14-88417055-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417055
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417055
    reference: chr 14
allele count: 1
allele frequency: 8.483059330516958e-6
allele num: 117882
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1130C>G
  hgvsp: ENSP00000377198.4:p.Pro377Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.1031C>G
  hgvsp: ENSP00000437513.2:p.Pro344Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*597C>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1199C>G
  hgvsp: ENSP00000261304.2:p.Pro400Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.566C>G
  hgvsp: ENSP00000450472.1:p.Pro189Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1121C>G
  hgvsp: ENSP00000377199.2:p.Pro374Arg
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro400Arg
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-88417063-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417063
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417063
    reference: chr 14
allele count: 1
allele frequency: 8.477881207928515e-6
allele num: 117954
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1122A>G
  hgvsp: ENST00000393568.4:c.1122A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.558A>G
  hgvsp: ENST00000555000.1:c.558A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1191A>G
  hgvsp: ENST00000261304.2:c.1191A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.1023A>G
  hgvsp: ENST00000544807.2:c.1023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*589A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1113A>G
  hgvsp: ENST00000393569.2:c.1113A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro397Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: QD

14-88417064-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417064
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417064
    reference: chr 14
allele count: 1
allele frequency: 8.479175145841813e-6
allele num: 117936
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.1022C>T
  hgvsp: ENSP00000437513.2:p.Pro341Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1121C>T
  hgvsp: ENSP00000377198.4:p.Pro374Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*588C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1112C>T
  hgvsp: ENSP00000377199.2:p.Pro371Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.557C>T
  hgvsp: ENSP00000450472.1:p.Pro186Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1190C>T
  hgvsp: ENSP00000261304.2:p.Pro397Leu
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1316
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6182
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37279
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46593
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro397Leu
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

14-88417068-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417068
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417068
    reference: chr 14
allele count: 1
allele frequency: 8.481908090043937e-6
allele num: 117898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1117C>T
  hgvsp: ENSP00000377198.4:p.Arg373Trp
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.1018C>T
  hgvsp: ENSP00000437513.2:p.Arg340Trp
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1108C>T
  hgvsp: ENSP00000377199.2:p.Arg370Trp
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*584C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1186C>T
  hgvsp: ENSP00000261304.2:p.Arg396Trp
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.553C>T
  hgvsp: ENSP00000450472.1:p.Arg185Trp
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 774
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6012
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg396Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

14-88417070-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417070
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417070
    reference: chr 14
allele count: 3
allele frequency: 2.543838822372214e-5
allele num: 117932
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.1016T>C
  hgvsp: ENSP00000437513.2:p.Ile339Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*582T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1106T>C
  hgvsp: ENSP00000377199.2:p.Ile369Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.551T>C
  hgvsp: ENSP00000450472.1:p.Ile184Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1115T>C
  hgvsp: ENSP00000377198.4:p.Ile372Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1184T>C
  hgvsp: ENSP00000261304.2:p.Ile395Thr
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35831
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4867
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10697
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile395Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

14-88417071-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417071
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417071
    reference: chr 14
allele count: 1
allele frequency: 8.481044864727334e-6
allele num: 117910
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.1015A>C
  hgvsp: ENSP00000437513.2:p.Ile339Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1183A>C
  hgvsp: ENSP00000261304.2:p.Ile395Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1105A>C
  hgvsp: ENSP00000377199.2:p.Ile369Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.550A>C
  hgvsp: ENSP00000450472.1:p.Ile184Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1114A>C
  hgvsp: ENSP00000377198.4:p.Ile372Leu
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*581A>C
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3874
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3003
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1321
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11086
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ile395Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

14-88417079-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417079
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417079
    reference: chr 14
allele count: 1
allele frequency: 8.668065114505139e-6
allele num: 115366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1106C>T
  hgvsp: ENSP00000377198.4:p.Ser369Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1175C>T
  hgvsp: ENSP00000261304.2:p.Ser392Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1097C>T
  hgvsp: ENSP00000377199.2:p.Ser366Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*573C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.1007C>T
  hgvsp: ENSP00000437513.2:p.Ser336Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.542C>T
  hgvsp: ENSP00000450472.1:p.Ser181Phe
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8275
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1494
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3947
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 851
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser392Phe
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

14-88417095-G-GA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417095
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417096
    reference: chr 14
allele count: 7
allele frequency: 6.572893387669252e-5
allele num: 106498
alternate allele: GA
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-4dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-4dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-4dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-4dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-4dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-4dupT
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 5.75e1
  variant carriers: 0
hgvs: c.1162-4dupT
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

14-88417095-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417095
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417094
    reference: chr 14
allele count: 104106
allele frequency: 9.775394843095645e-1
allele num: 106498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-4delT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-4delT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-4delT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-4delT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-4delT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-4delT
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 689
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 697
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 677
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 1356
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 666
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 693
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 1903
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 681
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 722
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 909
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 8687
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.25e1
  variant carriers: 4970
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 1.25e1
  variant carriers: 6586
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.25e1
  variant carriers: 11452
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 1.75e1
  variant carriers: 11099
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 704
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 228
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 9.75e1
  variant carriers: 4114
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.75e1
  variant carriers: 652
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 2639
genotype quality: GenotypeQuality
  all individuals: 2583
  bin: 7.75e1
  variant carriers: 2582
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 1043
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 6.25e1
  variant carriers: 3832
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 2169
genotype quality: GenotypeQuality
  all individuals: 3372
  bin: 5.75e1
  variant carriers: 3372
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 1562
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 1398
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 9.25e1
  variant carriers: 1566
genotype quality: GenotypeQuality
  all individuals: 1657
  bin: 1.75e1
  variant carriers: 1657
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 2299
genotype quality: GenotypeQuality
  all individuals: 3116
  bin: 3.75e1
  variant carriers: 3112
hgvs: c.1162-4delT
num of homozygotes: 50900
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: GA
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-88417095-GAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417095
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417093
    reference: chr 14
allele count: 508
allele frequency: 4.770042629908543e-3
allele num: 106498
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-5_1093-4delTT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-5_1162-4delTT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-5_529-4delTT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-5_994-4delTT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-5_*560-4delTT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-5_1084-4delTT
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11113
  bin: 1.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4977
  bin: 3.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 11459
  bin: 2.25e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 8708
  bin: 2.75e1
  variant carriers: 136
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2647
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4118
  bin: 9.75e1
  variant carriers: 246
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 6.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 3178
  bin: 4.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 2172
  bin: 2.75e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 7.5e0
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 2306
  bin: 2.25e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1084
  bin: 2.5e0
  variant carriers: 77
genotype quality: GenotypeQuality
  all individuals: 13535
  bin: 9.75e1
  variant carriers: 140
genotype quality: GenotypeQuality
  all individuals: 1568
  bin: 1.25e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 8.75e1
  variant carriers: 11
hgvs: c.1162-5_1162-4delTT
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: GAA
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

14-88417096-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417096
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417096
    reference: chr 14
allele count: 3
allele frequency: 2.941176470588235e-2
allele num: 102
alternate allele: T
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-4T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-4T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-4T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-4T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-4T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-4T>A
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: c.1162-4T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

14-88417112-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417112
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417112
    reference: chr 14
allele count: 1
allele frequency: 9.53725250829741e-6
allele num: 104852
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-20A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11018
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1008
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2412
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16185
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4328
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17201
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: MQ

14-88417114-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417114
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417114
    reference: chr 14
allele count: 2
allele frequency: 1.920307249159866e-5
allele num: 104150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-22G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-22G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-22G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-22G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-22G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-22G>A
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9999
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18591
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6383
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17645
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14823
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4680
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 4149
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

14-88417118-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417118
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417118
    reference: chr 14
allele count: 1
allele frequency: 9.695935463853552e-6
allele num: 103136
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-26T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-26T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-26T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-26T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-26T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-26T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5513
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6260
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1160
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5641
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8186
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11503
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS

14-88417125-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417125
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417125
    reference: chr 14
allele count: 99
allele frequency: 9.750044318383265e-4
allele num: 101538
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-33A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-33A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-33A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-33A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-33A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-33A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 2.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7732
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 21023
  bin: 1.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1462
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6633
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

14-88417128-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417128
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417128
    reference: chr 14
allele count: 1
allele frequency: 9.952625502607588e-6
allele num: 100476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-36A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-36A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-36A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-36A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-36A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-36A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21034
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1868
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4181
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS

14-88417130-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417130
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417130
    reference: chr 14
allele count: 5
allele frequency: 5.023106288929074e-5
allele num: 99540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-38A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-38A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-38A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-38A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-38A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-38A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3041
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20855
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8177
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 2350
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4522
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

14-88417131-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417131
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417131
    reference: chr 14
allele count: 4
allele frequency: 4.022202558120827e-5
allele num: 99448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-39T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-39T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-39T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-39T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-39T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-39T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10840
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 948
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4661
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17699
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7324
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-88417132-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417132
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417132
    reference: chr 14
allele count: 1
allele frequency: 1.031395684640456e-5
allele num: 96956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-40A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-40A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-40A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-40A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-40A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-40A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19922
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2023
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7497
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1698
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16037
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2703
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-88417137-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417137
    reference: chr 14
allele count: 1
allele frequency: 1.057015411284697e-5
allele num: 94606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-45A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-45A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-45A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-45A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-45A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-45A>T
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

14-88417137-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417137
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417137
    reference: chr 14
allele count: 2
allele frequency: 2.114030822569393e-5
allele num: 94606
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-45A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-45A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-45A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-45A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-45A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-45A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 985
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19094
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3829
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8179
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2836
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1959
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2094
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14858
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5317
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum

14-88417142-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417142
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417142
    reference: chr 14
allele count: 88
allele frequency: 9.701673538685423e-4
allele num: 90706
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-50A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11319
  bin: 1.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18187
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4451
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11738
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 7482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5324
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4742
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8221
  bin: 9.75e1
  variant carriers: 90
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-88417143-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88417143
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88417143
    reference: chr 14
allele count: 1
allele frequency: 1.118017977729082e-5
allele num: 89444
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.994-51T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1093-51T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1162-51T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1084-51T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.529-51T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*560-51T>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1867
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 525
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7494
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5280
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

14-88429617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429617
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429617
    reference: chr 14
allele count: 1
allele frequency: 1.061007957559682e-5
allele num: 94250
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+111A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+111A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1262A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+111A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+111A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+111A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+111A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+111A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3804
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14381
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8533
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3879
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5639
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6740
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7200
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3059
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

14-88429629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429629
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429629
    reference: chr 14
allele count: 1
allele frequency: 1.054207341499926e-5
allele num: 94858
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+99G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+99G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+99G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+99G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+99G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1250G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+99G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+99G>A
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17266
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2614
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1600
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2330
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

14-88429634-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429634
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429634
    reference: chr 14
allele count: 1
allele frequency: 1.043993903075606e-5
allele num: 95786
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+94C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+94C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1245C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+94C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+94C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+94C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+94C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+94C>T
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10610
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5270
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1688
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20972
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ

14-88429636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429636
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429636
    reference: chr 14
allele count: 1
allele frequency: 1.039155374511597e-5
allele num: 96232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1243T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+92T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+92T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+92T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+92T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+92T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+92T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+92T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11584
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10561
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5269
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

14-88429640-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429640
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429640
    reference: chr 14
allele count: 341
allele frequency: 3.499589490968801e-3
allele num: 97440
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+88T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+88T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+88T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1239T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+88T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+88T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+88T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+88T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9418
  bin: 1.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 3.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 25904
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6079
  bin: 2.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 947
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4335
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 3127
  bin: 6.75e1
  variant carriers: 1
num of homozygotes: 3
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-88429643-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429643
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429643
    reference: chr 14
allele count: 2
allele frequency: 2.019875575664539e-5
allele num: 99016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+85A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+85A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+85A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+85A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+85A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+85A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1236A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+85A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7573
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6660
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3490
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

14-88429653-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429653
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429653
    reference: chr 14
allele count: 1
allele frequency: 9.458769224948449e-6
allele num: 105722
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+75T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+75T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1226T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+75T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+75T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+75T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+75T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+75T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35448
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7034
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1112
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1308
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-88429658-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429658
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429658
    reference: chr 14
allele count: 2
allele frequency: 1.830094066835035e-5
allele num: 109284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1221A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+70A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+70A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+70A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+70A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+70A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+70A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+70A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3174
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37466
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1877
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 748
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

14-88429661-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429661
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429661
    reference: chr 14
allele count: 1
allele frequency: 8.985210343774148e-6
allele num: 111294
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+67T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+67T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1218T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+67T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+67T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+67T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+67T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+67T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38614
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2063
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

14-88429662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429662
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429662
    reference: chr 14
allele count: 107
allele frequency: 9.555960418676097e-4
allele num: 111972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+66C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+66C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+66C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+66C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+66C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+66C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1217C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+66C>T
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9212
  bin: 2.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 38903
  bin: 2.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3366
  bin: 3.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2166
  bin: 9.75e1
  variant carriers: 105
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1147
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

14-88429663-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429663
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429663
    reference: chr 14
allele count: 1
allele frequency: 8.892999430848037e-6
allele num: 112448
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+65A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1216A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+65A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+65A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+65A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+65A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+65A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+65A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3373
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4449
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-88429664-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429664
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429664
    reference: chr 14
allele count: 1
allele frequency: 8.848617845892472e-6
allele num: 113012
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+64A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+64A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1215A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+64A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+64A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+64A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+64A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+64A>C
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3389
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39424
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3723
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
reference allele: T
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

14-88429667-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429667
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429667
    reference: chr 14
allele count: 1
allele frequency: 8.718395815170008e-6
allele num: 114700
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+61T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+61T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1212T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+61T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+61T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+61T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+61T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+61T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2887
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-88429678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429678
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429678
    reference: chr 14
allele count: 16
allele frequency: 1.3489132817374e-4
allele num: 118614
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1201A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+50A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+50A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1025
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3566
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2118
  bin: 9.75e1
  variant carriers: 15
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

14-88429690-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429690
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429690
    reference: chr 14
allele count: 15008
allele frequency: 1.249729369639437e-1
allele num: 120090
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+38T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+38T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+38T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1189T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+38T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+38T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+38T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+38T>C
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.75e1
  variant carriers: 1257
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 5.25e1
  variant carriers: 866
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.75e1
  variant carriers: 1063
genotype depth: GenotypeDepth
  all individuals: 8204
  bin: 2.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 1224
genotype depth: GenotypeDepth
  all individuals: 944
  bin: 4.25e1
  variant carriers: 520
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 3.25e1
  variant carriers: 220
genotype depth: GenotypeDepth
  all individuals: 33053
  bin: 2.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 8.25e1
  variant carriers: 929
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 8.75e1
  variant carriers: 839
genotype depth: GenotypeDepth
  all individuals: 1163
  bin: 3.75e1
  variant carriers: 392
genotype depth: GenotypeDepth
  all individuals: 2915
  bin: 9.75e1
  variant carriers: 2750
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 7.25e1
  variant carriers: 1214
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 9.25e1
  variant carriers: 691
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 1001
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.75e1
  variant carriers: 656
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 38551
  bin: 6.25e1
  variant carriers: 3
num of homozygotes: 1072
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

14-88429691-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429691
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429691
    reference: chr 14
allele count: 1
allele frequency: 8.321405984755183e-6
allele num: 120172
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+37C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+37C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+37C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+37C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1188C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+37C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+37C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+37C>A
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

14-88429702-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429702
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429702
    reference: chr 14
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+26T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1177T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+26T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+26T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+26T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+26T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+26T>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+26T>A
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13293
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33990
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1077
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-88429708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429708
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429708
    reference: chr 14
allele count: 4
allele frequency: 3.320273590543861e-5
allele num: 120472
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1161+20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.528+20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1171A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1083+20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1092+20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*559+20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.247+20A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.993+20A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34039
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6998
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48059
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-88429721-AGTTTACCATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429721
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429711
    reference: chr 14
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: coding_sequence_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: splice donor
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34094
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13346
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: c.1158_1161+6delCATGGTAAAC
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: AGTTTACCATG
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

14-88429730-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429730
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429730
    reference: chr 14
allele count: 2
allele frequency: 1.658264791721942e-5
allele num: 120608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.245A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1090A>G
  hgvsp: ENSP00000377198.4:p.Met364Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.991A>G
  hgvsp: ENSP00000437513.2:p.Met331Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.526A>G
  hgvsp: ENSP00000450472.1:p.Met176Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1149A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1081A>G
  hgvsp: ENSP00000377199.2:p.Met361Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1159A>G
  hgvsp: ENSP00000261304.2:p.Met387Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*557A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34085
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Met387Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

14-88429742-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429742
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429742
    reference: chr 14
allele count: 40
allele frequency: 3.315594900615043e-4
allele num: 120642
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.514A>G
  hgvsp: ENSP00000450472.1:p.Ile172Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1147A>G
  hgvsp: ENSP00000261304.2:p.Ile383Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1078A>G
  hgvsp: ENSP00000377198.4:p.Ile360Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.979A>G
  hgvsp: ENSP00000437513.2:p.Ile327Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1069A>G
  hgvsp: ENSP00000377199.2:p.Ile357Val
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.233A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1137A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*545A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13383
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 34050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48147
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile383Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

14-88429743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429743
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429743
    reference: chr 14
allele count: 1
allele frequency: 8.289124668435012e-6
allele num: 120640
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*544C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1136C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.978C>T
  hgvsp: ENST00000544807.2:c.978C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1068C>T
  hgvsp: ENST00000393569.2:c.1068C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1146C>T
  hgvsp: ENST00000261304.2:c.1146C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.513C>T
  hgvsp: ENST00000555000.1:c.513C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1077C>T
  hgvsp: ENST00000393568.4:c.1077C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.232C>T
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48173
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile382Ile
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

14-88429747-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429747
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429747
    reference: chr 14
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1064C>T
  hgvsp: ENSP00000377199.2:p.Thr355Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1132C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.228C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1142C>T
  hgvsp: ENSP00000261304.2:p.Thr381Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.509C>T
  hgvsp: ENSP00000450472.1:p.Thr170Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.974C>T
  hgvsp: ENSP00000437513.2:p.Thr325Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*540C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1073C>T
  hgvsp: ENSP00000377198.4:p.Thr358Ile
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34041
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2098
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr381Ile
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

14-88429761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429761
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429761
    reference: chr 14
allele count: 2
allele frequency: 1.657962364254331e-5
allele num: 120630
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.495C>T
  hgvsp: ENST00000555000.1:c.495C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*526C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.960C>T
  hgvsp: ENST00000544807.2:c.960C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1128C>T
  hgvsp: ENST00000261304.2:c.1128C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1059C>T
  hgvsp: ENST00000393568.4:c.1059C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1118C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.214C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1050C>T
  hgvsp: ENST00000393569.2:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly376Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

14-88429768-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429768
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429768
    reference: chr 14
allele count: 2
allele frequency: 1.658072325114821e-5
allele num: 120622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1043C>A
  hgvsp: ENSP00000377199.2:p.Thr348Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.207C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.953C>A
  hgvsp: ENSP00000437513.2:p.Thr318Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*519C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1111C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1052C>A
  hgvsp: ENSP00000377198.4:p.Thr351Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1121C>A
  hgvsp: ENSP00000261304.2:p.Thr374Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.488C>A
  hgvsp: ENSP00000450472.1:p.Thr163Asn
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr374Asn
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

14-88429773-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429773
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429773
    reference: chr 14
allele count: 1
allele frequency: 8.291048983517394e-6
allele num: 120612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*514T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.483T>C
  hgvsp: ENST00000555000.1:c.483T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.948T>C
  hgvsp: ENST00000544807.2:c.948T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1038T>C
  hgvsp: ENST00000393569.2:c.1038T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.202T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1116T>C
  hgvsp: ENST00000261304.2:c.1116T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1106T>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1047T>C
  hgvsp: ENST00000393568.4:c.1047T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33982
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1327
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala372Ala
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-88429775-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429775
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429775
    reference: chr 14
allele count: 5
allele frequency: 4.145593234391841e-5
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1045G>T
  hgvsp: ENSP00000377198.4:p.Ala349Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.200G>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*512G>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1036G>T
  hgvsp: ENSP00000377199.2:p.Ala346Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.946G>T
  hgvsp: ENSP00000437513.2:p.Ala316Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1104G>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.481G>T
  hgvsp: ENSP00000450472.1:p.Ala161Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1114G>T
  hgvsp: ENSP00000261304.2:p.Ala372Ser
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5288
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1324
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala372Ser
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

14-88429775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429775
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429775
    reference: chr 14
allele count: 2
allele frequency: 1.658237293756736e-5
allele num: 120610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.200G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1045G>A
  hgvsp: ENSP00000377198.4:p.Ala349Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*512G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1114G>A
  hgvsp: ENSP00000261304.2:p.Ala372Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1036G>A
  hgvsp: ENSP00000377199.2:p.Ala346Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1104G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.481G>A
  hgvsp: ENSP00000450472.1:p.Ala161Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.946G>A
  hgvsp: ENSP00000437513.2:p.Ala316Thr
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33978
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala372Thr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

14-88429779-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429779
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429779
    reference: chr 14
allele count: 10
allele frequency: 8.291873963515754e-5
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1110C>T
  hgvsp: ENST00000261304.2:c.1110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.477C>T
  hgvsp: ENST00000555000.1:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1041C>T
  hgvsp: ENST00000393568.4:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.942C>T
  hgvsp: ENST00000544807.2:c.942C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*508C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1100C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1032C>T
  hgvsp: ENST00000393569.2:c.1032C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.196C>T
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Tyr370Tyr
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-88429779-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429779
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429779
    reference: chr 14
allele count: 6
allele frequency: 4.975124378109453e-5
allele num: 120600
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1041C>G
  hgvsp: ENSP00000377198.4:p.Tyr347Ter
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.477C>G
  hgvsp: ENSP00000450472.1:p.Tyr159Ter
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1110C>G
  hgvsp: ENSP00000261304.2:p.Tyr370Ter
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*508C>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1032C>G
  hgvsp: ENSP00000377199.2:p.Tyr344Ter
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1100C>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.942C>G
  hgvsp: ENSP00000437513.2:p.Tyr314Ter
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.196C>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7016
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5284
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr370Ter
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

14-88429780-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429780
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429780
    reference: chr 14
allele count: 1
allele frequency: 8.2917364554485e-6
allele num: 120602
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.476A>T
  hgvsp: ENSP00000450472.1:p.Tyr159Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*507A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1040A>T
  hgvsp: ENSP00000377198.4:p.Tyr347Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.195A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1031A>T
  hgvsp: ENSP00000377199.2:p.Tyr344Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.941A>T
  hgvsp: ENSP00000437513.2:p.Tyr314Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1109A>T
  hgvsp: ENSP00000261304.2:p.Tyr370Phe
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1099A>T
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Tyr370Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

14-88429780-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429780
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429780
    reference: chr 14
allele count: 6
allele frequency: 4.9750418732691e-5
allele num: 120602
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*507A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.476A>C
  hgvsp: ENSP00000450472.1:p.Tyr159Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.941A>C
  hgvsp: ENSP00000437513.2:p.Tyr314Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1099A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1031A>C
  hgvsp: ENSP00000377199.2:p.Tyr344Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1040A>C
  hgvsp: ENSP00000377198.4:p.Tyr347Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.195A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1109A>C
  hgvsp: ENSP00000261304.2:p.Tyr370Ser
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Tyr370Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

14-88429783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429783
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429783
    reference: chr 14
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1096G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*504G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1037G>A
  hgvsp: ENSP00000377198.4:p.Ser346Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.473G>A
  hgvsp: ENSP00000450472.1:p.Ser158Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.192G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.938G>A
  hgvsp: ENSP00000437513.2:p.Ser313Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1106G>A
  hgvsp: ENSP00000261304.2:p.Ser369Asn
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1028G>A
  hgvsp: ENSP00000377199.2:p.Ser343Asn
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5285
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser369Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

14-88429786-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429786
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429786
    reference: chr 14
allele count: 1
allele frequency: 8.29242404139578e-6
allele num: 120592
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1025G>C
  hgvsp: ENSP00000377199.2:p.Gly342Ala
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1093G>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1103G>C
  hgvsp: ENSP00000261304.2:p.Gly368Ala
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1034G>C
  hgvsp: ENSP00000377198.4:p.Gly345Ala
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.470G>C
  hgvsp: ENSP00000450472.1:p.Gly157Ala
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.935G>C
  hgvsp: ENSP00000437513.2:p.Gly312Ala
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*501G>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.189G>C
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13410
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly368Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD

14-88429801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429801
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429801
    reference: chr 14
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1019A>G
  hgvsp: ENSP00000377198.4:p.His340Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.455A>G
  hgvsp: ENSP00000450472.1:p.His152Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1088A>G
  hgvsp: ENSP00000261304.2:p.His363Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.920A>G
  hgvsp: ENSP00000437513.2:p.His307Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1010A>G
  hgvsp: ENSP00000377199.2:p.His337Arg
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*486A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.174A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1078A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33903
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1321
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His363Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/14-88429805-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429805
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429806
    reference: chr 14
allele count: 3
allele frequency: 2.488593944421402e-5
allele num: 120550
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.1005dupT
  hgvsp: ENSP00000377199.2:p.Gly336TrpfsTer14
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.169dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*481dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1073dupT
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1083dupT
  hgvsp: ENSP00000261304.2:p.Gly362TrpfsTer14
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.915dupT
  hgvsp: ENSP00000437513.2:p.Gly306TrpfsTer14
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.450dupT
  hgvsp: ENSP00000450472.1:p.Gly151TrpfsTer14
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1014dupT
  hgvsp: ENSP00000377198.4:p.Gly339TrpfsTer14
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13406
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33882
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly362TrpfsTer14
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

14-88429817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429817
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429817
    reference: chr 14
allele count: 570
allele frequency: 4.729897933781429e-3
allele num: 120510
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1003C>T
  hgvsp: ENST00000393568.4:c.1003C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1062C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*470C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.994C>T
  hgvsp: ENST00000393569.2:c.994C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.439C>T
  hgvsp: ENST00000555000.1:c.439C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1072C>T
  hgvsp: ENST00000261304.2:c.1072C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.904C>T
  hgvsp: ENST00000544807.2:c.904C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.158C>T
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 5.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 7.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 6977
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 5.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 8.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13325
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 9.75e1
  variant carriers: 160
genotype depth: GenotypeDepth
  all individuals: 33524
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 6.75e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47685
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu358Leu
num of homozygotes: 9
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-88429818-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429818
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429818
    reference: chr 14
allele count: 1
allele frequency: 8.298341991270144e-6
allele num: 120506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.903C>T
  hgvsp: ENST00000544807.2:c.903C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*469C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1061C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.993C>T
  hgvsp: ENST00000393569.2:c.993C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1071C>T
  hgvsp: ENST00000261304.2:c.1071C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.438C>T
  hgvsp: ENST00000555000.1:c.438C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.1002C>T
  hgvsp: ENST00000393568.4:c.1002C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.157C>T
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33554
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 832
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr357Tyr
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-88429822-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429822
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429822
    reference: chr 14
allele count: 1
allele frequency: 8.299030673217368e-6
allele num: 120496
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.899A>C
  hgvsp: ENSP00000437513.2:p.Tyr300Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.989A>C
  hgvsp: ENSP00000377199.2:p.Tyr330Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*465A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.998A>C
  hgvsp: ENSP00000377198.4:p.Tyr333Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1057A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.434A>C
  hgvsp: ENSP00000450472.1:p.Tyr145Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1067A>C
  hgvsp: ENSP00000261304.2:p.Tyr356Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.153A>C
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 33550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48067
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1289
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr356Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

14-88429829-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429829
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429829
    reference: chr 14
allele count: 1
allele frequency: 8.303165166561494e-6
allele num: 120436
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.982G>A
  hgvsp: ENSP00000377199.2:p.Gly328Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.427G>A
  hgvsp: ENSP00000450472.1:p.Gly143Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.892G>A
  hgvsp: ENSP00000437513.2:p.Gly298Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1060G>A
  hgvsp: ENSP00000261304.2:p.Gly354Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1050G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*458G>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.991G>A
  hgvsp: ENSP00000377198.4:p.Gly331Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.146G>A
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7101
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2151
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly354Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum

14-88429832-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429832
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429832
    reference: chr 14
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1057C>A
  hgvsp: ENSP00000261304.2:p.Pro353Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.424C>A
  hgvsp: ENSP00000450472.1:p.Pro142Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.889C>A
  hgvsp: ENSP00000437513.2:p.Pro297Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1047C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.143C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*455C>A
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.979C>A
  hgvsp: ENSP00000377199.2:p.Pro327Thr
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.988C>A
  hgvsp: ENSP00000377198.4:p.Pro330Thr
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2149
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13547
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33475
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro353Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-88429833-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429833
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429833
    reference: chr 14
allele count: 1
allele frequency: 8.305785810395521e-6
allele num: 120398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.987A>G
  hgvsp: ENST00000393568.4:c.987A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1056A>G
  hgvsp: ENST00000261304.2:c.1056A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.423A>G
  hgvsp: ENST00000555000.1:c.423A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.888A>G
  hgvsp: ENST00000544807.2:c.888A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.142A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.978A>G
  hgvsp: ENST00000393569.2:c.978A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1046A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*454A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13543
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5248
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln352Gln
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-88429840-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429840
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429840
    reference: chr 14
allele count: 1
allele frequency: 8.310203267571925e-6
allele num: 120334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*447T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1049T>G
  hgvsp: ENSP00000261304.2:p.Phe350Cys
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.881T>G
  hgvsp: ENSP00000437513.2:p.Phe294Cys
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.416T>G
  hgvsp: ENSP00000450472.1:p.Phe139Cys
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.971T>G
  hgvsp: ENSP00000377199.2:p.Phe324Cys
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1039T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.980T>G
  hgvsp: ENSP00000377198.4:p.Phe327Cys
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.135T>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33379
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47958
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Phe350Cys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

14-88429843-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429843
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429843
    reference: chr 14
allele count: 1
allele frequency: 8.319329129299013e-6
allele num: 120202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1036A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.413A>C
  hgvsp: ENSP00000450472.1:p.Gln138Pro
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.968A>C
  hgvsp: ENSP00000377199.2:p.Gln323Pro
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.132A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1046A>C
  hgvsp: ENSP00000261304.2:p.Gln349Pro
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*444A>C
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.977A>C
  hgvsp: ENSP00000377198.4:p.Gln326Pro
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.878A>C
  hgvsp: ENSP00000437513.2:p.Gln293Pro
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7083
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gln349Pro
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

14-88429847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429847
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429847
    reference: chr 14
allele count: 23
allele frequency: 1.914847561483258e-4
allele num: 120114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.409A>T
  hgvsp: ENSP00000450472.1:p.Thr137Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1042A>T
  hgvsp: ENSP00000261304.2:p.Thr348Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.973A>T
  hgvsp: ENSP00000377198.4:p.Thr325Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1032A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*440A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.128A>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.964A>T
  hgvsp: ENSP00000377199.2:p.Thr322Ser
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.874A>T
  hgvsp: ENSP00000437513.2:p.Thr292Ser
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr348Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

14-88429849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429849
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429849
    reference: chr 14
allele count: 1
allele frequency: 8.327365388138501e-6
allele num: 120086
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.962C>T
  hgvsp: ENSP00000377199.2:p.Thr321Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.407C>T
  hgvsp: ENSP00000450472.1:p.Thr136Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.971C>T
  hgvsp: ENSP00000377198.4:p.Thr324Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.126C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.872C>T
  hgvsp: ENSP00000437513.2:p.Thr291Ile
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1030C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*438C>T
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1040C>T
  hgvsp: ENSP00000261304.2:p.Thr347Ile
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33016
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2586
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr347Ile
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD

14-88429859-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429859
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429859
    reference: chr 14
allele count: 12
allele frequency: 1.002657041159072e-4
allele num: 119682
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.120-4A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1034-4A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.965-4A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.401-4A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1024-4A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.866-4A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.956-4A>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*432-4A>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13350
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6997
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32390
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46750
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1034-4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/14-88429860-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429860
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429860
    reference: chr 14
allele count: 1
allele frequency: 8.367920739054759e-6
allele num: 119504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000437513
  ensembl transcript: ENST00000544807
  gene symbol: GALC
  hgvsc: ENST00000544807.2:c.866-5T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000557520
  gene symbol: GALC
  hgvsc: ENST00000557520.1:n.120-5T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377199
  ensembl transcript: ENST00000393569
  gene symbol: GALC
  hgvsc: ENST00000393569.2:c.956-5T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000450472
  ensembl transcript: ENST00000555000
  gene symbol: GALC
  hgvsc: ENST00000555000.1:c.401-5T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl transcript: ENST00000474294
  gene symbol: GALC
  hgvsc: ENST00000474294.2:n.1024-5T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000261304
  ensembl transcript: ENST00000261304
  gene symbol: GALC
  hgvsc: ENST00000261304.2:c.1034-5T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000452314
  ensembl transcript: ENST00000557316
  gene symbol: GALC
  hgvsc: ENST00000557316.1:c.*432-5T>G
  variant of: http://identifiers.org/hgnc/4115
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000054983
  ensembl protein: ENSP00000377198
  ensembl transcript: ENST00000393568
  gene symbol: GALC
  hgvsc: ENST00000393568.4:c.965-5T>G
  variant of: http://identifiers.org/hgnc/4115
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13284
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2131
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32034
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1376
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
hgvs: c.1034-5T>G
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/14-88429876-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 88429876
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 88429876
allele count: 3
allele frequency: 2.529681597409606e-5
allele num: 118592
alternate allele: A
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 195
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5189
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48820
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.53907716932927e-5
allele num: 64974
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9644
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

QD
type: SiteQuality
SIO_000300: 8.65e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 2.687e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.452e0

DP
type: SiteQuality
SIO_000300: 1.655187e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 1017
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 316
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537704514700455e-5
allele num: 65032
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 2.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.573e0

DP
type: SiteQuality
SIO_000300: 1.649747e6

QD
type: SiteQuality
SIO_000300: 1.066e1

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5036
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537988311288834e-5
allele num: 65020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.738e0

QD
type: SiteQuality
SIO_000300: 1.848e1

MQ
type: SiteQuality
SIO_000300: 6.028e1

FS
type: SiteQuality
SIO_000300: 1.524e0

MQRankSum
type: SiteQuality
SIO_000300: 2.75e-1

DP
type: SiteQuality
SIO_000300: 1.648291e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.856000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.316e0

GenotypeQuality
all individuals: 73
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5014
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43648
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 308
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11176
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538508877196221e-5
allele num: 64998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.91e-1

FS
type: SiteQuality
SIO_000300: 8.29e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 1.647298e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.34e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
all individuals: 40370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 338
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 934
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.075976622577668e-5
allele num: 65020
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-1

QD
type: SiteQuality
SIO_000300: 6.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

DP
type: SiteQuality
SIO_000300: 1.646673e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 1.247e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

GenotypeQuality
all individuals: 355
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4866
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39937
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11174
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.160670280926565e-5
allele num: 16232
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.515e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.487e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

QD
type: SiteQuality
SIO_000300: 1.129e1

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 1.647429e6

VQSLOD
type: SiteQuality
SIO_000300: -1.329e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20261
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3829
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 302
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6382
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.578282828282828e-5
allele num: 63360
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.871e0

QD
type: SiteQuality
SIO_000300: 1.414e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

MQ
type: SiteQuality
SIO_000300: 6.024e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.793627e6

GenotypeQuality
all individuals: 2960
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 13535
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3287
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4172
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3178
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3116
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2672
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7594
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6158
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14790
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719927075092016e-5
allele num: 58142
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.818181818181819e-4
allele num: 8800
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.015e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

QD
type: SiteQuality
SIO_000300: 2.533e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

FS
type: SiteQuality
SIO_000300: 1.289e0

DP
type: SiteQuality
SIO_000300: 2.076154e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

GenotypeQuality
all individuals: 2672
bin: 7.25e1
variant carriers: 2670

GenotypeQuality
all individuals: 2960
bin: 3.25e1
variant carriers: 2958

GenotypeQuality
all individuals: 4172
bin: 4.75e1
variant carriers: 4170

GenotypeQuality
all individuals: 3287
bin: 5.25e1
variant carriers: 3283

GenotypeQuality
all individuals: 1823
bin: 8.75e1
variant carriers: 1822

GenotypeQuality
all individuals: 13535
bin: 9.75e1
variant carriers: 13532

GenotypeQuality
all individuals: 3178
bin: 4.25e1
variant carriers: 3172

GenotypeQuality
all individuals: 1503
bin: 8.25e1
variant carriers: 1502

GenotypeQuality
all individuals: 2423
bin: 6.75e1
variant carriers: 2423

European (Non-Finnish)
type: Population
allele count: 57433
allele frequency: 9.878057170375976e-1
allele num: 58142
num of homozygotes: 28362

Latino
type: Population
allele count: 10020
allele frequency: 9.83510011778563e-1
allele num: 10188
num of homozygotes: 4926

African
type: Population
allele count: 7491
allele frequency: 8.5125e-1
allele num: 8800
num of homozygotes: 3134

Other
type: Population
allele count: 816
allele frequency: 9.878934624697336e-1
allele num: 826
num of homozygotes: 403

East Asian
type: Population
allele count: 7536
allele frequency: 9.923623913616013e-1
allele num: 7594
num of homozygotes: 3739

European (Finnish)
type: Population
allele count: 6140
allele frequency: 9.970769730431959e-1
allele num: 6158
num of homozygotes: 3061

South Asian
type: Population
allele count: 14670
allele frequency: 9.918864097363083e-1
allele num: 14790
num of homozygotes: 7275

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

FS
type: SiteQuality
SIO_000300: 1.289e0

DP
type: SiteQuality
SIO_000300: 2.076154e6

MQ
type: SiteQuality
SIO_000300: 6.015e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 2.533e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

GenotypeQuality
all individuals: 3372
bin: 5.75e1
variant carriers: 19

GenotypeQuality
all individuals: 2583
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 3287
bin: 5.25e1
variant carriers: 21

GenotypeQuality
all individuals: 1657
bin: 1.75e1
variant carriers: 64

GenotypeQuality
all individuals: 4172
bin: 4.75e1
variant carriers: 27

GenotypeQuality
all individuals: 3116
bin: 3.75e1
variant carriers: 27

GenotypeQuality
all individuals: 1567
bin: 9.25e1
variant carriers: 14

GenotypeQuality
all individuals: 1503
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2960
bin: 3.25e1
variant carriers: 46

South Asian
type: Population
allele count: 18
allele frequency: 1.217038539553753e-3
allele num: 14790
num of homozygotes: 0

East Asian
type: Population
allele count: 31
allele frequency: 4.082170134316566e-3
allele num: 7594
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 2.272727272727273e-3
allele num: 8800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.299123091912959e-3
allele num: 6158
num of homozygotes: 0

Latino
type: Population
allele count: 36
allele frequency: 3.53356890459364e-3
allele num: 10188
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 393
allele frequency: 6.759313405111623e-3
allele num: 58142
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.421307506053269e-3
allele num: 826
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.85e-2

MQ
type: SiteQuality
SIO_000300: 6.015e1

FS
type: SiteQuality
SIO_000300: 1.289e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e-1

QD
type: SiteQuality
SIO_000300: 2.533e1

DP
type: SiteQuality
SIO_000300: 2.076154e6

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

GenotypeQuality
all individuals: 27
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.0e-1
allele num: 6
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.346e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.24e0

QD
type: SiteQuality
SIO_000300: 4.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

DP
type: SiteQuality
SIO_000300: 9.286e3

MQ
type: SiteQuality
SIO_000300: 5.964e1

GenotypeQuality
all individuals: 8184
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2019
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3915
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

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

African
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: 56434
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.55e0

VQSLOD
type: SiteQuality
SIO_000300: -2.436e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

DP
type: SiteQuality
SIO_000300: 1.496982e6

QD
type: SiteQuality
SIO_000300: 2.801e1

MQ
type: SiteQuality
SIO_000300: 6.051e1

GenotypeQuality
all individuals: 461
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2208
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 535
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 557
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7474
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.572704537334762e-5
allele num: 55980
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.46e-1

DP
type: SiteQuality
SIO_000300: 1.474078e6

MQRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 4.323e0

QD
type: SiteQuality
SIO_000300: 9.9e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.273e0

GenotypeQuality
all individuals: 18144
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 686
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1925
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 613
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55302
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.176747469992939e-4
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7362
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6070
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.427051e6

VQSLOD
type: SiteQuality
SIO_000300: -3.086e0

QD
type: SiteQuality
SIO_000300: 9.9e0

MQ
type: SiteQuality
SIO_000300: 6.09e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.844e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 665
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 669
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 251
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8249
bin: 9.75e1
variant carriers: 92

GenotypeQuality
all individuals: 8795
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 552
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14816
num of homozygotes: 0

African
type: Population
allele count: 98
allele frequency: 1.17168818747011e-2
allele num: 8364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6034
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.942334460131238e-5
allele num: 10058
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54242
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7232
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.279e1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.376458e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.366e0

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

GenotypeQuality
all individuals: 2122
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7147
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.865532422953511e-5
allele num: 53604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5996
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.354246e6

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.8e-3

QD
type: SiteQuality
SIO_000300: 1.19e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.662e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6117
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7230
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5407
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17782
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 532
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7054
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.407387215483167e-4
allele num: 14674
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 53018
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9876
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 1.317e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.0e0

DP
type: SiteQuality
SIO_000300: 1.341402e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.983e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-2

FS
type: SiteQuality
SIO_000300: 8.91e-1

GenotypeQuality
all individuals: 8179
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1005
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5854
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1092
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 3.681885125184094e-4
allele num: 8148
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9882
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 782
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.88821752265861e-5
allele num: 52960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14672
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.619999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.359e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.95e-1

DP
type: SiteQuality
SIO_000300: 1.336445e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.3e-1

GenotypeQuality
all individuals: 280
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 501
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variant carriers: 0

GenotypeQuality
all individuals: 579
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8177
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3840
bin: 6.25e1
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GenotypeQuality
all individuals: 1651
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variant carriers: 0

GenotypeQuality
all individuals: 5174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14464
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.033057851239669e-4
allele num: 9680
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5864
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

DP
type: SiteQuality
SIO_000300: 1.315244e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

QD
type: SiteQuality
SIO_000300: 1.407e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.32e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2836
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GenotypeQuality
all individuals: 7498
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 364
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variant carriers: 0

GenotypeQuality
all individuals: 504
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GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.277139208173691e-4
allele num: 7830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49742
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.300957e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

GenotypeQuality
all individuals: 364
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5392
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 494
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variant carriers: 0

GenotypeQuality
all individuals: 2863
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14308
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 756
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49742
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.984183825723665e-4
allele num: 6702
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

QD
type: SiteQuality
SIO_000300: 1.443e1

DP
type: SiteQuality
SIO_000300: 1.300957e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.62e-1

GenotypeQuality
all individuals: 12494
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1714
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 262
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2031
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14012
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 86
allele frequency: 1.823347326463978e-3
allele num: 47166
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 2.197802197802198e-4
allele num: 9100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6398
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.014e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e0

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-2

DP
type: SiteQuality
SIO_000300: 1.289286e6

QD
type: SiteQuality
SIO_000300: 1.46e1

GenotypeQuality
all individuals: 494
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 748
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5711
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8178
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5327
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.158149171270718e-5
allele num: 46336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8984
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5650
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6336
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7504
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 3.98e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.246e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.175e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

DP
type: SiteQuality
SIO_000300: 1.287663e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.399999999999999e-3

GenotypeQuality
all individuals: 637
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1376
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6953
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1620
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1314
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 953
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4393
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 772
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3377
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7106
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5910
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.960707423238304e-5
allele num: 51002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.643e0

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.016539e6

MQ
type: SiteQuality
SIO_000300: 5.845e1

QD
type: SiteQuality
SIO_000300: 1.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

GenotypeQuality
all individuals: 3616
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2537
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 869
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9724
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 274
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17838
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9864
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5600
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13978
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7340
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.947647242131505e-5
allele num: 51344
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

QD
type: SiteQuality
SIO_000300: 9.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.562e0

DP
type: SiteQuality
SIO_000300: 1.08094e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

GenotypeQuality
all individuals: 5756
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10029
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3412
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1090
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 832
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2007
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 7.079144839303412e-5
allele num: 14126
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7386
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 51882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5688
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.121637e6

QD
type: SiteQuality
SIO_000300: 1.23e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.299e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
all individuals: 599
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2970
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1119
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 286
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3763
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14166
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7460
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.748251748251748e-4
allele num: 5720
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 52100
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.636e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.791e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.145065e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.8e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 355
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2832
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26239
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 911
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 295
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1168
bin: 7.75e1
variant carriers: 3

GenotypeQuality
all individuals: 469
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9955
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2322
bin: 9.75e1
variant carriers: 327

GenotypeQuality
all individuals: 2785
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 219
allele frequency: 4.145528886196714e-3
allele num: 52828
num of homozygotes: 0

Latino
type: Population
allele count: 95
allele frequency: 9.365141955835963e-3
allele num: 10144
num of homozygotes: 3

East Asian
type: Population
allele count: 1
allele frequency: 1.708817498291183e-4
allele num: 5852
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.464713715046604e-3
allele num: 7510
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14292
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.497504159733777e-3
allele num: 6010
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 7.462686567164179e-3
allele num: 804
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.648e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 1.185981e6

VQSLOD
type: SiteQuality
SIO_000300: 5.98e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.51e0

GenotypeQuality
all individuals: 77
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 464
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2023
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 582
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2443
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30024
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3406
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 857
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 779
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2074
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7628
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.720653346727685e-5
allele num: 53754
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14444
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.27e0

DP
type: SiteQuality
SIO_000300: 1.223016e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

FS
type: SiteQuality
SIO_000300: 1.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

QD
type: SiteQuality
SIO_000300: 1.387e1

GenotypeQuality
all individuals: 615
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2039
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38426
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.470588235294118e-4
allele num: 6800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15086
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 57834
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.56e-1

QD
type: SiteQuality
SIO_000300: 1.552e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 3.033e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

DP
type: SiteQuality
SIO_000300: 1.33833e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 823
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2057
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5507
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1139
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 974
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41119
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15476
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.182312603452353e-4
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.67022982362373e-5
allele num: 59872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7296
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e0

VQSLOD
type: SiteQuality
SIO_000300: 4.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.43e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 4.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
SIO_000300: 1.752e1

DP
type: SiteQuality
SIO_000300: 1.38157e6

GenotypeQuality
all individuals: 163
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1481
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4396
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42539
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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1145
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.638968105680664e-5
allele num: 61014
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15704
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.802e0

DP
type: SiteQuality
SIO_000300: 1.405076e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.7e-1

QD
type: SiteQuality
SIO_000300: 1.071e1

MQRankSum
type: SiteQuality
SIO_000300: -3.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

GenotypeQuality
all individuals: 42901
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4414
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 980
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 378
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 517
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 105
allele frequency: 1.367899947889526e-2
allele num: 7676
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.143118427069044e-4
allele num: 8748
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11082
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628240197994008e-5
allele num: 61416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.841e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.41369e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.75e0

QD
type: SiteQuality
SIO_000300: 1.243e1

GenotypeQuality
all individuals: 135
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42985
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variant carriers: 0

GenotypeQuality
all individuals: 328
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GenotypeQuality
all individuals: 993
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variant carriers: 0

GenotypeQuality
all individuals: 233
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variant carriers: 0

GenotypeQuality
all individuals: 95
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GenotypeQuality
all individuals: 582
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variant carriers: 0

GenotypeQuality
all individuals: 2075
bin: 9.75e1
variant carriers: 1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15816
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8788
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.620693008330362e-5
allele num: 61702
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7732
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.147e0

QD
type: SiteQuality
SIO_000300: 2.072e1

FS
type: SiteQuality
SIO_000300: 2.775e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.743e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

DP
type: SiteQuality
SIO_000300: 1.417729e6

GenotypeQuality
all individuals: 1169
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 414
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3784
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2077
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43618
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15858
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.612279117760867e-5
allele num: 62024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7804
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11142
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.121e1

DP
type: SiteQuality
SIO_000300: 1.423526e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.849e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1516
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4549
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 315
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2930
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1170
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9070
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63018
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.242197253433208e-5
allele num: 16020
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.312e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.73e0

DP
type: SiteQuality
SIO_000300: 1.441091e6

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.27e-1

FS
type: SiteQuality
SIO_000300: 6.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.115e0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 604
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 47247
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 60
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variant carriers: 0

GenotypeQuality
all individuals: 1546
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variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 4737
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variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.641988139634407e-5
allele num: 65428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 10
allele frequency: 1.182872013248167e-3
allele num: 8454
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.104260774020266e-5
allele num: 16382
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.8e-1

QD
type: SiteQuality
SIO_000300: 1.568e1

DP
type: SiteQuality
SIO_000300: 1.478052e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
all individuals: 893
bin: 7.75e1
variant carriers: 6

GenotypeQuality
all individuals: 15264
bin: 9.75e1
variant carriers: 13880

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
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variant carriers: 8

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
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GenotypeQuality
all individuals: 20
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variant carriers: 2

GenotypeQuality
all individuals: 725
bin: 7.25e1
variant carriers: 6

GenotypeQuality
all individuals: 565
bin: 8.25e1
variant carriers: 7

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 4

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1587
allele frequency: 9.635701275045537e-2
allele num: 16470
num of homozygotes: 88

Latino
type: Population
allele count: 1641
allele frequency: 1.431437543614794e-1
allele num: 11464
num of homozygotes: 110

Other
type: Population
allele count: 117
allele frequency: 1.308724832214765e-1
allele num: 894
num of homozygotes: 6

African
type: Population
allele count: 365
allele frequency: 3.767547481420314e-2
allele num: 9688
num of homozygotes: 4

European (Non-Finnish)
type: Population
allele count: 10152
allele frequency: 1.529145955716222e-1
allele num: 66390
num of homozygotes: 756

East Asian
type: Population
allele count: 37
allele frequency: 4.309340787328209e-3
allele num: 8586
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 1109
allele frequency: 1.680812367384056e-1
allele num: 6598
num of homozygotes: 107

QD
type: SiteQuality
SIO_000300: 1.717e1

FS
type: SiteQuality
SIO_000300: 7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.79e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 4.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

DP
type: SiteQuality
SIO_000300: 2.24797e6

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 573
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5270
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variant carriers: 0

GenotypeQuality
all individuals: 847
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variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 47795
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GenotypeQuality
all individuals: 2634
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1320
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505343971097396e-5
allele num: 66430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.89e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

FS
type: SiteQuality
SIO_000300: 7.08e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.363e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

QD
type: SiteQuality
SIO_000300: 1.264e1

DP
type: SiteQuality
SIO_000300: 1.626056e6

GenotypeQuality
all individuals: 47965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 189
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 8.75e1
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GenotypeQuality
all individuals: 2634
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 5280
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1318
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9724
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66550
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.706e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.5e-1

DP
type: SiteQuality
SIO_000300: 1.627984e6

BaseQRankSum
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SIO_000300: -1.089e0

VQSLOD
type: SiteQuality
SIO_000300: -2.977e-1

QD
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SIO_000300: 1.505e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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SIO_000300: 1.86e0

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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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: 898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9756
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 1.819725827975252e-4
allele num: 16486
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501501501501501e-5
allele num: 66600
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.02e-1

MQ
type: SiteQuality
SIO_000300: 5.925e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 5.06e-1

InbreedingCoeff
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SIO_000300: 1.18e-2

VQSLOD
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SIO_000300: -2.226e0

MQRankSum
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SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 1.628976e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.97e-1

QD
type: SiteQuality
SIO_000300: 2.725e1

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

African
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allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.98e0

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

InbreedingCoeff
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SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 5.458e0

MQ
type: SiteQuality
SIO_000300: 5.341e1

MQRankSum
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SIO_000300: -7.008e0

QD
type: SiteQuality
SIO_000300: 2.94e0

VQSLOD
type: SiteQuality
SIO_000300: -6.65e-1

DP
type: SiteQuality
SIO_000300: 1.630042e6

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.000030000300003e-5
allele num: 66666
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.265e1

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

DP
type: SiteQuality
SIO_000300: 1.630489e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.35e0

FS
type: SiteQuality
SIO_000300: 1.933e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 40

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049695588279399e-4
allele num: 66686
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

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

European (Finnish)
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allele count: 32
allele frequency: 4.842615012106538e-3
allele num: 6608
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.634116e6

MQ
type: SiteQuality
SIO_000300: 5.95e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8622
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Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.243e1

InbreedingCoeff
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.958e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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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: 11530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

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

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

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

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

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

South Asian
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8622
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

Other
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num of homozygotes: 0

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

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

African
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allele frequency: 2.041232904674423e-4
allele num: 9798
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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European (Non-Finnish)
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allele num: 66680
num of homozygotes: 0

East Asian
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DP
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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FS
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 9.25e1
variant carriers: 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: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 66676
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.253e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 1.630315e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.3e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.409999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.129e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 5

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48097
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
num of homozygotes: 0

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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.999520038396928e-5
allele num: 66672
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.318e0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 1.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

DP
type: SiteQuality
SIO_000300: 1.630694e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

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

GenotypeQuality
all individuals: 15
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48097
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999760019198464e-5
allele num: 66672
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.33e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 1.797e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.52e-1

DP
type: SiteQuality
SIO_000300: 1.630694e6

MQRankSum
type: SiteQuality
SIO_000300: 9.2e-2

QD
type: SiteQuality
SIO_000300: 1.304e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.318e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.33e-2

GenotypeQuality
all individuals: 1324
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 9.75e1
variant carriers: 10

African
type: Population
allele count: 2
allele frequency: 2.041232904674423e-4
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 11508
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.847309743092584e-4
allele num: 16504
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.969e1

QD
type: SiteQuality
SIO_000300: 1.527e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

DP
type: SiteQuality
SIO_000300: 1.631455e6

GenotypeQuality
all individuals: 48083
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 839
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.500075000750007e-5
allele num: 66666
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: 8620
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.689607229753215e-5
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

QD
type: SiteQuality
SIO_000300: 1.527e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.631455e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.104e0

FS
type: SiteQuality
SIO_000300: 5.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

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

GenotypeQuality
all individuals: 5287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 33
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

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

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 9.75e1
variant carriers: 1

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: 11510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66664
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160092807424594e-4
allele num: 8620
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

QD
type: SiteQuality
SIO_000300: 1.803e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

FS
type: SiteQuality
SIO_000300: 5.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.630935e6

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

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

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2630
bin: 9.75e1
variant carriers: 6

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.688097306689835e-5
allele num: 11510
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: 5
allele frequency: 7.50030001200048e-5
allele num: 66664
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
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: 5.4e-1

QD
type: SiteQuality
SIO_000300: 1.803e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

DP
type: SiteQuality
SIO_000300: 1.630935e6

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 4
bin: 2.5e0
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GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 18
bin: 3.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 48093
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.16e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 1.63025e6

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.42e-1

QD
type: SiteQuality
SIO_000300: 1.753e1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 2624
bin: 9.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 14
bin: 3.75e1
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GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11506
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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: 898
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.020616452337212e-4
allele num: 9798
num of homozygotes: 0

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: 6606
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

FS
type: SiteQuality
SIO_000300: 1.319e0

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.102e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

DP
type: SiteQuality
SIO_000300: 1.630142e6

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 9.84e-1

GenotypeQuality
all individuals: 5278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 841
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 153
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1079
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
num of homozygotes: 0

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: 6600
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.117e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.34e-2

QD
type: SiteQuality
SIO_000300: 1.482e1

MQRankSum
type: SiteQuality
SIO_000300: -9.91e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 1.0691e1

DP
type: SiteQuality
SIO_000300: 1.629712e6

GenotypeQuality
all individuals: 47996
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2623
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 572
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501665616278023e-5
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.194e0

QD
type: SiteQuality
SIO_000300: 1.156e1

VQSLOD
type: SiteQuality
SIO_000300: 1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.06e-1

DP
type: SiteQuality
SIO_000300: 1.629634e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.24e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 552
bin: 9.25e1
variant carriers: 1

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 560

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5194
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.504233979941145e-5
allele num: 66604
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

African
type: Population
allele count: 541
allele frequency: 5.522662311147407e-2
allele num: 9796
num of homozygotes: 9

Latino
type: Population
allele count: 25
allele frequency: 2.173913043478261e-3
allele num: 11500
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.42e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-2

DP
type: SiteQuality
SIO_000300: 1.660653e6

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.51e0

QD
type: SiteQuality
SIO_000300: 1.462e1

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

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
all individuals: 5269
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 21
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variant carriers: 0

GenotypeQuality
all individuals: 2593
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48060
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 1.501276084671971e-5
allele num: 66610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -6.2e0

DP
type: SiteQuality
SIO_000300: 1.631663e6

MQ
type: SiteQuality
SIO_000300: 5.891e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.209e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.23e0

QD
type: SiteQuality
SIO_000300: 1.18e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.949e0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 330
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

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

GenotypeQuality
all individuals: 2593
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.631357e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

VQSLOD
type: SiteQuality
SIO_000300: -6.900000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.26e-1

FS
type: SiteQuality
SIO_000300: 3.462e0

QD
type: SiteQuality
SIO_000300: 1.586e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.36e-1

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 48038
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
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GenotypeQuality
all individuals: 1069
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variant carriers: 0

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

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 20
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variant carriers: 0

GenotypeQuality
all individuals: 1278
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9784
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.027e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

QD
type: SiteQuality
SIO_000300: 1.625e1

FS
type: SiteQuality
SIO_000300: 1.704e0

DP
type: SiteQuality
SIO_000300: 1.630566e6

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.062e0

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.639e0

QD
type: SiteQuality
SIO_000300: 9.76e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.630215e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 48013
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 13
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GenotypeQuality
all individuals: 36
bin: 5.25e1
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GenotypeQuality
all individuals: 555
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GenotypeQuality
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GenotypeQuality
all individuals: 1067
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2590
bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502810255177181e-5
allele num: 66542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.16e-1

DP
type: SiteQuality
SIO_000300: 1.629944e6

FS
type: SiteQuality
SIO_000300: 6.974e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.086e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.63e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.308e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 36
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 10
bin: 4.25e1
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GenotypeQuality
all individuals: 554
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GenotypeQuality
all individuals: 376
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GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 1274
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GenotypeQuality
all individuals: 1065
bin: 7.25e1
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GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66510
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.716e1

MQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 5.497e0

VQSLOD
type: SiteQuality
SIO_000300: -1.263e0

QD
type: SiteQuality
SIO_000300: 1.01e1

DP
type: SiteQuality
SIO_000300: 1.628836e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.72e-1

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

GenotypeQuality
all individuals: 1059
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 543
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2590
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
bin: 5.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9764
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505072092953252e-5
allele num: 66442
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.853e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 6.474e0

VQSLOD
type: SiteQuality
SIO_000300: -1.082e0

QD
type: SiteQuality
SIO_000300: 1.547e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.119e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

DP
type: SiteQuality
SIO_000300: 1.626454e6

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

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47651
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1054
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2605
bin: 9.75e1
variant carriers: 23

GenotypeQuality
all individuals: 5200
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.258832033250008e-4
allele num: 66406
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 4.856726566294317e-4
allele num: 16472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9754
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.626253e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

QD
type: SiteQuality
SIO_000300: 1.363e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 703
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5192
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1050
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 816
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1251
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47616
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 325
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9752
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506341698550899e-5
allele num: 66386
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.205e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.872e0

FS
type: SiteQuality
SIO_000300: 8.67e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.127e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.624082e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 1.396e1

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5118
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2594
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.02416306287235e-5
allele num: 66134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 10
allele frequency: 8.76885303402315e-4
allele num: 11404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.613215e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

QD
type: SiteQuality
SIO_000300: 1.535e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

GenotypeQuality
all individuals: 2584
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1747
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1236
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 806
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46136
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.090875867949811e-5
allele num: 16418
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.607672e6

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 3.175e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.538e0