Summary

Summary {data-width=650}

Manhattan plot

manhattan_plot

QQ plot

qq_plot

AF plot

af_plot

P-Z plot

pz_plot

beta_std plot

beta_std_plot

Metadata

{
    "fileformat": "VCFv4.2",
    "FILTER": "<ID=PASS,Description=\"All filters passed\">",
    "INFO": "<ID=AF,Number=A,Type=Float,Description=\"Allele Frequency\">",
    "FORMAT": "<ID=ES,Number=A,Type=Float,Description=\"Effect size estimate relative to the alternative allele\">",
    "FORMAT.1": "<ID=SE,Number=A,Type=Float,Description=\"Standard error of effect size estimate\">",
    "FORMAT.2": "<ID=LP,Number=A,Type=Float,Description=\"-log10 p-value for effect estimate\">",
    "FORMAT.3": "<ID=AF,Number=A,Type=Float,Description=\"Alternate allele frequency in the association study\">",
    "FORMAT.4": "<ID=SS,Number=A,Type=Float,Description=\"Sample size used to estimate genetic effect\">",
    "FORMAT.5": "<ID=EZ,Number=A,Type=Float,Description=\"Z-score provided if it was used to derive the EFFECT and SE fields\">",
    "FORMAT.6": "<ID=SI,Number=A,Type=Float,Description=\"Accuracy score of summary data imputation\">",
    "FORMAT.7": "<ID=NC,Number=A,Type=Float,Description=\"Number of cases used to estimate genetic effect\">",
    "FORMAT.8": "<ID=ID,Number=1,Type=String,Description=\"Study variant identifier\">",
    "META": "<ID=TotalVariants,Number=1,Type=Integer,Description=\"Total number of variants in input\">",
    "META.1": "<ID=VariantsNotRead,Number=1,Type=Integer,Description=\"Number of variants that could not be read\">",
    "META.2": "<ID=HarmonisedVariants,Number=1,Type=Integer,Description=\"Total number of harmonised variants\">",
    "META.3": "<ID=VariantsNotHarmonised,Number=1,Type=Integer,Description=\"Total number of variants that could not be harmonised\">",
    "META.4": "<ID=SwitchedAlleles,Number=1,Type=Integer,Description=\"Total number of variants strand switched\">",
    "META.5": "<ID=TotalControls,Number=1,Type=Integer,Description=\"Total number of controls in the association study\">",
    "META.6": "<ID=TotalCases,Number=1,Type=Integer,Description=\"Total number of cases in the association study\">",
    "META.7": "<ID=StudyType,Number=1,Type=String,Description=\"Type of GWAS study [Continuous or CaseControl]\">",
    "SAMPLE": "<ID=ieu-b-4829,TotalVariants=7908954,VariantsNotRead=0,HarmonisedVariants=7908954,VariantsNotHarmonised=0,SwitchedAlleles=3503740,NormalisedVariants=0,StudyType=Continuous>",
    "contig": "<ID=1,length=249250621,assembly=HG19/GRCh37>",
    "contig.1": "<ID=2,length=243199373,assembly=HG19/GRCh37>",
    "contig.2": "<ID=3,length=198022430,assembly=HG19/GRCh37>",
    "contig.3": "<ID=4,length=191154276,assembly=HG19/GRCh37>",
    "contig.4": "<ID=5,length=180915260,assembly=HG19/GRCh37>",
    "contig.5": "<ID=6,length=171115067,assembly=HG19/GRCh37>",
    "contig.6": "<ID=7,length=159138663,assembly=HG19/GRCh37>",
    "contig.7": "<ID=8,length=146364022,assembly=HG19/GRCh37>",
    "contig.8": "<ID=9,length=141213431,assembly=HG19/GRCh37>",
    "contig.9": "<ID=10,length=135534747,assembly=HG19/GRCh37>",
    "contig.10": "<ID=11,length=135006516,assembly=HG19/GRCh37>",
    "contig.11": "<ID=12,length=133851895,assembly=HG19/GRCh37>",
    "contig.12": "<ID=13,length=115169878,assembly=HG19/GRCh37>",
    "contig.13": "<ID=14,length=107349540,assembly=HG19/GRCh37>",
    "contig.14": "<ID=15,length=102531392,assembly=HG19/GRCh37>",
    "contig.15": "<ID=16,length=90354753,assembly=HG19/GRCh37>",
    "contig.16": "<ID=17,length=81195210,assembly=HG19/GRCh37>",
    "contig.17": "<ID=18,length=78077248,assembly=HG19/GRCh37>",
    "contig.18": "<ID=19,length=59128983,assembly=HG19/GRCh37>",
    "contig.19": "<ID=20,length=63025520,assembly=HG19/GRCh37>",
    "contig.20": "<ID=21,length=48129895,assembly=HG19/GRCh37>",
    "contig.21": "<ID=22,length=51304566,assembly=HG19/GRCh37>",
    "contig.22": "<ID=X,length=155270560,assembly=HG19/GRCh37>",
    "contig.23": "<ID=Y,length=59373566,assembly=HG19/GRCh37>",
    "contig.24": "<ID=MT,length=16569,assembly=HG19/GRCh37>",
    "contig.25": "<ID=GL000207.1,length=4262,assembly=HG19/GRCh37>",
    "contig.26": "<ID=GL000226.1,length=15008,assembly=HG19/GRCh37>",
    "contig.27": "<ID=GL000229.1,length=19913,assembly=HG19/GRCh37>",
    "contig.28": "<ID=GL000231.1,length=27386,assembly=HG19/GRCh37>",
    "contig.29": "<ID=GL000210.1,length=27682,assembly=HG19/GRCh37>",
    "contig.30": "<ID=GL000239.1,length=33824,assembly=HG19/GRCh37>",
    "contig.31": "<ID=GL000235.1,length=34474,assembly=HG19/GRCh37>",
    "contig.32": "<ID=GL000201.1,length=36148,assembly=HG19/GRCh37>",
    "contig.33": "<ID=GL000247.1,length=36422,assembly=HG19/GRCh37>",
    "contig.34": "<ID=GL000245.1,length=36651,assembly=HG19/GRCh37>",
    "contig.35": "<ID=GL000197.1,length=37175,assembly=HG19/GRCh37>",
    "contig.36": "<ID=GL000203.1,length=37498,assembly=HG19/GRCh37>",
    "contig.37": "<ID=GL000246.1,length=38154,assembly=HG19/GRCh37>",
    "contig.38": "<ID=GL000249.1,length=38502,assembly=HG19/GRCh37>",
    "contig.39": "<ID=GL000196.1,length=38914,assembly=HG19/GRCh37>",
    "contig.40": "<ID=GL000248.1,length=39786,assembly=HG19/GRCh37>",
    "contig.41": "<ID=GL000244.1,length=39929,assembly=HG19/GRCh37>",
    "contig.42": "<ID=GL000238.1,length=39939,assembly=HG19/GRCh37>",
    "contig.43": "<ID=GL000202.1,length=40103,assembly=HG19/GRCh37>",
    "contig.44": "<ID=GL000234.1,length=40531,assembly=HG19/GRCh37>",
    "contig.45": "<ID=GL000232.1,length=40652,assembly=HG19/GRCh37>",
    "contig.46": "<ID=GL000206.1,length=41001,assembly=HG19/GRCh37>",
    "contig.47": "<ID=GL000240.1,length=41933,assembly=HG19/GRCh37>",
    "contig.48": "<ID=GL000236.1,length=41934,assembly=HG19/GRCh37>",
    "contig.49": "<ID=GL000241.1,length=42152,assembly=HG19/GRCh37>",
    "contig.50": "<ID=GL000243.1,length=43341,assembly=HG19/GRCh37>",
    "contig.51": "<ID=GL000242.1,length=43523,assembly=HG19/GRCh37>",
    "contig.52": "<ID=GL000230.1,length=43691,assembly=HG19/GRCh37>",
    "contig.53": "<ID=GL000237.1,length=45867,assembly=HG19/GRCh37>",
    "contig.54": "<ID=GL000233.1,length=45941,assembly=HG19/GRCh37>",
    "contig.55": "<ID=GL000204.1,length=81310,assembly=HG19/GRCh37>",
    "contig.56": "<ID=GL000198.1,length=90085,assembly=HG19/GRCh37>",
    "contig.57": "<ID=GL000208.1,length=92689,assembly=HG19/GRCh37>",
    "contig.58": "<ID=GL000191.1,length=106433,assembly=HG19/GRCh37>",
    "contig.59": "<ID=GL000227.1,length=128374,assembly=HG19/GRCh37>",
    "contig.60": "<ID=GL000228.1,length=129120,assembly=HG19/GRCh37>",
    "contig.61": "<ID=GL000214.1,length=137718,assembly=HG19/GRCh37>",
    "contig.62": "<ID=GL000221.1,length=155397,assembly=HG19/GRCh37>",
    "contig.63": "<ID=GL000209.1,length=159169,assembly=HG19/GRCh37>",
    "contig.64": "<ID=GL000218.1,length=161147,assembly=HG19/GRCh37>",
    "contig.65": "<ID=GL000220.1,length=161802,assembly=HG19/GRCh37>",
    "contig.66": "<ID=GL000213.1,length=164239,assembly=HG19/GRCh37>",
    "contig.67": "<ID=GL000211.1,length=166566,assembly=HG19/GRCh37>",
    "contig.68": "<ID=GL000199.1,length=169874,assembly=HG19/GRCh37>",
    "contig.69": "<ID=GL000217.1,length=172149,assembly=HG19/GRCh37>",
    "contig.70": "<ID=GL000216.1,length=172294,assembly=HG19/GRCh37>",
    "contig.71": "<ID=GL000215.1,length=172545,assembly=HG19/GRCh37>",
    "contig.72": "<ID=GL000205.1,length=174588,assembly=HG19/GRCh37>",
    "contig.73": "<ID=GL000219.1,length=179198,assembly=HG19/GRCh37>",
    "contig.74": "<ID=GL000224.1,length=179693,assembly=HG19/GRCh37>",
    "contig.75": "<ID=GL000223.1,length=180455,assembly=HG19/GRCh37>",
    "contig.76": "<ID=GL000195.1,length=182896,assembly=HG19/GRCh37>",
    "contig.77": "<ID=GL000212.1,length=186858,assembly=HG19/GRCh37>",
    "contig.78": "<ID=GL000222.1,length=186861,assembly=HG19/GRCh37>",
    "contig.79": "<ID=GL000200.1,length=187035,assembly=HG19/GRCh37>",
    "contig.80": "<ID=GL000193.1,length=189789,assembly=HG19/GRCh37>",
    "contig.81": "<ID=GL000194.1,length=191469,assembly=HG19/GRCh37>",
    "contig.82": "<ID=GL000225.1,length=211173,assembly=HG19/GRCh37>",
    "contig.83": "<ID=GL000192.1,length=547496,assembly=HG19/GRCh37>",
    "Gwas2VCF_command": "--data /data/cromwell-executions/qc/0abdc8a1-0783-4d56-ac67-aae76a6dd892/call-vcf/inputs/-261044503/upload.txt.gz --id ieu-b-4829 --json /data/cromwell-executions/qc/0abdc8a1-0783-4d56-ac67-aae76a6dd892/call-vcf/inputs/-261044503/ieu-b-4829_data.json --ref /data/cromwell-executions/qc/0abdc8a1-0783-4d56-ac67-aae76a6dd892/call-vcf/inputs/1899004205/human_g1k_v37.fasta --dbsnp /data/cromwell-executions/qc/0abdc8a1-0783-4d56-ac67-aae76a6dd892/call-vcf/inputs/-307190728/dbsnp.v153.b37.vcf.gz --out /data/igd/ieu-b-4829/ieu-b-4829.vcf.gz --alias alias.txt; 1.3.0",
    "file_date": "2022-01-05T09:13:36.105121",
    "bcftools_viewVersion": "1.9+htslib-1.9",
    "bcftools_viewCommand": "view -h /data/cromwell-executions/qc/0abdc8a1-0783-4d56-ac67-aae76a6dd892/call-report/inputs/-261044503/ieu-b-4829.vcf.gz; Date=Wed Jan  5 09:32:14 2022"
}
 

LDSC

*********************************************************************
* LD Score Regression (LDSC)
* Version 1.0.1
* (C) 2014-2019 Brendan Bulik-Sullivan and Hilary Finucane
* Broad Institute of MIT and Harvard / MIT Department of Mathematics
* GNU General Public License v3
*********************************************************************
Call: 
./ldsc.py \
--h2 /data/cromwell-executions/qc/0abdc8a1-0783-4d56-ac67-aae76a6dd892/call-ldsc/inputs/-261044503/ieu-b-4829.vcf.gz \
--ref-ld-chr /data/ref/eur_w_ld_chr/ \
--out /data/igd/ieu-b-4829/ldsc.txt \
--w-ld-chr /data/ref/eur_w_ld_chr/ 

Beginning analysis at Wed Jan  5 09:23:24 2022
Reading summary statistics from /data/cromwell-executions/qc/0abdc8a1-0783-4d56-ac67-aae76a6dd892/call-ldsc/inputs/-261044503/ieu-b-4829.vcf.gz ...
Read summary statistics for 7908896 SNPs.
Dropped 38670 SNPs with duplicated rs numbers.
Reading reference panel LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read reference panel LD Scores for 1290028 SNPs.
Removing partitioned LD Scores with zero variance.
Reading regression weight LD Score from /data/ref/eur_w_ld_chr/[1-22] ... (ldscore_fromlist)
Read regression weight LD Scores for 1290028 SNPs.
After merging with reference panel LD, 1197303 SNPs remain.
After merging with regression SNP LD, 1197303 SNPs remain.
Using two-step estimator with cutoff at 30.
Total Observed scale h2: 0.0713 (0.0145)
Lambda GC: 0.977
Mean Chi^2: 1.0529
Intercept: 1.0083 (0.0063)
Ratio: 0.1569 (0.1184)
Analysis finished at Wed Jan  5 09:25:11 2022
Total time elapsed: 1.0m:47.13s

QC metrics

Metrics

Metrics

{
    "af_correlation": "NA",
    "inflation_factor": 1.0576,
    "mean_EFFECT": -2.0673e-06,
    "n": 31740,
    "n_snps": 7908954,
    "n_clumped_hits": 2,
    "n_p_sig": 7,
    "n_mono": 0,
    "n_ns": 285832,
    "n_mac": 0,
    "is_snpid_unique": false,
    "n_miss_EFFECT": 0,
    "n_miss_SE": 0,
    "n_miss_PVAL": 0,
    "n_miss_AF": 7908954,
    "n_miss_AF_reference": 161404,
    "n_est": "NA",
    "ratio_se_n": "NA",
    "mean_diff": "NaN",
    "ratio_diff": "NaN",
    "sd_y_est1": "NaN",
    "sd_y_est2": "NA",
    "r2_sum1": 0,
    "r2_sum2": 0,
    "r2_sum3": 0,
    "r2_sum4": 0,
    "ldsc_nsnp_merge_refpanel_ld": 1197303,
    "ldsc_nsnp_merge_regression_ld": 1197303,
    "ldsc_observed_scale_h2_beta": 0.0713,
    "ldsc_observed_scale_h2_se": 0.0145,
    "ldsc_intercept_beta": 1.0083,
    "ldsc_intercept_se": 0.0063,
    "ldsc_lambda_gc": 0.977,
    "ldsc_mean_chisq": 1.0529,
    "ldsc_ratio": 0.1569
}
 

Flags

name value
af_correlation NA
inflation_factor FALSE
n FALSE
is_snpid_non_unique TRUE
mean_EFFECT_nonfinite FALSE
mean_EFFECT_05 FALSE
mean_EFFECT_01 FALSE
mean_chisq FALSE
n_p_sig FALSE
miss_EFFECT FALSE
miss_SE FALSE
miss_PVAL FALSE
ldsc_ratio FALSE
ldsc_intercept_beta FALSE
n_clumped_hits FALSE
r2_sum1 FALSE
r2_sum2 FALSE
r2_sum3 FALSE
r2_sum4 FALSE

Definitions

General metrics

  • af_correlation: Correlation coefficient between AF and AF_reference.
  • inflation_factor (lambda): Genomic inflation factor.
  • mean_EFFECT: Mean of EFFECT size.
  • n: Maximum value of reported sample size across all SNPs, \(n\).
  • n_clumped_hits: Number of clumped hits.
  • n_snps: Number of SNPs
  • n_p_sig: Number of SNPs with pvalue below 5e-8.
  • n_mono: Number of monomorphic (MAF == 1 or MAF == 0) SNPs.
  • n_ns: Number of SNPs with nonsense values:
    • alleles other than A, C, G or T.
    • P-values < 0 or > 1.
    • negative or infinite standard errors (<= 0 or = Infinity).
    • infinite beta estimates or allele frequencies < 0 or > 1.
  • n_mac: Number of cases where MAC (\(2 \times N \times MAF\)) is less than 6.
  • is_snpid_unique: true if the combination of ID REF ALT is unique and therefore no duplication in snpid.
  • n_miss_<*>: Number of NA observations for <*> column.

se_n metrics

  • n_est: Estimated sample size value, \(\widehat{n}\).
  • ratio_se_n: \(\texttt{ratio_se_n} = \frac{\sqrt{\widehat{n}}}{\sqrt{n}}\). We expect ratio_se_n to be 1. When it is not 1, it implies that the trait did not have a variance of 1, the reported sample size is wrong, or that the SNP-level effective sample sizes differ markedly from the reported sample size.
  • mean_diff: \(\texttt{mean_diff} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta_j}{\texttt{n_snps}}\), mean difference between the standardised beta, predicted from P-values, and the observed beta. The difference should be very close to zero if trait has a variance of 1.
    • \(\widehat{\beta_j^{std}} = \sqrt{\frac{{z}_j^2 / ({z}_j^2 + n -2)}{2 \times {MAF}_j \times (1 - {MAF}_j)}} \times sign({z}_j)\),
    • \({z}_j = \frac{\beta_j}{{se}_j}\),
    • and \(\beta_j\) is the reported effect size.
  • ratio_diff: \(\texttt{ratio_diff} = |\frac{\texttt{mean_diff}}{\texttt{mean_diff2}}|\), absolute ratio between the mean of diff and the mean of diff2 (expected difference between the standardised beta predicted from P-values, and the standardised beta derived from the observed beta divided by the predicted SD; NOT reported). The ratio should be close to 1. If different from 1, then implies that the betas are not in a standard deviation scale.
    • \(\texttt{mean_diff2} = \sum_{j} \frac{\widehat{\beta_j^{std}} - \beta^{\prime}_j}{\texttt{n_snps}}\)
    • \(\beta^{\prime}_j = \frac{\beta_j}{\widehat{\texttt{sd2}}_{y}}\)
  • sd_y_est1: The standard deviation for the trait inferred from the reported sample size, median standard errors for the SNP-trait assocations and SNP variances.
    • \(\widehat{\texttt{sd1}}_{y} = \frac{\sqrt{n} \times median({se}_j)}{C}\),
    • \(C = median(\frac{1}{\sqrt{2 \times {MAF}_j \times (1 - {MAF}_j)}})\),
    • and \({se}_j\) is the reported standard error.
  • sd_y_est2: The standard deviation for the trait inferred from the reported sample size, Z statistics for the SNP-trait effects (beta/se) and allele frequency.
    • \(\widehat{\texttt{sd2}}_{y} = median(\widehat{sd_j})\),
    • \(\widehat{sd_j} = \frac{\beta_j}{\widehat{\beta_j^{std}}}\),

r2 metrics

Sum of variance explained, calculated from the clumped top hits sample.

  • r2_sum<*>: r2 statistics under various assumptions
    • 1: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var1}}}\), \(\texttt{var1} = 1\).
    • 2: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var2}}}\), \(\texttt{var2} = {\widehat{\texttt{sd1}}_{y}}^2\),
    • 3: \(r^2 = \sum_j{\frac{2 \times \beta_j^2 \times {MAF}_j \times (1 - {MAF}_j)}{\texttt{var3}}}\), \(\texttt{var3} = {\widehat{\texttt{sd2}}_{y}}^2\),
    • 4: \(r^2 = \sum_j{\frac{F_j}{F_j + n - 2}}\), \(F = \frac{\beta_j^2}{{se}_j^2}\).

LDSC metrics

Metrics from LD regression

  • ldsc_nsnp_merge_refpanel_ld: Number of remaining SNPs after merging with reference panel LD.
  • ldsc_nsnp_merge_regression_ld: Number of remaining SNPs after merging with regression SNP LD.
  • ldsc_observed_scale_h2_{beta,se} Coefficient value and SE for total observed scale h2.
  • ldsc_intercept_{beta,se}: Coefficient value and SE for intercept. Intercept is expected to be 1.
  • ldsc_lambda_gc: Lambda GC statistics.
  • ldsc_mean_chisq: Mean \(\chi^2\) statistics.
  • ldsc_ratio: \(\frac{\texttt{ldsc_intercept_beta} - 1}{\texttt{ldsc_mean_chisq} - 1}\), the proportion of the inflation in the mean \(\chi^2\) that the LD Score regression intercepts ascribes to causes other than polygenic heritability. The value of ratio should be close to zero, though in practice values of 0.1-0.2 are not uncommon, probably due to sample/reference LD Score mismatch or model misspecification (e.g., low LD variants have slightly higher \(h^2\) per SNP).

Flags

When a metric needs attention, the flag should return TRUE.

  • af_correlation: abs(af_correlation) < 0.7.
  • inflation_factor: inflation_factor > 1.2.
  • n: n (max reported sample size) < 10000.
  • is_snpid_non_unique: NOT is_snpid_unique.
  • mean_EFFECT_nonfinite: mean(EFFECT) is NA, NaN, or Inf.
  • mean_EFFECT_05: abs(mean(EFFECT)) > 0.5.
  • mean_EFFECT_01: abs(mean(EFFECT)) > 0.1.
  • mean_chisq: ldsc_mean_chisq > 1.3 or ldsc_mean_chisq < 0.7.
  • n_p_sig: n_p_sig > 1000.
  • miss_<*>: n_miss_<*> / n_snps > 0.01.
  • ldsc_ratio: ldsc_ratio > 0.5
  • ldsc_intercept_beta: ldsc_intercept_beta > 1.5
  • n_clumped_hits: n_clumped_hits > 1000
  • r2_sum<*>: r2_sum<*> > 0.5

Plots

  • Manhattan plot
    • Red line: \(-log_{10}^{5 \times 10^{-8}}\)
    • Blue line: \(-log_{10}^{5 \times 10^{-5}}\)
  • QQ plot
  • AF plot
  • P-Z plot
  • beta_std plot: Scatter plot between \(\widehat{\beta_j^{std}}\) and \(\beta_j\)

Diagnostics

Details

Summary stats

skim_type skim_variable n_missing complete_rate character.min character.max character.empty character.n_unique character.whitespace logical.mean logical.count numeric.mean numeric.sd numeric.p0 numeric.p25 numeric.p50 numeric.p75 numeric.p100 numeric.hist
character ID 14 0.9999982 3 58 0 7908828 0 NA NA NA NA NA NA NA NA NA NA
character REF 0 1.0000000 1 43 0 16662 0 NA NA NA NA NA NA NA NA NA NA
character ALT 0 1.0000000 1 44 0 6028 0 NA NA NA NA NA NA NA NA NA NA
logical AF 7908954 0.0000000 NA NA NA NA NA NaN : NA NA NA NA NA NA NA NA
numeric CHROM 0 1.0000000 NA NA NA NA NA NA NA 8.639183e+00 5.750530e+00 1.0000e+00 4.000000e+00 8.000000e+00 1.300000e+01 2.200000e+01 ▇▅▅▂▂
numeric POS 0 1.0000000 NA NA NA NA NA NA NA 7.899430e+07 5.634273e+07 3.0200e+02 3.267020e+07 6.968960e+07 1.147462e+08 2.492223e+08 ▇▆▅▂▁
numeric EFFECT 0 1.0000000 NA NA NA NA NA NA NA -2.100000e-06 1.037100e-03 -1.0000e-02 -5.000000e-04 0.000000e+00 5.000000e-04 1.030000e-02 ▁▁▇▁▁
numeric SE 0 1.0000000 NA NA NA NA NA NA NA 8.984000e-04 4.805000e-04 4.0000e-04 5.000000e-04 7.000000e-04 1.100000e-03 2.900000e-03 ▇▂▂▁▁
numeric PVAL 0 1.0000000 NA NA NA NA NA NA NA 4.912438e-01 2.906513e-01 0.0000e+00 2.376999e-01 4.879002e-01 7.426993e-01 1.000000e+00 ▇▇▇▇▇
numeric PVAL_ztest 0 1.0000000 NA NA NA NA NA NA NA 4.932680e-01 2.925548e-01 0.0000e+00 2.301393e-01 5.049851e-01 7.388827e-01 1.000000e+00 ▇▇▇▇▇
numeric AF_reference 161404 0.9795922 NA NA NA NA NA NA NA 2.651678e-01 2.522192e-01 1.9970e-04 5.770770e-02 1.797120e-01 4.141370e-01 1.000000e+00 ▇▃▂▁▁
numeric N 0 1.0000000 NA NA NA NA NA NA NA 3.053130e+04 1.635262e+03 1.7761e+04 2.982200e+04 3.092700e+04 3.174000e+04 3.174000e+04 ▁▁▁▁▇

Head and tail

CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
1 797440 rs58013264 T C 1e-04 7e-04 0.9254000 0.8864030 NA 0.189497 30271
1 798400 rs10900604 A G 2e-04 6e-04 0.7235008 0.7388827 NA 0.410543 30827
1 798959 rs11240777 G A 2e-04 6e-04 0.7327992 0.7388827 NA 0.409944 30827
1 801467 rs61768212 G C 2e-04 7e-04 0.8360000 0.7750970 NA 0.193091 30014
1 804759 rs7526310 C T 1e-04 7e-04 0.8811000 0.8864030 NA 0.193890 30014
1 808223 rs4951933 G C -8e-04 6e-04 0.1736001 0.1824224 NA 0.452077 26151
1 808631 rs11240779 G A -9e-04 6e-04 0.1308001 0.1336144 NA 0.453474 30560
1 808928 rs11240780 C T -8e-04 6e-04 0.1734998 0.1824224 NA 0.452276 30560
1 845274 rs112856858 G T 3e-04 6e-04 0.6337004 0.6170751 NA 0.374002 26151
1 845635 rs117086422 C T 2e-04 6e-04 0.6944996 0.7388827 NA 0.158546 30560
CHROM POS ID REF ALT EFFECT SE PVAL PVAL_ztest AF AF_reference N
22 51177257 rs73174437 C T 0.0013 0.0014 0.3467001 0.3531112 NA 0.0091853 29822
22 51178607 rs6010067 G C 0.0004 0.0016 0.7979001 0.8025873 NA 0.0814696 29822
22 51180878 rs6010069 A G -0.0003 0.0007 0.6435007 0.6682351 NA 0.1589460 26151
22 51180959 rs6010070 A G -0.0004 0.0007 0.5540998 0.5677092 NA 0.2056710 26151
22 51181685 rs34756634 G A -0.0001 0.0007 0.9079999 0.8864030 NA 0.7118610 26151
22 51181687 rs9616955 A T 0.0006 0.0011 0.5655995 0.5854409 NA 0.0485224 26151
22 51181759 rs13056621 A G 0.0001 0.0007 0.9013001 0.8864030 NA 0.6761180 30560
22 51182090 rs28516879 G A -0.0003 0.0010 0.7587994 0.7641772 NA 0.0467252 30111
22 51185848 rs3865764 G A -0.0014 0.0012 0.2454997 0.2433450 NA 0.9776360 29822
22 51188319 rs139620215 T C -0.0028 0.0022 0.2118000 0.2031148 NA 0.0037939 29822

bcf preview

1   797440  rs58013264  T   C   .   PASS    .   ES:SE:LP:SS:ID  0.0001:0.0007:0.0336705:30271:rs58013264
1   798400  rs10900604  A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0006:0.140561:30827:rs10900604
1   798959  rs11240777  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0006:0.135015:30827:rs11240777
1   801467  rs61768212  G   C   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0007:0.0777937:30014:rs61768212
1   804759  rs7526310   C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0001:0.0007:0.0549748:30014:rs7526310
1   808223  rs1557576983    G   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0008:0.0006:0.76045:26151:rs1557576983
1   808631  rs11240779  G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0009:0.0006:0.883392:30560:rs11240779
1   808928  rs1247187939    C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0008:0.0006:0.760701:30560:rs1247187939
1   845274  rs1324283754    G   T   .   PASS    .   ES:SE:LP:SS:ID  0.0003:0.0006:0.198116:26151:rs1324283754
1   845635  rs117086422 C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0006:0.158328:30560:rs117086422
1   845938  rs57760052  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0006:0.116282:30560:rs57760052
1   846078  rs778265812 C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0003:0.0006:0.210137:30560:rs778265812
1   846398  rs58781670  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0001:0.0006:0.0847585:30560:rs58781670
1   846465  rs60454217  C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0042:0.0019:1.58905:29822:rs60454217
1   846543  rs79396034  G   T   .   PASS    .   ES:SE:LP:SS:ID  0.0051:0.002:2.00824:26151:rs79396034
1   846808  rs4475691   C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0003:0.0006:0.180193:30560:rs4475691
1   846864  rs1269142199    G   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0003:0.0006:0.216382:30560:rs1269142199
1   847228  rs3905286   C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0005:0.0006:0.352031:30560:rs3905286
1   847491  rs1158719307    G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.281664:30560:rs1158719307
1   848090  rs4246505   G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.301725:30560:rs4246505
1   848445  rs1156895099    G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.257746:30560:rs1156895099
1   848456  rs11507767  A   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.264002:30560:rs11507767
1   848738  rs3829741   C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.312471:30560:rs3829741
1   850062  rs28723578  A   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.272866:30560:rs28723578
1   850123  rs28622257  C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.30077:30560:rs28622257
1   851190  rs28609852  G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0006:0.267848:30560:rs28609852
1   851204  rs28552953  G   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0003:0.0006:0.208239:30560:rs28552953
1   852664  rs28605311  C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0006:0.0006:0.450261:30560:rs28605311
1   852758  rs4970462   G   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0006:0.0006:0.440812:30560:rs4970462
1   853239  rs4970380   A   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0005:0.0006:0.417255:30560:rs4970380
1   853805  rs3748591   C   T   .   PASS    .   ES:SE:LP:SS:ID  0.0046:0.0016:2.36734:29822:rs3748591
1   854250  rs7537756   A   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0006:0.0006:0.442252:30560:rs7537756
1   854429  rs72902552  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0046:0.0016:2.35076:29822:rs72902552
1   856436  rs34105146  TG  T   .   PASS    .   ES:SE:LP:SS:ID  -0.0004:0.0007:0.257746:26151:rs34105146
1   856476  rs4040605   A   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0005:0.0005:0.469032:30560:rs4040605
1   857177  rs386627408 T   C   .   PASS    .   ES:SE:LP:SS:ID  0.0044:0.0016:2.18943:29822:rs386627408
1   858040  rs4970460   C   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0007:0.0006:0.606074:30560:rs4970460
1   858051  rs4970459   C   T   .   PASS    .   ES:SE:LP:SS:ID  -0.0006:0.0006:0.517126:30560:rs4970459
1   858801  rs7418179   A   G   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0006:0.108184:30560:rs7418179
1   859404  rs71509444  C   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0047:0.0017:2.20025:26151:rs71509444
1   859685  rs111572704 G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0008:0.0006:0.701584:26151:rs111572704
1   859690  rs71509445  C   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0048:0.0018:2.01108:26151:rs71509445
1   859701  rs71509446  C   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0048:0.0018:2.01108:26151:rs71509446
1   859913  rs1187056171    A   G   .   PASS    .   ES:SE:LP:SS:ID  -0.0043:0.0018:1.79751:29822:rs1187056171
1   860416  rs61464428  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0006:0.144057:30560:rs61464428
1   860461  rs57465118  G   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0045:0.0016:2.35922:29822:rs57465118
1   860521  rs57924093  C   A   .   PASS    .   ES:SE:LP:SS:ID  -0.0045:0.0016:2.35922:29822:rs57924093
1   860688  rs60837925  G   A   .   PASS    .   ES:SE:LP:SS:ID  0.0002:0.0006:0.148925:30560:rs60837925
1   860854  rs57816555  T   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0053:0.002:2.1528:26151:rs57816555
1   861008  rs28521172  G   C   .   PASS    .   ES:SE:LP:SS:ID  -0.0045:0.0016:2.34921:29822:rs28521172