvsp: ENSP00000425787.1:p.Leu289Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1504C>T
  hgvsp: ENSP00000425670.1:p.Leu502Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.944C>T
  hgvsp: ENSP00000432878.1:p.Leu316Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.989C>T
  hgvsp: ENSP00000424160.1:p.Leu331Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1720C>T
  hgvsp: ENSP00000422325.1:p.Leu574Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1912C>T
  hgvsp: ENSP00000352098.4:p.Leu638Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.889C>T
  hgvsp: ENSP00000422929.1:p.Leu297Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1675C>T
  hgvsp: ENSP00000421130.1:p.Leu559Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1846C>T
  hgvsp: ENSP00000379157.2:p.Leu616Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1654C>T
  hgvsp: ENSP00000312523.5:p.Leu552Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1903C>T
  hgvsp: ENSP00000422176.1:p.Leu635Phe
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1615C>T
  hgvsp: ENSP00000426946.1:p.Leu539Phe
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu616Phe
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD

5-96100963-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100963
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100963
    reference: chr 5
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1506C>G
  hgvsp: ENST00000504465.1:c.1506C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1971C>G
  hgvsp: ENST00000395813.1:c.1971C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2031G>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1905C>G
  hgvsp: ENST00000510756.1:c.1905C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.867C>G
  hgvsp: ENST00000508579.1:c.867C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1860C>G
  hgvsp: ENST00000508608.1:c.1860C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1914C>G
  hgvsp: ENST00000359176.4:c.1914C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1722C>G
  hgvsp: ENST00000510156.1:c.1722C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1680C>G
  hgvsp: ENST00000511782.1:c.1680C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.977C>G
  hgvsp: ENST00000437034.2:c.977C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.991C>G
  hgvsp: ENST00000510500.1:c.991C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1677C>G
  hgvsp: ENST00000511049.1:c.1677C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1971C>G
  hgvsp: ENST00000508830.1:c.1971C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1866C>G
  hgvsp: ENST00000325674.7:c.1866C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.891C>G
  hgvsp: ENST00000515663.1:c.891C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1683C>G
  hgvsp: ENST00000338252.3:c.1683C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1656C>G
  hgvsp: ENST00000309190.5:c.1656C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.207C>G
  hgvsp: ENST00000510098.1:c.207C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.946C>G
  hgvsp: ENST00000484552.1:c.946C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu616Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

5-96100965-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100965
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100965
    reference: chr 5
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.948C>G
  hgvsp: ENSP00000432878.1:p.Ser317Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1679C>G
  hgvsp: ENSP00000421130.1:p.Ser560Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1973C>G
  hgvsp: ENSP00000379158.1:p.Ser658Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.869C>G
  hgvsp: ENSP00000425787.1:p.Ser290Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1508C>G
  hgvsp: ENSP00000425670.1:p.Ser503Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1666C>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.993C>G
  hgvsp: ENSP00000424160.1:p.Ser332Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1973C>G
  hgvsp: ENSP00000425721.1:p.Ser658Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1862C>G
  hgvsp: ENSP00000422677.1:p.Ser621Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1658C>G
  hgvsp: ENSP00000312523.5:p.Ser553Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1682C>G
  hgvsp: ENSP00000423638.1:p.Ser561Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1907C>G
  hgvsp: ENSP00000422176.1:p.Ser636Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.209C>G
  hgvsp: ENSP00000427195.1:p.Ser70Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.893C>G
  hgvsp: ENSP00000422929.1:p.Ser298Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1868C>G
  hgvsp: ENSP00000320319.7:p.Ser623Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1724C>G
  hgvsp: ENSP00000422325.1:p.Ser575Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1619C>G
  hgvsp: ENSP00000426946.1:p.Ser540Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1724C>G
  hgvsp: ENSP00000339914.3:p.Ser575Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1916C>G
  hgvsp: ENSP00000352098.4:p.Ser639Cys
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser617Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

5-96100970-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100970
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100970
    reference: chr 5
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1663A>T
  hgvsp: ENSP00000312523.5:p.Ser555Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1513A>T
  hgvsp: ENSP00000425670.1:p.Ser505Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.898A>T
  hgvsp: ENSP00000422929.1:p.Ser300Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.953A>T
  hgvsp: ENSP00000432878.1:p.Ser319Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1855A>T
  hgvsp: ENSP00000379157.2:p.Ser619Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1729A>T
  hgvsp: ENSP00000339914.3:p.Ser577Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1978A>T
  hgvsp: ENSP00000379158.1:p.Ser660Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1912A>T
  hgvsp: ENSP00000422176.1:p.Ser638Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1671A>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.214A>T
  hgvsp: ENSP00000427195.1:p.Ser72Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.984A>T
  hgvsp: ENSP00000412374.2:p.Ser329Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2038T>A
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1921A>T
  hgvsp: ENSP00000352098.4:p.Ser641Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1684A>T
  hgvsp: ENSP00000421130.1:p.Ser562Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1729A>T
  hgvsp: ENSP00000422325.1:p.Ser577Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.874A>T
  hgvsp: ENSP00000425787.1:p.Ser292Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1978A>T
  hgvsp: ENSP00000425721.1:p.Ser660Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1873A>T
  hgvsp: ENSP00000320319.7:p.Ser625Cys
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1624A>T
  hgvsp: ENSP00000426946.1:p.Ser542Cys
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser619Cys
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

5-96100977-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100977
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100976
    reference: chr 5
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1920delA
  hgvsp: ENSP00000422176.1:p.Gln641LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1881delA
  hgvsp: ENSP00000320319.7:p.Gln628LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1692delA
  hgvsp: ENSP00000421130.1:p.Gln565LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1521delA
  hgvsp: ENSP00000425670.1:p.Gln508LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1863delA
  hgvsp: ENSP00000379157.2:p.Gln622LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.906delA
  hgvsp: ENSP00000422929.1:p.Gln303LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1875delA
  hgvsp: ENSP00000422677.1:p.Gln626LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.882delA
  hgvsp: ENSP00000425787.1:p.Gln295LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.1006delA
  hgvsp: ENSP00000424160.1:p.Gln337LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.1986delA
  hgvsp: ENSP00000379158.1:p.Gln663LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.1986delA
  hgvsp: ENSP00000425721.1:p.Gln663LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1671delA
  hgvsp: ENSP00000312523.5:p.Gln558LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1632delA
  hgvsp: ENSP00000426946.1:p.Gln545LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1695delA
  hgvsp: ENSP00000423638.1:p.Gln566LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1737delA
  hgvsp: ENSP00000339914.3:p.Gln580LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.961delA
  hgvsp: ENSP00000432878.1:p.Gln322LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1737delA
  hgvsp: ENSP00000422325.1:p.Gln580LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1679delA
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.992delA
  hgvsp: ENSP00000412374.2:p.Gln332LysfsTer16
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln622LysfsTer16
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: GA
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-96100994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96100994
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96100994
    reference: chr 5
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.2002C>T
  hgvsp: ENSP00000379158.1:p.Pro668Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1891C>T
  hgvsp: ENSP00000422677.1:p.Pro631Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425787
  ensembl transcript: ENST00000508579
  gene symbol: CAST
  hgvsc: ENST00000508579.1:c.898C>T
  hgvsp: ENSP00000425787.1:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.1022C>T
  hgvsp: ENSP00000424160.1:p.Pro342Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1879C>T
  hgvsp: ENSP00000379157.2:p.Pro627Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1537C>T
  hgvsp: ENSP00000425670.1:p.Pro513Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.2002C>T
  hgvsp: ENSP00000425721.1:p.Pro668Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.922C>T
  hgvsp: ENSP00000422929.1:p.Pro308Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1711C>T
  hgvsp: ENSP00000423638.1:p.Pro571Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1648C>T
  hgvsp: ENSP00000426946.1:p.Pro550Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1945C>T
  hgvsp: ENSP00000352098.4:p.Pro649Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.977C>T
  hgvsp: ENSP00000432878.1:p.Pro327Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.1008C>T
  hgvsp: ENSP00000412374.2:p.Pro337Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1897C>T
  hgvsp: ENSP00000320319.7:p.Pro633Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1708C>T
  hgvsp: ENSP00000421130.1:p.Pro570Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1687C>T
  hgvsp: ENSP00000312523.5:p.Pro563Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1753C>T
  hgvsp: ENSP00000339914.3:p.Pro585Ser
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1695C>T
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.238C>T
  hgvsp: ENSP00000427195.1:p.Pro80Ser
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro627Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ

5-96101011-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96101011
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96101011
    reference: chr 5
allele count: 1
allele frequency: 8.265282507356101e-6
allele num: 120988
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1896A>G
  hgvsp: ENST00000395812.2:c.1896A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2079T>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.2019A>G
  hgvsp: ENST00000395813.1:c.2019A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1770A>G
  hgvsp: ENST00000510156.1:c.1770A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1953A>G
  hgvsp: ENST00000510756.1:c.1953A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.939A>G
  hgvsp: ENST00000515663.1:c.939A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.2019A>G
  hgvsp: ENST00000508830.1:c.2019A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.994A>G
  hgvsp: ENST00000484552.1:c.994A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1770A>G
  hgvsp: ENST00000341926.3:c.1770A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1712A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000343421
  ensembl transcript: ENST00000338252
  gene symbol: CAST
  hgvsc: ENST00000338252.3:c.1731A>G
  hgvsp: ENST00000338252.3:c.1731A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1728A>G
  hgvsp: ENST00000511782.1:c.1728A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1962A>G
  hgvsp: ENST00000359176.4:c.1962A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1725A>G
  hgvsp: ENST00000511049.1:c.1725A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1554A>G
  hgvsp: ENST00000504465.1:c.1554A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1665A>G
  hgvsp: ENST00000509903.1:c.1665A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1914A>G
  hgvsp: ENST00000325674.7:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.1039A>G
  hgvsp: ENST00000510500.1:c.1039A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.255A>G
  hgvsp: ENST00000510098.1:c.255A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro632Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-96101019-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96101019
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96101019
    reference: chr 5
allele count: 1
allele frequency: 8.314901967305805e-6
allele num: 120266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000424160
  ensembl transcript: ENST00000510500
  gene symbol: CAST
  hgvsc: ENST00000510500.1:c.1047A>G
  hgvsp: ENSP00000424160.1:p.Asp350Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000164307
  ensembl protein: ENSP00000296754
  ensembl transcript: ENST00000296754
  gene symbol: ERAP1
  hgvsc: ENST00000296754.3:c.2819-2087T>C
  variant of: http://identifiers.org/hgnc/18173
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379157
  ensembl transcript: ENST00000395812
  gene symbol: CAST
  hgvsc: ENST00000395812.2:c.1904A>G
  hgvsp: ENSP00000379157.2:p.Asp635Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422325
  ensembl transcript: ENST00000510156
  gene symbol: CAST
  hgvsc: ENST00000510156.1:c.1778A>G
  hgvsp: ENSP00000422325.1:p.Asp593Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422176
  ensembl transcript: ENST00000510756
  gene symbol: CAST
  hgvsc: ENST00000510756.1:c.1961A>G
  hgvsp: ENSP00000422176.1:p.Asp654Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425670
  ensembl transcript: ENST00000504465
  gene symbol: CAST
  hgvsc: ENST00000504465.1:c.1562A>G
  hgvsp: ENSP00000425670.1:p.Asp521Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000320319
  ensembl transcript: ENST00000325674
  gene symbol: CAST
  hgvsc: ENST00000325674.7:c.1922A>G
  hgvsp: ENSP00000320319.7:p.Asp641Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000312523
  ensembl transcript: ENST00000309190
  gene symbol: CAST
  hgvsc: ENST00000309190.5:c.1712A>G
  hgvsp: ENSP00000312523.5:p.Asp571Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000432878
  ensembl transcript: ENST00000484552
  gene symbol: CAST
  hgvsc: ENST00000484552.1:c.1002A>G
  hgvsp: ENSP00000432878.1:p.Asp335Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1916A>G
  hgvsp: ENSP00000422677.1:p.Asp639Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000339914
  ensembl transcript: ENST00000341926
  gene symbol: CAST
  hgvsc: ENST00000341926.3:c.1778A>G
  hgvsp: ENSP00000339914.3:p.Asp593Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000421130
  ensembl transcript: ENST00000511049
  gene symbol: CAST
  hgvsc: ENST00000511049.1:c.1733A>G
  hgvsp: ENSP00000421130.1:p.Asp578Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000427195
  ensembl transcript: ENST00000510098
  gene symbol: CAST
  hgvsc: ENST00000510098.1:c.263A>G
  hgvsp: ENSP00000427195.1:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000423638
  ensembl transcript: ENST00000511782
  gene symbol: CAST
  hgvsc: ENST00000511782.1:c.1736A>G
  hgvsp: ENSP00000423638.1:p.Asp579Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.2027A>G
  hgvsp: ENSP00000379158.1:p.Asp676Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000153113
  ensembl transcript: ENST00000348386
  gene symbol: CAST
  hgvsc: ENST00000348386.3:n.1720A>G
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422929
  ensembl transcript: ENST00000515663
  gene symbol: CAST
  hgvsc: ENST00000515663.1:c.947A>G
  hgvsp: ENSP00000422929.1:p.Asp316Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1970A>G
  hgvsp: ENSP00000352098.4:p.Asp657Gly
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.2027A>G
  hgvsp: ENSP00000425721.1:p.Asp676Gly
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp635Gly
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-96101025-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 96101025
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 96101025
    reference: chr 5
allele count: 2
allele frequency: 1.809856478381264e-5
allele num: 110506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000425721
  ensembl transcript: ENST00000508830
  gene symbol: CAST
  hgvsc: ENST00000508830.1:c.2033T>A
  hgvsp: ENSP00000425721.1:p.Val678Glu
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000426946
  ensembl transcript: ENST00000509903
  gene symbol: CAST
  hgvsc: ENST00000509903.1:c.1679T>A
  hgvsp: ENSP00000426946.1:p.Val560Glu
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000352098
  ensembl transcript: ENST00000359176
  gene symbol: CAST
  hgvsc: ENST00000359176.4:c.1976T>A
  hgvsp: ENSP00000352098.4:p.Val659Glu
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000422677
  ensembl transcript: ENST00000508608
  gene symbol: CAST
  hgvsc: ENST00000508608.1:c.1922T>A
  hgvsp: ENSP00000422677.1:p.Val641Glu
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000379158
  ensembl transcript: ENST00000395813
  gene symbol: CAST
  hgvsc: ENST00000395813.1:c.2033T>A
  hgvsp: ENSP00000379158.1:p.Val678Glu
  variant of: http://identifiers.org/hgnc/1515
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000153113
  ensembl protein: ENSP00000412374
  ensembl transcript: ENST00000437034
  gene symbol: CAST
  hgvsc: ENST00000437034.2:c.1039T>A
  hgvsp: ENSP00000412374.2:p.Val347Glu
  variant of: http://identifiers.org/hgnc/1515
canonical: true
consequence: missense
filter: PASS
hgvs: p.Val637Glu
num of homozygotes: 0
reference allele: T

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422677
ensembl transcript: ENST00000508608
gene symbol: CAST
hgvsc: ENST00000508608.1:c.1821+780T>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422325
ensembl transcript: ENST00000510156
gene symbol: CAST
hgvsc: ENST00000510156.1:c.1683+780T>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 804
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8653
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6826
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4542
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4009
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7884
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2131
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6536
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3866
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34425
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3871
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
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: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.983974e6

FS
type: SiteQuality
SIO_000300: 9.076000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -1.106e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 7.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422677
ensembl transcript: ENST00000508608
gene symbol: CAST
hgvsc: ENST00000508608.1:c.1821+783C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.938+783C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6828
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7884
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8651
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4009
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9068
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4542
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1215
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 862
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 803
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6540
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34423
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3861
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.308e0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 8.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.983929e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.215e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425787
ensembl transcript: ENST00000508579
gene symbol: CAST
hgvsc: ENST00000508579.1:c.828+787A>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.938+787A>G
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7884
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4542
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9068
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8652
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4009
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 862
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34424
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.03e-1

FS
type: SiteQuality
SIO_000300: 3.765e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

MQ
type: SiteQuality
SIO_000300: 5.86e1

QD
type: SiteQuality
SIO_000300: 1.392e1

VQSLOD
type: SiteQuality
SIO_000300: -1.573e0

DP
type: SiteQuality
SIO_000300: 2.983899e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.955+788A>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422176
ensembl transcript: ENST00000510756
gene symbol: CAST
hgvsc: ENST00000510756.1:c.1866+788A>G
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 4542
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7884
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8652
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 959
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4009
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34423
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.324e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e0

DP
type: SiteQuality
SIO_000300: 2.983875e6

FS
type: SiteQuality
SIO_000300: 2.661e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+789A>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000352098
ensembl transcript: ENST00000359176
gene symbol: CAST
hgvsc: ENST00000359176.4:c.1875+789A>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 9069
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7886
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1222
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8652
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1315
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4542
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6554
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34423
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 2.983786e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.251e1

MQRankSum
type: SiteQuality
SIO_000300: -7.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.05e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+790G>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425670
ensembl transcript: ENST00000504465
gene symbol: CAST
hgvsc: ENST00000504465.1:c.1467+790G>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 6827
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6174
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9068
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8652
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4543
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7887
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 6558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34422
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3870
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.117e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.72e-1

DP
type: SiteQuality
SIO_000300: 2.983757e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

FS
type: SiteQuality
SIO_000300: 1.1831e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.848e0

QD
type: SiteQuality
SIO_000300: 1.034e1

MQ
type: SiteQuality
SIO_000300: 5.878e1

VQSLOD
type: SiteQuality
SIO_000300: -1.059e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425670
ensembl transcript: ENST00000504465
gene symbol: CAST
hgvsc: ENST00000504465.1:c.1467+795T>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425721
ensembl transcript: ENST00000508830
gene symbol: CAST
hgvsc: ENST00000508830.1:c.1932+795T>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6831
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4543
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1228
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6173
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7887
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9068
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8650
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6569
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34421
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2130
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 3.951e0

QD
type: SiteQuality
SIO_000300: 1.147e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.21e0

DP
type: SiteQuality
SIO_000300: 2.983727e6

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1683+798delA
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425721
ensembl transcript: ENST00000508830
gene symbol: CAST
hgvsc: ENST00000508830.1:c.1932+798delA
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 7887
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4542
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8650
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9067
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1227
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6173
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6834
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6571
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34420
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.78e-1

QD
type: SiteQuality
SIO_000300: 1.62e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

DP
type: SiteQuality
SIO_000300: 2.983697e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+799G>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000320319
ensembl transcript: ENST00000325674
gene symbol: CAST
hgvsc: ENST00000325674.7:c.1827+799G>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4542
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 802
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 861
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8650
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1228
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7887
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6835
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6172
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9067
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4008
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34420
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6578
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3732
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3869
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3807
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.553e0

QD
type: SiteQuality
SIO_000300: 1.628e1

MQRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

DP
type: SiteQuality
SIO_000300: 2.983675e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422677
ensembl transcript: ENST00000508608
gene symbol: CAST
hgvsc: ENST00000508608.1:c.1821+805T>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1578+805T>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 9066
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1227
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2254
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4545
bin: 5.25e1
variant carriers: 3

GenotypeDepth
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1683
bin: 6.75e1
variant carriers: 3

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

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 6842
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 955
bin: 8.25e1
variant carriers: 4

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

GenotypeDepth
all individuals: 8647
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6169
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1314
bin: 7.25e1
variant carriers: 3

GenotypeDepth
all individuals: 852
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 796
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 7888
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 1035
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4034
bin: 9.75e1
variant carriers: 86

GenotypeQuality
all individuals: 34422
bin: 9.75e1
variant carriers: 119

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6575
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3805
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3731
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 121
allele frequency: 7.328891580860085e-3
allele num: 16510
num of homozygotes: 3

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 11522
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.985675e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.58e0

QD
type: SiteQuality
SIO_000300: 1.374e1

FS
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.59e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1625+809C>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.168+809C>G
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1237
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 4546
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1317
bin: 7.25e1
variant carriers: 8

GenotypeDepth
all individuals: 7898
bin: 4.25e1
variant carriers: 3

GenotypeDepth
all individuals: 9072
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8652
bin: 3.75e1
variant carriers: 3

GenotypeDepth
all individuals: 793
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1680
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 2261
bin: 6.25e1
variant carriers: 8

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 951
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6853
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3985
bin: 9.75e1
variant carriers: 96

GenotypeDepth
all individuals: 3286
bin: 5.75e1
variant carriers: 11

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 3736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34396
bin: 9.75e1
variant carriers: 148

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 7
allele frequency: 6.075334143377885e-4
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 138
allele frequency: 1.326157985777436e-2
allele num: 10406
num of homozygotes: 1

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

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

FS
type: SiteQuality
SIO_000300: 5.2e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 2.981555e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425670
ensembl transcript: ENST00000504465
gene symbol: CAST
hgvsc: ENST00000504465.1:c.1467+809C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1625+809C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 2261
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9072
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6853
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8652
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 793
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3985
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7898
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1680
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1237
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3286
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1317
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34396
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6591
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3736
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.900000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 2.981555e6

VQSLOD
type: SiteQuality
SIO_000300: 4.48e0

MQRankSum
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.54e-1

QD
type: SiteQuality
SIO_000300: 1.302e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.08e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000352098
ensembl transcript: ENST00000359176
gene symbol: CAST
hgvsc: ENST00000359176.4:c.1875+820A>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1578+820A>G
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 6184
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6878
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1244
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9088
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8673
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2259
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7908
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 795
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 66
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6612
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3866
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3881
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499565126113427e-5
allele num: 66686
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.865e1

FS
type: SiteQuality
SIO_000300: 2.549e0

DP
type: SiteQuality
SIO_000300: 2.970474e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.13e-1

QD
type: SiteQuality
SIO_000300: 1.814e1

VQSLOD
type: SiteQuality
SIO_000300: -1.721e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+821T>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422325
ensembl transcript: ENST00000510156
gene symbol: CAST
hgvsc: ENST00000510156.1:c.1683+821T>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9089
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1244
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6185
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6876
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8674
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2259
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3892
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7908
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3866
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6612
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.2e-2

FS
type: SiteQuality
SIO_000300: 5.73e-1

QD
type: SiteQuality
SIO_000300: 8.140000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

DP
type: SiteQuality
SIO_000300: 2.970469e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.411e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.03e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.02e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1578+823G>A
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.938+823G>A
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6185
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8676
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6876
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2259
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7908
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3891
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1243
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9086
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6613
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3820
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.529e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.638e0

VQSLOD
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 1.187e1

DP
type: SiteQuality
SIO_000300: 2.970381e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.227e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422677
ensembl transcript: ENST00000508608
gene symbol: CAST
hgvsc: ENST00000508608.1:c.1821+830A>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1683+830A>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3891
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6185
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1242
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9084
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 8671
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7908
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6876
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 795
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2259
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3880
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3746
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.303e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.970109e6

FS
type: SiteQuality
SIO_000300: 2.851e0

MQRankSum
type: SiteQuality
SIO_000300: 2.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e-2

QD
type: SiteQuality
SIO_000300: 1.058e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.938+833C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.955+833C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6185
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6874
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1234
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8672
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3891
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7908
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9083
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2259
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3876
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

FS
type: SiteQuality
SIO_000300: 1.9144e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.378e1

DP
type: SiteQuality
SIO_000300: 2.969913e6

MQRankSum
type: SiteQuality
SIO_000300: 1.22e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000312523
ensembl transcript: ENST00000309190
gene symbol: CAST
hgvsc: ENST00000309190.5:c.1617+835G>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000423638
ensembl transcript: ENST00000511782
gene symbol: CAST
hgvsc: ENST00000511782.1:c.1641+835G>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6186
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2259
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6874
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1228
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9083
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1314
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8671
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7908
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3890
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34313
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 6600
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3819
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
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: 1
allele frequency: 1.499790029395885e-5
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.539e0

DP
type: SiteQuality
SIO_000300: 2.969741e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 1.15e1

FS
type: SiteQuality
SIO_000300: 1.959e0

VQSLOD
type: SiteQuality
SIO_000300: -3.932e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.938+839C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1683+839C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8672
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2259
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 845
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7906
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 62
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1226
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9083
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6858
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6186
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3891
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6583
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34312
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2129
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2187
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999340072592015e-5
allele num: 66674
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.7e0

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

QD
type: SiteQuality
SIO_000300: 1.353e1

DP
type: SiteQuality
SIO_000300: 2.969306e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1683+840G>A
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+840G>A
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3890
bin: 9.75e1
variant carriers: 4

GenotypeDepth
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1036
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1225
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9087
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8672
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7905
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6187
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 844
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6851
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4554
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2188
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6573
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34309
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 3871
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3748
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3865
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 4
allele frequency: 3.843936190659235e-4
allele num: 10406
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999940001199976e-5
allele num: 66668
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.347e1

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.587e0

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

FS
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.968994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.47e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+852A>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000320319
ensembl transcript: ENST00000325674
gene symbol: CAST
hgvsc: ENST00000325674.7:c.1827+852A>G
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 6817
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4554
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9070
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7906
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1248
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 89
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8669
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3887
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6186
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34307
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3742
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 106
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6559
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3863
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3817
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2186
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
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)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.92e-1

DP
type: SiteQuality
SIO_000300: 2.967882e6

QD
type: SiteQuality
SIO_000300: 1.533e1

FS
type: SiteQuality
SIO_000300: 3.054e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.81e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1625+862A>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1578+862A>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 4554
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6184
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9048
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1245
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3281
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7904
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6813
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8663
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 125
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34306
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2183
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6558
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3735
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500330072615976e-5
allele num: 66652
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: 6594
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

FS
type: SiteQuality
SIO_000300: 3.119e0

MQ
type: SiteQuality
SIO_000300: 5.906e1

DP
type: SiteQuality
SIO_000300: 2.966966e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000432878
ensembl transcript: ENST00000484552
gene symbol: CAST
hgvsc: ENST00000484552.1:c.910+864T>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+864T>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1241
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4554
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6184
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3281
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6811
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9045
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8661
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7903
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 3858
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2181
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34304
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3733
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3812
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
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: 6596
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

QD
type: SiteQuality
SIO_000300: 1.138e1

MQRankSum
type: SiteQuality
SIO_000300: -1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 4.053e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.966742e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.52e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+879A>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-23T>C
variant of: http://identifiers.org/hgnc/18173

GenotypeDepth
all individuals: 3280
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6182
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 211
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 119
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6731
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8982
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8642
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1225
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7898
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6459
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3711
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2125
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 34296
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
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: 6596
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.208e0

DP
type: SiteQuality
SIO_000300: 2.963548e6

MQRankSum
type: SiteQuality
SIO_000300: 3.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.45e-1

QD
type: SiteQuality
SIO_000300: 1.282e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.28e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.168+880T>A
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000352098
ensembl transcript: ENST00000359176
gene symbol: CAST
hgvsc: ENST00000359176.4:c.1875+880T>A
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 8643
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7897
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 88
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6183
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6716
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3279
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1222
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1035
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8979
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 844
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1312
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4553
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 132
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6445
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3847
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3713
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3802
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2158
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34296
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3801
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
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: 11480
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.963276e6

FS
type: SiteQuality
SIO_000300: 1.494e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.255e0

VQSLOD
type: SiteQuality
SIO_000300: 1.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.375e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.63e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000320319
ensembl transcript: ENST00000325674
gene symbol: CAST
hgvsc: ENST00000325674.7:c.1827+894C>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+894C>G
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1268
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6176
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7866
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1033
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 807
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6276
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4548
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3277
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1685
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8575
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3826
bin: 8.25e1
variant carriers: 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: 8646
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11466
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

VQSLOD
type: SiteQuality
SIO_000300: -1.298e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

DP
type: SiteQuality
SIO_000300: 2.950342e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000312523
ensembl transcript: ENST00000309190
gene symbol: CAST
hgvsc: ENST00000309190.5:c.1617+894C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000320319
ensembl transcript: ENST00000325674
gene symbol: CAST
hgvsc: ENST00000325674.7:c.1827+894C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 100
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 8575
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 807
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1268
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8656
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6176
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3277
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1685
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4548
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6276
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7866
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2120
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34275
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5673
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
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: 11466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.02e-1

DP
type: SiteQuality
SIO_000300: 2.950342e6

FS
type: SiteQuality
SIO_000300: 2.73e0

MQRankSum
type: SiteQuality
SIO_000300: 2.59e0

VQSLOD
type: SiteQuality
SIO_000300: -1.298e0

QD
type: SiteQuality
SIO_000300: 1.142e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1683+895C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.955+895C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 7867
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1033
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 926
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1299
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8599
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 8564
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1310
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6190
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3886
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3276
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2257
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 368
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1685
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6175
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4548
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 151
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3640
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5486
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3628
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3824
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34277
bin: 9.75e1
variant carriers: 4

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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: 10398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.005825650881355e-5
allele num: 66602
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.791e0

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.948549e6

FS
type: SiteQuality
SIO_000300: 2.548e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.0e-2

QD
type: SiteQuality
SIO_000300: 1.474e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422176
ensembl transcript: ENST00000510756
gene symbol: CAST
hgvsc: ENST00000510756.1:c.1866+896T>A
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+896T>A
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1013
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8533
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1033
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7866
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3885
bin: 9.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 795
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1687
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6176
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8559
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 366
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3276
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6149
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 102
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 842
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 949
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2257
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4546
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3617
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34278
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3634
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3821
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.847309743092584e-4
allele num: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.98e1

DP
type: SiteQuality
SIO_000300: 2.946998e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.168+900C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+900C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1033
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5840
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7837
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1686
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 372
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4545
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8178
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 843
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1282
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3276
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 794
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3884
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1309
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6169
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8486
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1818
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2115
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4896
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3598
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34266
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3792
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 320
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3811
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66584
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
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: 8646
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.938354e6

VQSLOD
type: SiteQuality
SIO_000300: -9.344e-1

QD
type: SiteQuality
SIO_000300: 1.458e1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.169e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.852+902C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422325
ensembl transcript: ENST00000510156
gene symbol: CAST
hgvsc: ENST00000510156.1:c.1683+902C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1035
bin: 7.75e1
variant carriers: 8

GenotypeDepth
all individuals: 7831
bin: 4.25e1
variant carriers: 12

GenotypeDepth
all individuals: 8452
bin: 3.75e1
variant carriers: 13

GenotypeDepth
all individuals: 4543
bin: 5.25e1
variant carriers: 4

GenotypeDepth
all individuals: 6164
bin: 4.75e1
variant carriers: 9

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

GenotypeDepth
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1685
bin: 6.75e1
variant carriers: 7

GenotypeDepth
all individuals: 1285
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2260
bin: 6.25e1
variant carriers: 7

GenotypeDepth
all individuals: 2142
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 8030
bin: 3.25e1
variant carriers: 10

GenotypeDepth
all individuals: 5708
bin: 2.75e1
variant carriers: 6

GenotypeDepth
all individuals: 793
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3270
bin: 5.75e1
variant carriers: 10

GenotypeDepth
all individuals: 844
bin: 8.75e1
variant carriers: 5

GenotypeDepth
all individuals: 3883
bin: 9.75e1
variant carriers: 6

GenotypeDepth
all individuals: 947
bin: 8.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1312
bin: 7.25e1
variant carriers: 7

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 359
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3569
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2047
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3780
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 259
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3794
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34272
bin: 9.75e1
variant carriers: 112

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

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

African
type: Population
allele count: 99
allele frequency: 9.528392685274303e-3
allele num: 10390
num of homozygotes: 0

Latino
type: Population
allele count: 9
allele frequency: 7.854773957060569e-4
allele num: 11458
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.513373805373565e-5
allele num: 66548
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.506e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 2.934889e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1644+903G>A
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422325
ensembl transcript: ENST00000510156
gene symbol: CAST
hgvsc: ENST00000510156.1:c.1683+903G>A
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 6160
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2386
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2258
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7883
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 121
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4541
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7815
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 839
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8425
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1290
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1311
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5669
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3881
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 948
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1684
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 793
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3268
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 372
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3796
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34222
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 787
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4352
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3776
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3527
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3238
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11448
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.83e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.14e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 3.415e0

DP
type: SiteQuality
SIO_000300: 2.931418e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.243e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1683+907A>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422176
ensembl transcript: ENST00000510756
gene symbol: CAST
hgvsc: ENST00000510756.1:c.1866+907A>G
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 364
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2257
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1684
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4540
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1311
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7476
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8390
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1032
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1288
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 793
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5627
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6147
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 838
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 949
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3268
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3881
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2899
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7792
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3820
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3782
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34225
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2040
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.63020030816641e-5
allele num: 10384
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

DP
type: SiteQuality
SIO_000300: 2.925738e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.682e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.4e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-1946A>G
variant of: http://identifiers.org/hgnc/18173

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.939-47T>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 6963
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 210
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5694
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2400
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7022
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3707
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 786
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2310
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2567
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7495
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1152
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1563
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1271
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5537
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1496
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18347
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5526
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5147
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4528
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12073
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.111111111111111e-3
allele num: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.514e1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 3.716711e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.59e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000312523
ensembl transcript: ENST00000309190
gene symbol: CAST
hgvsc: ENST00000309190.5:c.1618-24A>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1645-24A>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 352
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6964
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1662
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7022
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1282
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2400
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7495
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1155
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5537
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3710
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 2566
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5693
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3464
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1952
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4011
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4533
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5140
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7005
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20114
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5523
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 12212
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 9
allele frequency: 1.040221914008322e-3
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16338
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.057e0

MQRankSum
type: SiteQuality
SIO_000300: 9.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.731497e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

VQSLOD
type: SiteQuality
SIO_000300: -6.71e-1

QD
type: SiteQuality
SIO_000300: 1.169e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.169-18G>A
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.956-21G>A
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2402
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1149
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7025
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1209
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4013
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2566
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7496
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 223
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3704
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5693
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5537
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6966
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1287
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2045
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12247
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20321
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7011
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4543
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5513
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5137
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501636784094663e-5
allele num: 66594
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.02e-1

FS
type: SiteQuality
SIO_000300: 5.570000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.922e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

QD
type: SiteQuality
SIO_000300: 1.334e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 3.734066e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 5.81e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.956-19A>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1579-16A>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3705
bin: 9.75e1
variant carriers: 7

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

GenotypeDepth
all individuals: 5537
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1243
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7496
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5693
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7025
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2091
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2566
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6965
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 9.75e1
variant carriers: 7

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

GenotypeQuality
all individuals: 20383
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12289
bin: 6.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.817e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: -8.466e-1

DP
type: SiteQuality
SIO_000300: 3.735758e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.939-16A>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1626-16A>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5693
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2566
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7496
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1243
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6965
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7025
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2091
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3705
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5537
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4550
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5512
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 12289
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7014
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20383
bin: 6.25e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504775061565259e-5
allele num: 66596
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.735758e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

QD
type: SiteQuality
SIO_000300: 1.361e1

VQSLOD
type: SiteQuality
SIO_000300: -8.466e-1

MQ
type: SiteQuality
SIO_000300: 5.817e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000312523
ensembl transcript: ENST00000309190
gene symbol: CAST
hgvsc: ENST00000309190.5:c.1618-14T>C
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000352098
ensembl transcript: ENST00000359176
gene symbol: CAST
hgvsc: ENST00000359176.4:c.1876-14T>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 4014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3575
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1253
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2567
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 127
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3697
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6965
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 173
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5541
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2095
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7498
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7025
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5694
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1661
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2401
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1289
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20411
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5136
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7014
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12297
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5504
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.218e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.21e0

MQ
type: SiteQuality
SIO_000300: 5.864e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.735355e6

QD
type: SiteQuality
SIO_000300: 1.431e1

MQRankSum
type: SiteQuality
SIO_000300: 9.45e-1

FS
type: SiteQuality
SIO_000300: 3.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1626-3C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000379157
ensembl transcript: ENST00000395812
gene symbol: CAST
hgvsc: ENST00000395812.2:c.1810-3C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1645-3C>T
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.956-6C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 6958
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 51
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4015
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 7022
bin: 5.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1308
bin: 3.75e1
variant carriers: 5

GenotypeDepth
all individuals: 2553
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1313
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5698
bin: 5.25e1
variant carriers: 4

GenotypeDepth
all individuals: 2406
bin: 4.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2173
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1137
bin: 9.25e1
variant carriers: 4

GenotypeDepth
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3626
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5538
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3832
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7498
bin: 6.25e1
variant carriers: 3

GenotypeDepth
all individuals: 3764
bin: 9.75e1
variant carriers: 171

GenotypeDepth
all individuals: 74
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1654
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5135
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12324
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2168
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4560
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20611
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5525
bin: 9.75e1
variant carriers: 203

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7008
bin: 7.75e1
variant carriers: 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: 2
allele frequency: 1.214181641573579e-4
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.197505197505198e-4
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

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

African
type: Population
allele count: 195
allele frequency: 1.874279123414072e-2
allele num: 10404
num of homozygotes: 2

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

DP
type: SiteQuality
SIO_000300: 3.750923e6

MQ
type: SiteQuality
SIO_000300: 5.849e1

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.06e-2

QD
type: SiteQuality
SIO_000300: 1.206e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.976e0

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-1994T>C
variant of: http://identifiers.org/hgnc/18173

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1646A>G
hgvsp: ENSP00000343421.3:p.Gln549Arg
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.170A>G
hgvsp: ENSP00000427195.1:p.Gln57Arg
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425670
ensembl transcript: ENST00000504465
gene symbol: CAST
hgvsc: ENST00000504465.1:c.1469A>G
hgvsp: ENSP00000425670.1:p.Gln490Arg
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.854A>G
hgvsp: ENSP00000422929.1:p.Gln285Arg
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 4030
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5716
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3604
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3602
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2565
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1316
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1137
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1347
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7042
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7515
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1657
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2209
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2419
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5552
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6980
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5336
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7035
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5155
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067224851352991e-5
allele num: 16482
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
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: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-2

MQ
type: SiteQuality
SIO_000300: 5.773e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.937e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.355e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 3.732019e6

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

VQSLOD
type: SiteQuality
SIO_000300: -1.495e0

QD
type: SiteQuality
SIO_000300: 1.143e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.857G>A
hgvsp: ENSP00000422929.1:p.Ser286Asn
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000421130
ensembl transcript: ENST00000511049
gene symbol: CAST
hgvsc: ENST00000511049.1:c.1643G>A
hgvsp: ENSP00000421130.1:p.Ser548Asn
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425721
ensembl transcript: ENST00000508830
gene symbol: CAST
hgvsc: ENST00000508830.1:c.1937G>A
hgvsp: ENSP00000425721.1:p.Ser646Asn
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1649G>A
hgvsp: ENSP00000343421.3:p.Ser550Asn
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6980
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3617
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 66
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7041
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3843
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2211
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5550
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1316
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3614
bin: 9.75e1
variant carriers: 22

GenotypeDepth
all individuals: 2563
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4029
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2419
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5717
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7515
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7034
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 12404
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4587
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5155
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5335
bin: 9.75e1
variant carriers: 23

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

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

East Asian
type: Population
allele count: 22
allele frequency: 2.542764678687009e-3
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.97e-1

FS
type: SiteQuality
SIO_000300: 1.769e0

DP
type: SiteQuality
SIO_000300: 3.733773e6

VQSLOD
type: SiteQuality
SIO_000300: 3.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.338e0

QD
type: SiteQuality
SIO_000300: 1.146e1

MQ
type: SiteQuality
SIO_000300: 5.844e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1584T>A
hgvsp: ENSP00000426946.1:p.Ser528Arg
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000423638
ensembl transcript: ENST00000511782
gene symbol: CAST
hgvsc: ENST00000511782.1:c.1647T>A
hgvsp: ENSP00000423638.1:p.Ser549Arg
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000432878
ensembl transcript: ENST00000484552
gene symbol: CAST
hgvsc: ENST00000484552.1:c.913T>A
hgvsp: ENSP00000432878.1:p.Ser305Arg
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-1998A>T
variant of: http://identifiers.org/hgnc/18173

GenotypeDepth
all individuals: 1317
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2563
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3592
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4031
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1352
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 65
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3617
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2421
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6985
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2213
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20766
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5314
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5001500150015e-5
allele num: 66660
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.238e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.879e1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.087e1

VQSLOD
type: SiteQuality
SIO_000300: -2.886e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.8e-2

DP
type: SiteQuality
SIO_000300: 3.731414e6

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000423638
ensembl transcript: ENST00000511782
gene symbol: CAST
hgvsc: ENST00000511782.1:c.1656C>T
hgvsp: ENST00000511782.1:c.1656C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.183C>T
hgvsp: ENST00000510098.1:c.183C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-2007G>A
variant of: http://identifiers.org/hgnc/18173

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1640C>T
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1324
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2563
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2426
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1360
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3620
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2227
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6985
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4031
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3591
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20799
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5314
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7041
bin: 7.75e1
variant carriers: 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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
SIO_000300: 1.363e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.787e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.73206e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.09e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.688e0

MQ
type: SiteQuality
SIO_000300: 5.826e1

FS
type: SiteQuality
SIO_000300: 1.524e0

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.956C>T
hgvsp: ENST00000437034.2:c.956C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425787
ensembl transcript: ENST00000508579
gene symbol: CAST
hgvsc: ENST00000508579.1:c.846C>T
hgvsp: ENST00000508579.1:c.846C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000312523
ensembl transcript: ENST00000309190
gene symbol: CAST
hgvsc: ENST00000309190.5:c.1635C>T
hgvsp: ENST00000309190.5:c.1635C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000379158
ensembl transcript: ENST00000395813
gene symbol: CAST
hgvsc: ENST00000395813.1:c.1950C>T
hgvsp: ENST00000395813.1:c.1950C>T(p.%3D)
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 6985
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3617
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2234
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3592
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 20816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.554e0

MQ
type: SiteQuality
SIO_000300: 5.83e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

DP
type: SiteQuality
SIO_000300: 3.73229e6

QD
type: SiteQuality
SIO_000300: 8.5e0

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

Annotation
canonical: false
consequence: inframe_deletion
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000421130
ensembl transcript: ENST00000511049
gene symbol: CAST
hgvsp: ENSP00000421130.1:p.Asp554_Asp557del
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: inframe_deletion
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsp: ENSP00000426946.1:p.Asp534_Asp537del
variant of: http://identifiers.org/hgnc/1515

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

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6985
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3617
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2234
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3592
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1362
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20816
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5313
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
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: 908
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.554e0

DP
type: SiteQuality
SIO_000300: 3.73229e6

MQ
type: SiteQuality
SIO_000300: 5.83e1

QD
type: SiteQuality
SIO_000300: 8.5e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425721
ensembl transcript: ENST00000508830
gene symbol: CAST
hgvsc: ENST00000508830.1:c.1951G>A
hgvsp: ENSP00000425721.1:p.Asp651Asn
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1644G>A
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.957G>A
hgvsp: ENSP00000412374.2:p.Asp320Asn
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.187G>A
hgvsp: ENSP00000427195.1:p.Asp63Asn
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 7045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1363
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4031
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3619
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1327
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 6986
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2232
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3591
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12411
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7042
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5311
bin: 9.75e1
variant carriers: 3

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.498695378340282e-5
allele num: 66686
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: 908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.596e0

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.054e0

MQ
type: SiteQuality
SIO_000300: 5.806e1

DP
type: SiteQuality
SIO_000300: 3.732443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.53e-2

QD
type: SiteQuality
SIO_000300: 1.318e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000312523
ensembl transcript: ENST00000309190
gene symbol: CAST
hgvsc: ENST00000309190.5:c.1639G>A
hgvsp: ENSP00000312523.5:p.Asp547Asn
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-2014C>T
variant of: http://identifiers.org/hgnc/18173

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425721
ensembl transcript: ENST00000508830
gene symbol: CAST
hgvsc: ENST00000508830.1:c.1954G>A
hgvsp: ENSP00000425721.1:p.Asp652Asn
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000423638
ensembl transcript: ENST00000511782
gene symbol: CAST
hgvsc: ENST00000511782.1:c.1663G>A
hgvsp: ENSP00000423638.1:p.Asp555Asn
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2230
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7045
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4031
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3617
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3589
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1364
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12415
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5309
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4594
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7041
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20813
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2174
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.09e0

FS
type: SiteQuality
SIO_000300: 1.868e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

MQRankSum
type: SiteQuality
SIO_000300: 4.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
SIO_000300: 3.731898e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.083e0

VQSLOD
type: SiteQuality
SIO_000300: -1.395e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.06e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422929
ensembl transcript: ENST00000515663
gene symbol: CAST
hgvsc: ENST00000515663.1:c.883G>C
hgvsp: ENSP00000422929.1:p.Asp295His
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422176
ensembl transcript: ENST00000510756
gene symbol: CAST
hgvsc: ENST00000510756.1:c.1897G>C
hgvsp: ENSP00000422176.1:p.Asp633His
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1675G>C
hgvsp: ENSP00000343421.3:p.Asp559His
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1656G>C
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 7046
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4031
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3624
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1357
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7519
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2229
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1328
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1134
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3589
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5155
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20826
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.772e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.18e0

DP
type: SiteQuality
SIO_000300: 3.731988e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 2.761e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.581e0

QD
type: SiteQuality
SIO_000300: 1.341e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.256e0

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1724_1725delCT
hgvsp: ENSP00000339914.3:p.Ser575Ter
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422325
ensembl transcript: ENST00000510156
gene symbol: CAST
hgvsc: ENST00000510156.1:c.1724_1725delCT
hgvsp: ENSP00000422325.1:p.Ser575Ter
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.993_994delCT
hgvsp: ENSP00000424160.1:p.Ser332Ter
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1666_1667delCT
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7048
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 24
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2220
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3618
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1353
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3589
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5552
bin: 7.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 80
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20818
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12406
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5155
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5308
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.65e0

FS
type: SiteQuality
SIO_000300: 1.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

QD
type: SiteQuality
SIO_000300: 2.964e1

MQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 5.853e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.88e-1

DP
type: SiteQuality
SIO_000300: 3.7317e6

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.975C>T
hgvsp: ENSP00000412374.2:p.Leu326Phe
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000320319
ensembl transcript: ENST00000325674
gene symbol: CAST
hgvsc: ENST00000325674.7:c.1864C>T
hgvsp: ENSP00000320319.7:p.Leu622Phe
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1681C>T
hgvsp: ENSP00000343421.3:p.Leu561Phe
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.205C>T
hgvsp: ENSP00000427195.1:p.Leu69Phe
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 1325
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3620
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7048
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2222
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3588
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5306
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5155
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4590
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3079
bin: 9.25e1
variant carriers: 0

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

East Asian
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: 908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.661008141347653e-5
allele num: 11546
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.684e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.756e0

MQ
type: SiteQuality
SIO_000300: 5.893e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.705e-1

DP
type: SiteQuality
SIO_000300: 3.731658e6

FS
type: SiteQuality
SIO_000300: 4.127e0

QD
type: SiteQuality
SIO_000300: 1.278e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000339914
ensembl transcript: ENST00000341926
gene symbol: CAST
hgvsc: ENST00000341926.3:c.1722C>G
hgvsp: ENST00000341926.3:c.1722C>G(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1617C>G
hgvsp: ENST00000509903.1:c.1617C>G(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000153113
ensembl transcript: ENST00000348386
gene symbol: CAST
hgvsc: ENST00000348386.3:n.1664C>G
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000379157
ensembl transcript: ENST00000395812
gene symbol: CAST
hgvsc: ENST00000395812.2:c.1848C>G
hgvsp: ENST00000395812.2:c.1848C>G(p.%3D)
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 38
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3587
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7519
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3601
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1351
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7048
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2222
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 12408
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7038
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5155
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20798
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.427e1

DP
type: SiteQuality
SIO_000300: 3.731477e6

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.886e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.856e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.328e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.24e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.979C>G
hgvsp: ENSP00000412374.2:p.Ser327Cys
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000379157
ensembl transcript: ENST00000395812
gene symbol: CAST
hgvsc: ENST00000395812.2:c.1850C>G
hgvsp: ENSP00000379157.2:p.Ser617Cys
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1685C>G
hgvsp: ENSP00000343421.3:p.Ser562Cys
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-2033G>C
variant of: http://identifiers.org/hgnc/18173

GenotypeDepth
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1350
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2561
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7520
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3607
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7048
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2221
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3587
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5722
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20811
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5306
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12406
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7039
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.731349e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

FS
type: SiteQuality
SIO_000300: 2.811e0

QD
type: SiteQuality
SIO_000300: 1.25e1

VQSLOD
type: SiteQuality
SIO_000300: 2.8e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000424160
ensembl transcript: ENST00000510500
gene symbol: CAST
hgvsc: ENST00000510500.1:c.998A>T
hgvsp: ENSP00000424160.1:p.Ser334Cys
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422677
ensembl transcript: ENST00000508608
gene symbol: CAST
hgvsc: ENST00000508608.1:c.1867A>T
hgvsp: ENSP00000422677.1:p.Ser623Cys
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000423638
ensembl transcript: ENST00000511782
gene symbol: CAST
hgvsc: ENST00000511782.1:c.1687A>T
hgvsp: ENSP00000423638.1:p.Ser563Cys
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1690A>T
hgvsp: ENSP00000343421.3:p.Ser564Cys
variant of: http://identifiers.org/hgnc/1515

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

GenotypeDepth
all individuals: 2196
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2561
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4033
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3586
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7048
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3599
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1326
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7520
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1343
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5304
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3079
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20788
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7037
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12399
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.799e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 2.255e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

DP
type: SiteQuality
SIO_000300: 3.730757e6

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e-1

QD
type: SiteQuality
SIO_000300: 1.044e1

Annotation
canonical: false
consequence: frameshift_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000427195
ensembl transcript: ENST00000510098
gene symbol: CAST
hgvsc: ENST00000510098.1:c.222delA
hgvsp: ENSP00000427195.1:p.Gln75LysfsTer16
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000352098
ensembl transcript: ENST00000359176
gene symbol: CAST
hgvsc: ENST00000359176.4:c.1929delA
hgvsp: ENSP00000352098.4:p.Gln644LysfsTer16
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: frameshift_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1698delA
hgvsp: ENSP00000343421.3:p.Gln567LysfsTer16
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-2046delT
variant of: http://identifiers.org/hgnc/18173

GenotypeDepth
all individuals: 3585
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2425
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1325
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7520
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3559
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1340
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7048
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2184
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2561
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6987
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7033
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2169
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 167
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 20745
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12395
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5303
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4582
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 3.492e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

QD
type: SiteQuality
SIO_000300: 1.233e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

DP
type: SiteQuality
SIO_000300: 3.729878e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1714C>T
hgvsp: ENSP00000343421.3:p.Pro572Ser
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422176
ensembl transcript: ENST00000510756
gene symbol: CAST
hgvsc: ENST00000510756.1:c.1936C>T
hgvsp: ENSP00000422176.1:p.Pro646Ser
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422325
ensembl transcript: ENST00000510156
gene symbol: CAST
hgvsc: ENST00000510156.1:c.1753C>T
hgvsp: ENSP00000422325.1:p.Pro585Ser
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000164307
ensembl protein: ENSP00000296754
ensembl transcript: ENST00000296754
gene symbol: ERAP1
hgvsc: ENST00000296754.3:c.2819-2062G>A
variant of: http://identifiers.org/hgnc/18173

GenotypeDepth
all individuals: 4032
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 57
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7520
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2112
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2424
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3353
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6988
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3584
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1319
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1656
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5551
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7048
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5721
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2562
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7019
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4573
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5303
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5148
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12350
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2167
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

QD
type: SiteQuality
SIO_000300: 7.03e0

MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

DP
type: SiteQuality
SIO_000300: 3.726636e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.718e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.682e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000422677
ensembl transcript: ENST00000508608
gene symbol: CAST
hgvsc: ENST00000508608.1:c.1908A>G
hgvsp: ENST00000508608.1:c.1908A>G(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000312523
ensembl transcript: ENST00000309190
gene symbol: CAST
hgvsc: ENST00000309190.5:c.1704A>G
hgvsp: ENST00000309190.5:c.1704A>G(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.1025A>G
hgvsp: ENST00000437034.2:c.1025A>G(p.%3D)
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425787
ensembl transcript: ENST00000508579
gene symbol: CAST
hgvsc: ENST00000508579.1:c.915A>G
hgvsp: ENST00000508579.1:c.915A>G(p.%3D)
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 5550
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 755
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3838
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2996
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4028
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7518
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6992
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1305
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1723
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1191
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 144
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2413
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5720
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7045
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1136
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3587
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2556
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19606
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 206
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 7009
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12177
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4561
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5208
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 3.716105e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.897e1

QD
type: SiteQuality
SIO_000300: 1.314e1

FS
type: SiteQuality
SIO_000300: 1.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-2

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000426946
ensembl transcript: ENST00000509903
gene symbol: CAST
hgvsc: ENST00000509903.1:c.1673A>G
hgvsp: ENSP00000426946.1:p.Asp558Gly
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000412374
ensembl transcript: ENST00000437034
gene symbol: CAST
hgvsc: ENST00000437034.2:c.1033A>G
hgvsp: ENSP00000412374.2:p.Asp345Gly
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000343421
ensembl transcript: ENST00000338252
gene symbol: CAST
hgvsc: ENST00000338252.3:c.1739A>G
hgvsp: ENSP00000343421.3:p.Asp580Gly
variant of: http://identifiers.org/hgnc/1515

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000153113
ensembl protein: ENSP00000425787
ensembl transcript: ENST00000508579
gene symbol: CAST
hgvsc: ENST00000508579.1:c.923A>G
hgvsp: ENSP00000425787.1:p.Asp308Gly
variant of: http://identifiers.org/hgnc/1515

GenotypeDepth
all individuals: 2118
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6993
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6981
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1152
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 467
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5554
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1178
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1382
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7495
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5563
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 836
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2872
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1671
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3761
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2364
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3853
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2572
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3500
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 685
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 678
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5058
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5236
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2148
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6790
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2556
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4382
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17650
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66176
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16440
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
SIO_000300: 1.5702e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.02e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.825e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-1

DP
type: SiteQuality
SIO_000300: 3.685182e6

QD
type: SiteQuality
SIO_000300: 1.301e1