(Sanity check) Too many SNPs?
1
1
Entering edit mode
6.5 years ago
rightmirem ▴ 70

I have an amalgamated BCF file, containing the variant calls from the FULL GENOME of 70 individuals.

I've run the command ...

bcftools view  -i 'TYPE="snp" && AC=140 && GT="hom" && QUAL>20' ./<filename>.bcf | wc -l

This should (and based on the output lines I've looked at - does) respond with any variant calls that are SNPs (only), with only one ALT, where the GT is 1/1 for ALL samples. In other words, every sample (out of 70) has this SNP, in both alleles.

The count I got was 30704...meaning there are 30704 different SNPs that every patient shares.

This seems...unlikely. Is this reasonable?

SAMPLE OUTPUT:

1       792862  .       C       G       228     PASS    VDB=0.413797;SGB=-0.693147;MQSB=0.362809;MQ0F=0;MQ=52;RPB=1;MQB=1;BQB=1;DP=5464;DP4=0,1,2859,2288;AN=140;AC=140 GT:PL   1/1:255,144,0   1/1:255,244,0   1/1:255,129,0   1/1:255,175,0   1/1:255,229,0   1/1:255,235,0   1/1:255,255,0   1/1:255,211,0   1/1:255,255,0   1/1:86,9,0      1/1:255,214,0   1/1:255,223,0   1/1:255,220,0   1/1:255,211,0   1/1:255,205,0   1/1:255,232,0   1/1:255,226,0   1/1:255,157,0   1/1:255,220,0   1/1:255,255,0   1/1:255,255,0   1/1:255,87,0    1/1:255,211,0   1/1:255,247,0   1/1:255,223,0   1/1:255,166,0   1/1:255,220,0   1/1:255,223,0   1/1:255,190,0   1/1:255,172,0   1/1:255,226,0   1/1:255,255,0   1/1:255,255,0   1/1:255,241,0   1/1:255,255,0   1/1:255,255,0   1/1:255,238,0   1/1:255,202,0   1/1:255,138,0   1/1:255,196,0   1/1:255,111,0   1/1:255,226,0   1/1:255,255,0   1/1:255,255,0   1/1:255,255,0   1/1:255,208,0   1/1:255,196,0   1/1:255,250,0   1/1:255,226,0   1/1:255,255,0   1/1:255,255,0   1/1:255,235,0   1/1:255,199,0   1/1:255,255,0   1/1:255,157,0   1/1:255,181,0   1/1:255,220,0   1/1:255,163,0   1/1:255,169,0   1/1:255,255,0   1/1:255,255,0   1/1:161,15,0    1/1:255,255,0   1/1:255,255,0   1/1:255,187,0   1/1:255,190,0   1/1:255,255,0   1/1:255,193,0   1/1:255,255,0   1/1:255,126,0

1       822944  .       T       C       228     PASS    VDB=0.978422;SGB=-0.693147;MQSB=1;MQ0F=0;MQ=60;RPB=1;MQB=1;BQB=1;DP=4660;DP4=1,2,2178,2254;AN=140;AC=140        GT:PL   1/1:255,135,0   1/1:255,181,0   1/1:255,90,0    1/1:255,220,0   1/1:255,114,0   1/1:255,169,0   1/1:255,187,0   1/1:255,129,0   1/1:255,144,0   1/1:61,6,0      1/1:255,232,0   1/1:255,160,0   1/1:255,193,0   1/1:255,247,0   1/1:255,169,0   1/1:255,247,0   1/1:255,151,0   1/1:255,99,0    1/1:255,255,0   1/1:255,255,0   1/1:255,255,0   1/1:255,57,0    1/1:255,177,0   1/1:255,250,0   1/1:255,255,0   1/1:255,105,0   1/1:255,220,0   1/1:255,255,0   1/1:255,163,0   1/1:255,169,0   1/1:255,172,0   1/1:255,144,0   1/1:255,255,0   1/1:255,172,0   1/1:255,255,0   1/1:255,235,0   1/1:255,196,0   1/1:255,202,0   1/1:255,190,0   1/1:255,211,0   1/1:255,66,0    1/1:255,214,0   1/1:255,232,0   1/1:255,190,0   1/1:255,123,0   1/1:255,157,0   1/1:255,144,0   1/1:255,178,0   1/1:255,255,0   1/1:255,247,0   1/1:255,255,0   1/1:255,253,0   1/1:255,220,0   1/1:255,250,0   1/1:255,175,0   1/1:255,175,0   1/1:255,132,0   1/1:255,166,0   1/1:255,229,0   1/1:255,255,0   1/1:255,255,0   1/1:55,6,0      1/1:255,169,0   1/1:255,255,0   1/1:255,229,0   1/1:255,157,0   1/1:255,184,0   1/1:255,108,0   1/1:255,241,0   1/1:255,120,0

1       839356  .       A       C       228     PASS    VDB=0.209904;SGB=-0.692976;MQSB=1;MQ0F=0;MQ=60;RPB=1;MQB=1;BQB=1;DP=2889;DP4=1,0,1441,1171;AN=140;AC=140        GT:PL   1/1:255,78,0    1/1:255,66,0    1/1:255,39,0    1/1:255,141,0   1/1:255,151,0   1/1:255,138,0   1/1:255,102,0   1/1:255,69,0    1/1:255,84,0    1/1:65,6,0      1/1:255,120,0   1/1:255,87,0    1/1:255,81,0    1/1:255,117,0   1/1:255,90,0    1/1:255,129,0   1/1:255,129,0   1/1:255,102,0   1/1:255,126,0   1/1:255,123,0   1/1:255,96,0    1/1:255,69,0    1/1:255,169,0   1/1:255,153,0   1/1:255,144,0   1/1:255,90,0    1/1:255,96,0    1/1:255,141,0   1/1:255,111,0   1/1:255,87,0    1/1:255,105,0   1/1:255,102,0   1/1:255,160,0   1/1:255,117,0   1/1:255,141,0   1/1:255,135,0   1/1:255,96,0    1/1:255,157,0   1/1:255,117,0   1/1:255,111,0   1/1:255,78,0    1/1:255,111,0   1/1:255,144,0   1/1:255,102,0   1/1:255,42,0    1/1:255,117,0   1/1:255,69,0    1/1:255,135,0   1/1:255,129,0   1/1:255,129,0   1/1:255,141,0   1/1:255,99,0    1/1:255,126,0   1/1:255,123,0   1/1:255,117,0   1/1:255,111,0   1/1:255,151,0   1/1:255,172,0   1/1:255,132,0   1/1:255,135,0   1/1:255,126,0   1/1:83,9,0      1/1:255,111,0   1/1:255,187,0   1/1:255,111,0   1/1:255,99,0    1/1:255,108,0   1/1:255,72,0    1/1:255,138,0   1/1:255,126,0
next-gen variant filter • 1.6k views
ADD COMMENT
5
Entering edit mode
6.5 years ago
pfs ▴ 280

The ALT and REF SNPs do not always correspond to the Major/Minor allele at a SNP position. Thus, in some cases the major allele = ALT allele. This could be driving the numbers you are seeing. The other thing that could be driving these numbers is if al 70 patients are of similar ethnicity. I would recommend looking at the raw reads for a handful of patients at a handful oh these 1/1 SNPs and confirming the SNP characterization.

ADD COMMENT

Login before adding your answer.

Traffic: 1971 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6