## ENSEMBL VARIANT EFFECT PREDICTOR v84 ## Output produced at 2017-04-01 16:42:30 ## Using cache in /home/input1//homo_sapiens/84_GRCh38 ## Using API version 84, DB version ? ## polyphen version 2.2.2 ## sift version sift5.2.2 ## COSMIC version 75 ## ESP version 20141103 ## gencode version GENCODE 24 ## HGMD-PUBLIC version 20154 ## genebuild version 2014-07 ## regbuild version 13.0 ## assembly version GRCh38.p5 ## dbSNP version 146 ## ClinVar version 201601 ## Extra column keys: ## IMPACT : Subjective impact classification of consequence type ## DISTANCE : Shortest distance from variant to transcript ## STRAND : Strand of the feature (1/-1) ## FLAGS : Transcript quality flags ## SYMBOL : Gene symbol (e.g. HGNC) ## SYMBOL_SOURCE : Source of gene symbol ## HGNC_ID : Stable identifer of HGNC gene symbol ## ENSP : Protein identifer ## SWISSPROT : UniProtKB/Swiss-Prot identifier ## TREMBL : UniProtKB/TrEMBL identifier ## UNIPARC : UniParc identifier #Uploaded_variation Location Allele Gene Feature Feature_type Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation Extra Sample 15:43401738 C ENSG00000137822 ENST00000260383 Transcript missense_variant 1876 1622 541 F/S tTc/tCc - IMPACT=MODERATE;STRAND=1;SYMBOL=TUBGCP4;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:16691;ENSP=ENSP00000260383;SWISSPROT=Q9UGJ1;UNIPARC=UPI000012B2EC Sample 16:32253489 A ENSG00000205456 ENST00000398664 Transcript missense_variant 771 136 46 A/T Gcc/Acc - IMPACT=MODERATE;STRAND=1;SYMBOL=TP53TG3D;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:44657;ENSP=ENSP00000455596;SWISSPROT=Q9ULZ0;UNIPARC=UPI000006D8DD Sample 17:7674218 C ENSG00000141510 ENST00000269305 Transcript missense_variant 935 745 249 R/G Agg/Ggg - IMPACT=MODERATE;STRAND=-1;SYMBOL=TP53;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;ENSP=ENSP00000269305;SWISSPROT=P04637;TREMBL=K7PPA8;UNIPARC=UPI000002ED67 Sample 17:7674221 A ENSG00000141510 ENST00000269305 Transcript missense_variant 932 742 248 R/W Cgg/Tgg - IMPACT=MODERATE;STRAND=-1;SYMBOL=TP53;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:11998;ENSP=ENSP00000269305;SWISSPROT=P04637;TREMBL=K7PPA8;UNIPARC=UPI000002ED67 Sample 20:34715353 A ENSG00000198646 ENST00000374796 Transcript missense_variant 8732 6161 2054 A/V gCg/gTg - IMPACT=MODERATE;STRAND=-1;SYMBOL=NCOA6;SYMBOL_SOURCE=HGNC;HGNC_ID=HGNC:15936;ENSP=ENSP00000363929;SWISSPROT=Q14686;UNIPARC=UPI000013C634