1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 65 66 67 68 69 70 71 72 73
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##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=17,length=4200>
##ALT=<ID=*,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 raw reads supporting an indel">
##INFO=<ID=IMF,Number=1,Type=Float,Description="Maximum fraction of raw 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=RPBZ,Number=1,Type=Float,Description="Mann-Whitney U-z test of Read Position Bias (closer to 0 is better)">
##INFO=<ID=MQBZ,Number=1,Type=Float,Description="Mann-Whitney U-z test of Mapping Quality Bias (closer to 0 is better)">
##INFO=<ID=BQBZ,Number=1,Type=Float,Description="Mann-Whitney U-z test of Base Quality Bias (closer to 0 is better)">
##INFO=<ID=MQSBZ,Number=1,Type=Float,Description="Mann-Whitney U-z test of Mapping Quality vs Strand Bias (closer to 0 is better)">
##INFO=<ID=NMBZ,Number=1,Type=Float,Description="Mann-Whitney U-z test of Number of Mismatches within supporting reads (closer to 0 is better)">
##INFO=<ID=SCBZ,Number=1,Type=Float,Description="Mann-Whitney U-z test of Soft-Clip Length Bias (closer to 0 is better)">
##INFO=<ID=FS,Number=1,Type=Float,Description="Phred-scaled p-value using Fisher's exact test to detect strand bias">
##INFO=<ID=SGB,Number=1,Type=Float,Description="Segregation based metric.">
##INFO=<ID=MQ0F,Number=1,Type=Float,Description="Fraction of MQ0 reads (smaller is better)">
##INFO=<ID=I16,Number=16,Type=Float,Description="Auxiliary tag used for calling, see description of bcf_callret1_t in bam2bcf.h">
##INFO=<ID=QS,Number=R,Type=Float,Description="Auxiliary tag used for calling">
##FORMAT=<ID=PL,Number=G,Type=Integer,Description="List of Phred-scaled genotype likelihoods">
#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT HG00100 HG00101 HG00102
17 100 . C <*> 0 . DP=18;I16=16,1,0,0,672,27586,0,0,958,55682,0,0,332,7446,0,0;QS=3,0;MQ0F=0 PL 0,27,189 0,9,118 0,15,134
17 101 . C <*> 0 . DP=18;I16=16,1,0,0,630,24730,0,0,958,55682,0,0,331,7303,0,0;QS=3,0;MQ0F=0 PL 0,27,182 0,9,108 0,15,132
17 102 . C <*> 0 . DP=18;I16=16,1,0,0,676,27812,0,0,958,55682,0,0,330,7178,0,0;QS=3,0;MQ0F=0 PL 0,27,188 0,9,121 0,15,139
17 103 . T C,<*> 0 . DP=18;I16=15,1,1,0,668,28542,6,36,929,54841,29,841,323,7035,6,36;QS=2.98256,0.0174419,0;SGB=-0.556633;RPBZ=-1.02125;MQBZ=-2.73861;MQSBZ=0.365148;BQBZ=-1.64924;NMBZ=2.45514;SCBZ=4;FS=0;MQ0F=0 PL 0,17,184,24,187,185 0,9,118,9,118,118 0,15,147,15,147,147
17 104 . G C,<*> 0 . DP=18;I16=15,1,1,0,601,24163,3,9,929,54841,29,841,320,6884,7,49;QS=2.98726,0.0127389,0;SGB=-0.556633;RPBZ=-1.02125;MQBZ=-2.73861;MQSBZ=0.365148;BQBZ=-1.64309;NMBZ=2.45514;SCBZ=2.91548;FS=0;MQ0F=0 PL 0,18,173,24,176,173 0,9,101,9,101,101 0,15,133,15,133,133
17 105 . G <*> 0 . DP=19;I16=17,1,0,0,603,22351,0,0,1018,59282,0,0,325,6815,0,0;QS=3,0;MQ0F=0 PL 0,30,171 0,9,106 0,15,125
17 106 . G <*> 0 . DP=19;I16=17,1,0,0,636,25058,0,0,1018,59282,0,0,324,6718,0,0;QS=3,0;MQ0F=0 PL 0,30,190 0,9,92 0,15,124
17 107 . C <*> 0 . DP=19;I16=17,1,0,0,686,27952,0,0,1018,59282,0,0,323,6643,0,0;QS=3,0;MQ0F=0 PL 0,30,192 0,9,119 0,15,136
17 108 . C <*> 0 . DP=19;I16=17,1,0,0,681,27429,0,0,1018,59282,0,0,322,6590,0,0;QS=3,0;MQ0F=0 PL 0,30,190 0,9,119 0,15,135
17 109 . T C,<*> 0 . DP=19;I16=16,1,1,0,716,30648,2,4,989,58441,29,841,309,6415,12,144;QS=2.98922,0.0107817,0;SGB=-0.556633;RPBZ=-0.674966;MQBZ=-2.82843;MQSBZ=0.353553;BQBZ=-1.6661;NMBZ=2.52179;SCBZ=3;FS=0;MQ0F=0 PL 0,20,191,27,194,191 0,9,120,9,120,120 0,15,150,15,150,150
17 110 . G <*> 0 . DP=19;I16=17,1,0,0,688,28036,0,0,1018,59282,0,0,320,6550,0,0;QS=3,0;MQ0F=0 PL 0,30,194 0,9,113 0,15,136
17 111 . G <*> 0 . DP=19;I16=17,1,0,0,573,21453,0,0,1018,59282,0,0,318,6514,0,0;QS=3,0;MQ0F=0 PL 0,30,167 0,9,95 0,15,119
17 112 . C G,<*> 0 . DP=19;I16=16,1,1,0,657,26565,2,4,989,58441,29,841,301,6277,15,225;QS=2.98907,0.010929,0;SGB=-0.556633;RPBZ=-0.482118;MQBZ=-2.82843;MQSBZ=0.353553;BQBZ=-1.65292;NMBZ=2.52179;SCBZ=3;FS=0;MQ0F=0 PL 0,20,187,27,190,187 0,9,103,9,103,103 0,15,135,15,135,135
17 113 . A G,<*> 0 . DP=19;I16=16,1,1,0,635,25055,4,16,989,58441,29,841,297,6207,16,256;QS=2.98817,0.0118343,0;SGB=-0.556633;RPBZ=-0.482118;MQBZ=-2.82843;MQSBZ=0.353553;BQBZ=-1.65205;NMBZ=2.52179;SCBZ=3;FS=0;MQ0F=0 PL 0,20,172,27,175,172 0,9,102,9,102,102 0,15,139,15,139,139
17 114 . C <*> 0 . DP=19;I16=17,1,0,0,660,25876,0,0,1018,59282,0,0,310,6446,0,0;QS=3,0;MQ0F=0 PL 0,30,181 0,9,113 0,15,133
17 115 . C A,<*> 0 . DP=21;I16=17,2,1,0,688,27426,12,144,1078,62882,29,841,283,5827,25,625;QS=2.88785,0.11215,0;SGB=-0.556633;RPBZ=0.260329;MQBZ=-2.38048;MQSBZ=-1.42419;BQBZ=-1.47798;NMBZ=2.3712;SCBZ=-0.418446;FS=0;MQ0F=0 PL 0,30,189,30,189,189 3,0,86,9,89,93 0,21,153,21,153,153
17 116 . A C,<*> 0 . DP=21;I16=17,2,1,0,705,27791,2,4,1078,62882,29,841,287,6073,19,361;QS=2.98873,0.0112676,0;SGB=-0.556633;RPBZ=0.0867763;MQBZ=-2.38048;MQSBZ=-1.42419;BQBZ=-1.65814;NMBZ=2.65016;SCBZ=2.65016;FS=0;MQ0F=0 PL 0,20,179,27,182,179 0,9,102,9,102,102 0,21,175,21,175,175
17 117 . G <*> 0 . DP=21;I16=18,2,0,0,715,28045,0,0,1107,63723,0,0,304,6444,0,0;QS=3,0;MQ0F=0 PL 0,30,185 0,9,97 0,21,177
17 118 . G <*> 0 . DP=20;I16=17,2,0,0,620,23470,0,0,1047,60123,0,0,303,6481,0,0;QS=3,0;MQ0F=0 PL 0,27,175 0,9,65 0,21,162
17 119 . G <*> 0 . DP=19;I16=16,2,0,0,619,23459,0,0,987,56523,0,0,301,6493,0,0;QS=3,0;MQ0F=0 PL 0,27,176 0,6,76 0,21,160
17 120 . A G,<*> 0 . DP=19;I16=15,2,1,0,646,25392,4,16,958,55682,29,841,277,5999,23,529;QS=2.9873,0.0126984,0;SGB=-0.556633;RPBZ=0.28942;MQBZ=-2.23607;MQSBZ=-1.30384;BQBZ=-1.6486;NMBZ=3;SCBZ=3;FS=0;MQ0F=0 PL 0,18,171,24,174,171 0,6,88,6,88,88 0,21,171,21,171,171
17 121 . G <*> 0 . DP=19;I16=16,2,0,0,650,25148,0,0,987,56523,0,0,298,6534,0,0;QS=3,0;MQ0F=0 PL 0,27,181 0,6,84 0,21,168
17 122 . C <*> 0 . DP=20;I16=17,2,0,0,696,27784,0,0,1047,60123,0,0,296,6560,0,0;QS=3,0;MQ0F=0 PL 0,27,180 0,9,107 0,21,178
17 123 . T <*> 0 . DP=18;I16=15,2,0,0,647,26145,0,0,927,52923,0,0,296,6554,0,0;QS=3,0;MQ0F=0 PL 0,24,170 0,9,123 0,18,166
17 124 . T <*> 0 . DP=19;I16=16,2,0,0,606,22002,0,0,987,56523,0,0,296,6564,0,0;QS=3,0;MQ0F=0 PL 0,27,154 0,9,114 0,18,154
17 125 . A T,<*> 0 . DP=18;I16=14,2,1,0,589,22565,4,16,898,52082,29,841,272,5916,25,625;QS=2.98444,0.0155642,0;SGB=-0.556633;RPBZ=1.02125;MQBZ=-2.16025;MQSBZ=-1.23956;BQBZ=-1.64106;NMBZ=2.91548;SCBZ=2.91548;FS=0;MQ0F=0 PL 0,15,149,21,152,149 0,9,114,9,114,114 0,18,162,18,162,162
17 126 . A <*> 0 . DP=18;I16=15,2,0,0,629,24725,0,0,927,52923,0,0,298,6536,0,0;QS=3,0;MQ0F=0 PL 0,24,162 0,9,117 0,18,174
17 127 . C <*> 0 . DP=18;I16=15,2,0,0,627,24331,0,0,927,52923,0,0,299,6549,0,0;QS=3,0;MQ0F=0 PL 0,24,163 0,9,119 0,18,160
17 128 . A <*> 0 . DP=18;I16=15,2,0,0,660,26364,0,0,927,52923,0,0,300,6580,0,0;QS=3,0;MQ0F=0 PL 0,24,169 0,9,121 0,18,168
17 129 . A <*> 0 . DP=17;I16=14,2,0,0,627,25407,0,0,867,49323,0,0,302,6628,0,0;QS=3,0;MQ0F=0 PL 0,24,168 0,9,124 0,15,159
17 130 . A <*> 0 . DP=17;I16=14,2,0,0,627,25419,0,0,867,49323,0,0,304,6692,0,0;QS=3,0;MQ0F=0 PL 0,24,169 0,9,124 0,15,152
17 131 . C <*> 0 . DP=16;I16=13,2,0,0,593,24003,0,0,838,48482,0,0,280,6096,0,0;QS=3,0;MQ0F=0 PL 0,21,167 0,9,120 0,15,147
17 132 . A <*> 0 . DP=16;I16=13,2,0,0,610,25250,0,0,838,48482,0,0,281,6139,0,0;QS=3,0;MQ0F=0 PL 0,21,169 0,9,120 0,15,151
17 133 . T <*> 0 . DP=15;I16=13,2,0,0,584,22816,0,0,838,48482,0,0,282,6196,0,0;QS=3,0;MQ0F=0 PL 0,21,163 0,9,105 0,15,150
17 134 . C <*> 0 . DP=15;I16=13,2,0,0,607,24653,0,0,838,48482,0,0,283,6267,0,0;QS=3,0;MQ0F=0 PL 0,21,177 0,9,105 0,15,152
17 135 . T <*> 0 . DP=15;I16=13,2,0,0,605,24553,0,0,838,48482,0,0,284,6352,0,0;QS=3,0;MQ0F=0 PL 0,21,173 0,9,106 0,15,159
17 136 . G <*> 0 . DP=15;I16=13,2,0,0,574,22258,0,0,838,48482,0,0,286,6450,0,0;QS=3,0;MQ0F=0 PL 0,21,172 0,9,105 0,15,134
17 137 . T <*> 0 . DP=15;I16=13,2,0,0,563,21377,0,0,838,48482,0,0,289,6561,0,0;QS=3,0;MQ0F=0 PL 0,21,160 0,9,104 0,15,139
17 138 . C <*> 0 . DP=15;I16=13,2,0,0,584,23088,0,0,838,48482,0,0,291,6637,0,0;QS=3,0;MQ0F=0 PL 0,21,172 0,9,108 0,15,142
17 139 . C <*> 0 . DP=15;I16=13,2,0,0,554,20790,0,0,838,48482,0,0,292,6680,0,0;QS=3,0;MQ0F=0 PL 0,21,161 0,9,106 0,15,143
17 140 . A <*> 0 . DP=15;I16=13,2,0,0,583,22789,0,0,838,48482,0,0,292,6690,0,0;QS=3,0;MQ0F=0 PL 0,21,163 0,9,107 0,15,153
17 141 . G <*> 0 . DP=14;I16=12,2,0,0,534,20750,0,0,778,44882,0,0,292,6664,0,0;QS=3,0;MQ0F=0 PL 0,18,158 0,9,108 0,15,142
17 142 . C <*> 0 . DP=14;I16=12,2,0,0,503,18593,0,0,778,44882,0,0,292,6650,0,0;QS=3,0;MQ0F=0 PL 0,18,157 0,9,97 0,15,129
17 143 . G <*> 0 . DP=14;I16=12,2,0,0,426,13778,0,0,778,44882,0,0,292,6648,0,0;QS=3,0;MQ0F=0 PL 0,18,128 0,9,95 0,15,102
17 144 . A <*> 0 . DP=14;I16=12,2,0,0,519,19725,0,0,778,44882,0,0,291,6609,0,0;QS=3,0;MQ0F=0 PL 0,18,152 0,9,105 0,15,129
17 145 . A <*> 0 . DP=14;I16=12,2,0,0,527,20289,0,0,778,44882,0,0,290,6584,0,0;QS=3,0;MQ0F=0 PL 0,18,153 0,9,106 0,15,138
17 146 . T <*> 0 . DP=14;I16=12,2,0,0,514,19484,0,0,778,44882,0,0,289,6573,0,0;QS=3,0;MQ0F=0 PL 0,18,152 0,9,103 0,15,128
17 147 . A <*> 0 . DP=14;I16=12,2,0,0,515,19213,0,0,778,44882,0,0,288,6576,0,0;QS=3,0;MQ0F=0 PL 0,18,150 0,9,99 0,15,140
17 148 . C <*> 0 . DP=14;I16=12,2,0,0,541,21019,0,0,778,44882,0,0,286,6542,0,0;QS=3,0;MQ0F=0 PL 0,18,157 0,9,106 0,15,146
17 149 . C <*> 0 . DP=14;I16=12,2,0,0,512,19326,0,0,778,44882,0,0,283,6471,0,0;QS=3,0;MQ0F=0 PL 0,18,148 0,9,109 0,15,140
17 150 . T <*> 0 . DP=13;I16=11,2,0,0,511,20251,0,0,749,44041,0,0,280,6362,0,0;QS=3,0;MQ0F=0 PL 0,18,153 0,6,84 0,15,152
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