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Calling improvements:
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- fixed call -A to behave consistently with -c and -m
- call -c not to output non-ref alleles with no ALT allele
- support for the new symbolic allele <*>
- increase default prior from -mP1e-3 to -mP1.1e-3 to call
clear variants missed by previous default setting
- updated test files for the latest mpileup output (calculation
of QS has changed)
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pd3 committed Nov 7, 2014
1 parent 07e9082 commit 802ff30
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Showing 7 changed files with 4,154 additions and 4,132 deletions.
11 changes: 9 additions & 2 deletions ccall.c
Original file line number Diff line number Diff line change
Expand Up @@ -231,7 +231,14 @@ static int update_bcf1(call_t *call, bcf1_t *rec, const bcf_p1rst_t *pr, double
if (rec->qual > 999) rec->qual = 999;

// Remove unused alleles
int nals_ori = rec->n_allele, nals = !is_var ? 1 : pr->rank0 < 2? 2 : pr->rank0+1;
int nals_ori = rec->n_allele, nals = !is_var && !(call->flag & CALL_KEEPALT) ? 1 : pr->rank0 < 2? 2 : pr->rank0+1;
if ( call->flag & CALL_KEEPALT && nals>1 )
{
if ( rec->d.allele[nals-1][0]=='X' ) nals--; // old version of unseen allele "X"
else if ( rec->d.allele[nals-1][0]=='<' && rec->d.allele[nals-1][1]=='X' && rec->d.allele[nals-1][2]=='>' ) nals--; // old version of unseen allele, "<X>"
else if ( rec->d.allele[nals-1][0]=='<' && rec->d.allele[nals-1][1]=='*' && rec->d.allele[nals-1][2]=='>' ) nals--; // new version of unseen allele, "<*>"
}

if ( nals<rec->n_allele )
{
bcf_update_alleles(call->hdr, rec, (const char**)rec->d.allele, nals);
Expand Down Expand Up @@ -266,7 +273,7 @@ static int update_bcf1(call_t *call, bcf1_t *rec, const bcf_p1rst_t *pr, double
int i;
for (i=0; i<rec->n_sample; i++)
{
int x = bcf_p1_call_gt(p1, pr->f_exp, i);
int x = ( is_var || call->output_tags & CALL_FMT_GQ ) ? bcf_p1_call_gt(p1, pr->f_exp, i) : 2;
int gt = x&3;
if ( !call->ploidy || call->ploidy[i]==2 )
{
Expand Down
19 changes: 11 additions & 8 deletions mcall.c
Original file line number Diff line number Diff line change
Expand Up @@ -694,7 +694,7 @@ static void mcall_set_ref_genotypes(call_t *call, int nals)
call->nhets = 0;
call->ndiploid = 0;

// Set all genotypes to 0/0 and remove PL vector
// Set all genotypes to 0/0 or 0
int *gts = call->gts;
double *pdg = call->pdg;
int isample;
Expand Down Expand Up @@ -1337,7 +1337,8 @@ int mcall(call_t *call, bcf1_t *rec)
for (i=1; i<rec->n_allele; i++)
{
if ( rec->d.allele[i][0]=='X' ) { unseen = i; break; } // old X
if ( rec->d.allele[i][0]=='<' && rec->d.allele[i][1]=='X' && rec->d.allele[i][1]=='>' ) { unseen = i; break; } // new <X>
if ( rec->d.allele[i][0]=='<' && rec->d.allele[i][1]=='X' && rec->d.allele[i][1]=='>' ) { unseen = i; break; } // old <X>
if ( rec->d.allele[i][0]=='<' && rec->d.allele[i][1]=='*' && rec->d.allele[i][1]=='>' ) { unseen = i; break; } // new <*>
}

// Force alleles when calling genotypes given alleles was requested
Expand Down Expand Up @@ -1398,7 +1399,8 @@ int mcall(call_t *call, bcf1_t *rec)
out_als |= 1;
nout++;
}
if ( call->flag & CALL_VARONLY && nout==1 ) return 0;
int is_variant = out_als==1 ? 0 : 1;
if ( call->flag & CALL_VARONLY && !is_variant ) return 0;

// With -A, keep all ALTs except X
if ( call->flag & CALL_KEEPALT )
Expand All @@ -1407,14 +1409,15 @@ int mcall(call_t *call, bcf1_t *rec)
for (i=0; i<nals; i++)
{
if ( rec->d.allele[i][0]=='X' ) continue; // old version of unseen allele "X"
if ( rec->d.allele[i][0]=='<' && rec->d.allele[i][1]=='X' && rec->d.allele[i][2]=='>' ) continue; // new version of unseen allele, "<X>"
if ( rec->d.allele[i][0]=='<' && rec->d.allele[i][1]=='X' && rec->d.allele[i][2]=='>' ) continue; // old version of unseen allele, "<X>"
if ( rec->d.allele[i][0]=='<' && rec->d.allele[i][1]=='*' && rec->d.allele[i][2]=='>' ) continue; // new version of unseen allele, "<*>"
out_als |= 1<<i;
nout++;
}
}

int nAC = 0;
if ( out_als==1 )
if ( out_als==1 ) // only REF allele on output
{
init_allele_trimming_maps(call, 1, nals);
mcall_set_ref_genotypes(call,nals);
Expand All @@ -1425,10 +1428,10 @@ int mcall(call_t *call, bcf1_t *rec)
// The most likely set of alleles includes non-reference allele (or was enforced), call genotypes.
// Note that it is a valid outcome if the called genotypes exclude some of the ALTs.
init_allele_trimming_maps(call, out_als, nals);
if ( call->flag & CALL_CONSTR_TRIO )
{
if ( !is_variant )
mcall_set_ref_genotypes(call,nals); // running with -A, prevent mcall_call_genotypes from putting some ALT back
else if ( call->flag & CALL_CONSTR_TRIO )
mcall_call_trio_genotypes(call, rec, nals,nout,out_als);
}
else
mcall_call_genotypes(call,rec,nals,nout,out_als);

Expand Down
15 changes: 9 additions & 6 deletions test/mpileup.1.out
Original file line number Diff line number Diff line change
@@ -1,13 +1,15 @@
##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##samtoolsVersion=1.1-19-g6b249e2+htslib-1.1-74-g845c515
##samtoolsCommand=samtools mpileup -uvDV -b xxx//mpileup.bam.list -f xxx//mpileup.ref.fa.gz
##reference=file://xxx//mpileup.ref.fa.gz
##contig=<ID=17,length=81195210>
##ALT=<ID=X,Description="Represents allele(s) other than observed.">
##INFO=<ID=INDEL,Number=0,Type=Flag,Description="Indicates that the variant is an INDEL.">
##INFO=<ID=IDV,Number=1,Type=Integer,Description="Maximum number of reads supporting an indel">
##INFO=<ID=IMF,Number=1,Type=Float,Description="Maximum fraction of reads supporting an indel">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth">
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version=3>
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version="3">
##INFO=<ID=RPB,Number=1,Type=Float,Description="Mann-Whitney U test of Read Position Bias (bigger is better)">
##INFO=<ID=MQB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality Bias (bigger is better)">
##INFO=<ID=BQB,Number=1,Type=Float,Description="Mann-Whitney U test of Base Quality Bias (bigger is better)">
Expand All @@ -26,12 +28,13 @@
##INFO=<ID=MQ,Number=1,Type=Integer,Description="Average mapping quality">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG00100 HG00101 HG00102
17 302 . T TA 488 . INDEL;IDV=7;IMF=1;DP=25;VDB=0.27613;SGB=-4.22417;MQSB=0.0443614;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=49 GT:PL:DP:DV 0/1:167,0,96:11:6 0/1:157,0,9:7:6 1/1:201,21,0:7:7
17 828 . T C 410 . DP=25;VDB=0.842082;SGB=-4.20907;RPB=0.950652;MQB=1;MQSB=1;BQB=0.929717;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=60 GT:PL:DP:DV 0/1:211,0,35:12:10 0/1:116,0,91:9:5 1/1:120,12,0:4:4
17 828 . T C 409 . DP=25;VDB=0.842082;SGB=-4.20907;RPB=0.950652;MQB=1;MQSB=1;BQB=0.929717;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=60 GT:PL:DP:DV 0/1:211,0,35:12:10 0/1:116,0,91:9:5 1/1:120,12,0:4:4
17 834 . G A 364 . DP=25;VDB=0.788006;SGB=-4.01214;RPB=0.999233;MQB=1;MQSB=1;BQB=0.821668;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,3,7,10;MQ=60 GT:PL:DP:DV 0/1:185,0,46:11:9 0/1:128,0,59:8:5 1/1:89,9,0:3:3
17 1869 . A T 135 . DP=24;VDB=0.928022;SGB=-11.9537;RPB=0.984127;MQB=0.96464;MQSB=0.931547;BQB=0.359155;MQ0F=0;ICB=0.333333;HOB=0.5;AC=3;AN=6;DP4=6,9,5,4;MQ=58 GT:PL:DP:DV 0/1:115,0,224:18:7 0/1:16,0,104:5:1 0/1:42,3,0:1:1
17 1665 . T C 3.10665 . DP=20;VDB=0.1;SGB=0.346553;RPB=0.222222;MQB=0.611111;MQSB=0.988166;BQB=0.944444;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=7,11,1,1;MQ=55 GT:PL:DP:DV 0/0:0,21,185:7:0 0/0:0,27,222:9:0 0/1:35,0,51:4:2
17 1869 . A T 138 . DP=24;VDB=0.928022;SGB=-11.9537;RPB=0.984127;MQB=0.96464;MQSB=0.931547;BQB=0.359155;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,9,5,4;MQ=58 GT:PL:DP:DV 0/1:115,0,224:18:7 0/1:16,0,104:5:1 1/1:42,3,0:1:1
17 2041 . G A 447 . DP=31;VDB=0.816435;SGB=-4.18892;RPB=0.88473;MQB=0.972375;MQSB=0.968257;BQB=0.311275;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,5,12,7;MQ=58 GT:PL:DP:DV 0/1:229,0,212:21:11 0/1:32,0,24:2:1 1/1:223,21,0:7:7
17 2220 . G A 302 . DP=21;VDB=0.532753;SGB=-3.51597;RPB=0.964198;MQB=0.898397;MQSB=0.875769;BQB=0.0354359;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,2,1,11;MQ=58 GT:PL:DP:DV 0/1:139,0,130:12:6 0/1:69,0,46:4:2 1/1:131,12,0:4:4
17 2564 . A G 232 . DP=15;VDB=0.690812;SGB=-3.20711;RPB=0.197899;MQB=1;MQSB=1;BQB=0.965069;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=1,4,4,5;MQ=60 GT:PL:DP:DV 0/1:88,0,78:6:3 0/1:57,0,56:4:2 1/1:124,12,0:4:4
17 3104 . C T 22.9514 . DP=25;VDB=0.8;SGB=0.346553;RPB=0.717391;MQB=0.956522;MQSB=0.962269;BQB=0.978261;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=8,15,2,0;MQ=58 GT:PL:DP:DV 0/0:0,48,255:16:0 0/0:0,12,144:4:0 0/1:59,0,93:5:2
17 2220 . G A 303 . DP=21;VDB=0.532753;SGB=-3.51597;RPB=0.964198;MQB=0.898397;MQSB=0.875769;BQB=0.0354359;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,2,1,11;MQ=58 GT:PL:DP:DV 0/1:139,0,130:12:6 0/1:69,0,46:4:2 1/1:131,12,0:4:4
17 2564 . A G 233 . DP=15;VDB=0.690812;SGB=-3.20711;RPB=0.197899;MQB=1;MQSB=1;BQB=0.965069;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=1,4,4,5;MQ=60 GT:PL:DP:DV 0/1:88,0,78:6:3 0/1:57,0,56:4:2 1/1:124,12,0:4:4
17 3104 . C T 24.2837 . DP=25;VDB=0.8;SGB=0.346553;RPB=0.717391;MQB=0.956522;MQSB=0.962269;BQB=0.978261;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=8,15,2,0;MQ=58 GT:PL:DP:DV 0/0:0,48,255:16:0 0/0:0,12,144:4:0 0/1:59,0,93:5:2
17 3587 . G A 358 . DP=29;VDB=0.902044;SGB=-3.91326;RPB=0.800999;MQB=1;MQSB=1;BQB=0.156944;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=4,7,10,6;MQ=60 GT:PL:DP:DV 0/1:161,0,184:14:7 0/1:22,0,118:5:1 1/1:212,24,0:8:8
17 3936 . A G 469 . DP=37;VDB=0.0574114;SGB=-4.60123;RPB=0.741697;MQB=0.812605;MQSB=0.143788;BQB=0.883831;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=5,6,6,17;MQ=56 GT:PL:DP:DV 0/1:233,0,206:20:11 0/1:77,0,58:6:4 1/1:196,24,0:8:8
18 changes: 11 additions & 7 deletions test/mpileup.2.out
Original file line number Diff line number Diff line change
@@ -1,13 +1,15 @@
##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##samtoolsVersion=1.1-19-g6b249e2+htslib-1.1-74-g845c515
##samtoolsCommand=samtools mpileup -uvDV -b xxx//mpileup.bam.list -f xxx//mpileup.ref.fa.gz
##reference=file://xxx//mpileup.ref.fa.gz
##contig=<ID=17,length=81195210>
##ALT=<ID=X,Description="Represents allele(s) other than observed.">
##INFO=<ID=INDEL,Number=0,Type=Flag,Description="Indicates that the variant is an INDEL.">
##INFO=<ID=IDV,Number=1,Type=Integer,Description="Maximum number of reads supporting an indel">
##INFO=<ID=IMF,Number=1,Type=Float,Description="Maximum fraction of reads supporting an indel">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth">
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version=3>
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version="3">
##INFO=<ID=RPB,Number=1,Type=Float,Description="Mann-Whitney U test of Read Position Bias (bigger is better)">
##INFO=<ID=MQB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality Bias (bigger is better)">
##INFO=<ID=BQB,Number=1,Type=Float,Description="Mann-Whitney U test of Base Quality Bias (bigger is better)">
Expand All @@ -29,19 +31,21 @@
17 1 . A . . . END=301 GT 0/0 0/0 0/0
17 302 . T TA 488 . INDEL;IDV=7;IMF=1;DP=25;VDB=0.27613;SGB=-4.22417;MQSB=0.0443614;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=49 GT:PL:DP:DV 0/1:167,0,96:11:6 0/1:157,0,9:7:6 1/1:201,21,0:7:7
17 303 . G . . . END=827 GT 0/0 0/0 0/0
17 828 . T C 410 . DP=25;VDB=0.842082;SGB=-4.20907;RPB=0.950652;MQB=1;MQSB=1;BQB=0.929717;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=60 GT:PL:DP:DV 0/1:211,0,35:12:10 0/1:116,0,91:9:5 1/1:120,12,0:4:4
17 828 . T C 409 . DP=25;VDB=0.842082;SGB=-4.20907;RPB=0.950652;MQB=1;MQSB=1;BQB=0.929717;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=60 GT:PL:DP:DV 0/1:211,0,35:12:10 0/1:116,0,91:9:5 1/1:120,12,0:4:4
17 829 . T . . . END=833 GT 0/0 0/0 0/0
17 834 . G A 364 . DP=25;VDB=0.788006;SGB=-4.01214;RPB=0.999233;MQB=1;MQSB=1;BQB=0.821668;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,3,7,10;MQ=60 GT:PL:DP:DV 0/1:185,0,46:11:9 0/1:128,0,59:8:5 1/1:89,9,0:3:3
17 835 . T . . . END=1868 GT 0/0 0/0 0/0
17 1869 . A T 135 . DP=24;VDB=0.928022;SGB=-11.9537;RPB=0.984127;MQB=0.96464;MQSB=0.931547;BQB=0.359155;MQ0F=0;ICB=0.333333;HOB=0.5;AC=3;AN=6;DP4=6,9,5,4;MQ=58 GT:PL:DP:DV 0/1:115,0,224:18:7 0/1:16,0,104:5:1 0/1:42,3,0:1:1
17 835 . T . . . END=1664 GT 0/0 0/0 0/0
17 1665 . T C 3.10665 . DP=20;VDB=0.1;SGB=0.346553;RPB=0.222222;MQB=0.611111;MQSB=0.988166;BQB=0.944444;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=7,11,1,1;MQ=55 GT:PL:DP:DV 0/0:0,21,185:7:0 0/0:0,27,222:9:0 0/1:35,0,51:4:2
17 1666 . G . . . END=1868 GT 0/0 0/0 0/0
17 1869 . A T 138 . DP=24;VDB=0.928022;SGB=-11.9537;RPB=0.984127;MQB=0.96464;MQSB=0.931547;BQB=0.359155;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,9,5,4;MQ=58 GT:PL:DP:DV 0/1:115,0,224:18:7 0/1:16,0,104:5:1 1/1:42,3,0:1:1
17 1870 . C . . . END=2040 GT 0/0 0/0 0/0
17 2041 . G A 447 . DP=31;VDB=0.816435;SGB=-4.18892;RPB=0.88473;MQB=0.972375;MQSB=0.968257;BQB=0.311275;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,5,12,7;MQ=58 GT:PL:DP:DV 0/1:229,0,212:21:11 0/1:32,0,24:2:1 1/1:223,21,0:7:7
17 2042 . G . . . END=2219 GT 0/0 0/0 0/0
17 2220 . G A 302 . DP=21;VDB=0.532753;SGB=-3.51597;RPB=0.964198;MQB=0.898397;MQSB=0.875769;BQB=0.0354359;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,2,1,11;MQ=58 GT:PL:DP:DV 0/1:139,0,130:12:6 0/1:69,0,46:4:2 1/1:131,12,0:4:4
17 2220 . G A 303 . DP=21;VDB=0.532753;SGB=-3.51597;RPB=0.964198;MQB=0.898397;MQSB=0.875769;BQB=0.0354359;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=6,2,1,11;MQ=58 GT:PL:DP:DV 0/1:139,0,130:12:6 0/1:69,0,46:4:2 1/1:131,12,0:4:4
17 2221 . G . . . END=2563 GT 0/0 0/0 0/0
17 2564 . A G 232 . DP=15;VDB=0.690812;SGB=-3.20711;RPB=0.197899;MQB=1;MQSB=1;BQB=0.965069;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=1,4,4,5;MQ=60 GT:PL:DP:DV 0/1:88,0,78:6:3 0/1:57,0,56:4:2 1/1:124,12,0:4:4
17 2564 . A G 233 . DP=15;VDB=0.690812;SGB=-3.20711;RPB=0.197899;MQB=1;MQSB=1;BQB=0.965069;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=1,4,4,5;MQ=60 GT:PL:DP:DV 0/1:88,0,78:6:3 0/1:57,0,56:4:2 1/1:124,12,0:4:4
17 2565 . A . . . END=3103 GT 0/0 0/0 0/0
17 3104 . C T 22.9514 . DP=25;VDB=0.8;SGB=0.346553;RPB=0.717391;MQB=0.956522;MQSB=0.962269;BQB=0.978261;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=8,15,2,0;MQ=58 GT:PL:DP:DV 0/0:0,48,255:16:0 0/0:0,12,144:4:0 0/1:59,0,93:5:2
17 3104 . C T 24.2837 . DP=25;VDB=0.8;SGB=0.346553;RPB=0.717391;MQB=0.956522;MQSB=0.962269;BQB=0.978261;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=8,15,2,0;MQ=58 GT:PL:DP:DV 0/0:0,48,255:16:0 0/0:0,12,144:4:0 0/1:59,0,93:5:2
17 3105 . T . . . END=3586 GT 0/0 0/0 0/0
17 3587 . G A 358 . DP=29;VDB=0.902044;SGB=-3.91326;RPB=0.800999;MQB=1;MQSB=1;BQB=0.156944;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=4,7,10,6;MQ=60 GT:PL:DP:DV 0/1:161,0,184:14:7 0/1:22,0,118:5:1 1/1:212,24,0:8:8
17 3588 . A . . . END=3935 GT 0/0 0/0 0/0
Expand Down
8 changes: 5 additions & 3 deletions test/mpileup.cAls.out
Original file line number Diff line number Diff line change
@@ -1,13 +1,15 @@
##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##samtoolsVersion=1.1-19-g6b249e2+htslib-1.1-74-g845c515
##samtoolsCommand=samtools mpileup -uvDV -b xxx//mpileup.bam.list -f xxx//mpileup.ref.fa.gz
##reference=file://xxx//mpileup.ref.fa.gz
##contig=<ID=17,length=81195210>
##ALT=<ID=X,Description="Represents allele(s) other than observed.">
##INFO=<ID=INDEL,Number=0,Type=Flag,Description="Indicates that the variant is an INDEL.">
##INFO=<ID=IDV,Number=1,Type=Integer,Description="Maximum number of reads supporting an indel">
##INFO=<ID=IMF,Number=1,Type=Float,Description="Maximum fraction of reads supporting an indel">
##INFO=<ID=DP,Number=1,Type=Integer,Description="Raw read depth">
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version=3>
##INFO=<ID=VDB,Number=1,Type=Float,Description="Variant Distance Bias for filtering splice-site artefacts in RNA-seq data (bigger is better)",Version="3">
##INFO=<ID=RPB,Number=1,Type=Float,Description="Mann-Whitney U test of Read Position Bias (bigger is better)">
##INFO=<ID=MQB,Number=1,Type=Float,Description="Mann-Whitney U test of Mapping Quality Bias (bigger is better)">
##INFO=<ID=BQB,Number=1,Type=Float,Description="Mann-Whitney U test of Base Quality Bias (bigger is better)">
Expand All @@ -25,7 +27,7 @@
##INFO=<ID=DP4,Number=4,Type=Integer,Description="Number of high-quality ref-forward , ref-reverse, alt-forward and alt-reverse bases">
##INFO=<ID=MQ,Number=1,Type=Integer,Description="Average mapping quality">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG00100 HG00101 HG00102
17 828 . T C 410 . DP=25;VDB=0.842082;SGB=-4.20907;RPB=0.950652;MQB=1;MQSB=1;BQB=0.929717;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=60 GT:PL:DP:DV 0/1:211,0,35:12:10 0/1:116,0,91:9:5 1/1:120,12,0:4:4
17 1665 . T C 2.37428 . DP=20;VDB=0.1;SGB=0.346553;RPB=0.222222;MQB=0.611111;MQSB=0.988166;BQB=0.944444;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=7,11,1,1;MQ=55 GT:PL:DP:DV 0/0:0,21,185:7:0 0/0:0,27,222:9:0 0/1:35,0,51:4:2
17 828 . T C 409 . DP=25;VDB=0.842082;SGB=-4.20907;RPB=0.950652;MQB=1;MQSB=1;BQB=0.929717;MQ0F=0;ICB=0.8;HOB=0.222222;AC=4;AN=6;DP4=2,4,8,11;MQ=60 GT:PL:DP:DV 0/1:211,0,35:12:10 0/1:116,0,91:9:5 1/1:120,12,0:4:4
17 1665 . T C 3.10665 . DP=20;VDB=0.1;SGB=0.346553;RPB=0.222222;MQB=0.611111;MQSB=0.988166;BQB=0.944444;MQ0F=0;ICB=0.128205;HOB=0.0555556;AC=1;AN=6;DP4=7,11,1,1;MQ=55 GT:PL:DP:DV 0/0:0,21,185:7:0 0/0:0,27,222:9:0 0/1:35,0,51:4:2
17 2220 . G C 999 . DP=21;VDB=0.532753;SGB=-3.51597;RPB=0.964198;MQB=0.898397;MQSB=0.875769;BQB=0.0354359;MQ0F=0;AC=0;AN=6;DP4=6,2,1,11;MQ=58 GT:PL:DP:DV 0/0:139,157,255:12:6 0/0:69,75,119:4:2 0/0:131,131,131:4:4
17 2564 . A AG 999 . DP=15;VDB=0.690812;SGB=-3.20711;RPB=0.197899;MQB=1;MQSB=1;BQB=0.965069;MQ0F=0;AC=0;AN=6;DP4=1,4,4,5;MQ=60 GT:PL:DP:DV 0/0:88,98,171:6:3 0/0:57,63,117:4:2 0/0:124,124,124:4:4
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