## ENSEMBL VARIANT EFFECT PREDICTOR v2.0 ## Output produced at 2011-05-17 13:50:56 ## Connected to homo_sapiens_core_62_37g on localhost ## Using API version 63, DB version 62 ## Extra column keys: ## HGNC : HGNC gene identifier ## ENSP : Ensembl protein identifer ## HGVSc : HGVS coding sequence name ## HGVSp : HGVS protein sequence name ## SIFT : SIFT prediction ## PolyPhen : PolyPhen prediction ## Condel : Condel SIFT/PolyPhen consensus prediction #Uploaded_variation Location Allele Gene Transcript Consequence cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation Extra 7_114302130_C/A 7:114302130 A - ENST00000441290 3_prime_UTR_variant,NMD_transcript_variant 2408 - - - - - - 7_114302130_C/A 7:114302130 C - ENST00000441290 3_prime_UTR_variant,NMD_transcript_variant 2408 - - - - - - 7_114302130_C/A 7:114302130 A - ENST00000393489 non_synonymous_codon 1764 1382 461 R/H cGt/cAt - - 7_114302130_C/A 7:114302130 C - ENST00000393489 non_synonymous_codon 1764 1382 461 R/P cGt/cCt - - 7_114302130_C/A 7:114302130 A - ENST00000393500 3_prime_UTR_variant 2408 - - - - - - 7_114302130_C/A 7:114302130 C - ENST00000393500 3_prime_UTR_variant 2408 - - - - - - 7_114302130_C/A 7:114302130 A - ENST00000408937 non_synonymous_codon 2107 1733 578 R/H cGt/cAt - - 7_114302130_C/A 7:114302130 C - ENST00000408937 non_synonymous_codon 2107 1733 578 R/P cGt/cCt - - 7_114302130_C/A 7:114302130 A - ENST00000412402 3_prime_UTR_variant,NMD_transcript_variant 2026 - - - - - - 7_114302130_C/A 7:114302130 C - ENST00000412402 3_prime_UTR_variant,NMD_transcript_variant 2026 - - - - - - 7_114302130_C/A 7:114302130 A - ENST00000393498 non_synonymous_codon 1902 1589 530 R/H cGt/cAt - - 7_114302130_C/A 7:114302130 C - ENST00000393498 non_synonymous_codon 1902 1589 530 R/P cGt/cCt - - 7_114302130_C/A 7:114302130 A - ENST00000393491 non_synonymous_codon 1103 1103 368 R/H cGt/cAt - - 7_114302130_C/A 7:114302130 C - ENST00000393491 non_synonymous_codon 1103 1103 368 R/P cGt/cCt - - 7_114302130_C/A 7:114302130 A - ENST00000403559 non_synonymous_codon 2083 1709 570 R/H cGt/cAt - - 7_114302130_C/A 7:114302130 C - ENST00000403559 non_synonymous_codon 2083 1709 570 R/P cGt/cCt - - 7_114302130_C/A 7:114302130 A - ENST00000393494 non_synonymous_codon 1937 1658 553 R/H cGt/cAt - - 7_114302130_C/A 7:114302130 C - ENST00000393494 non_synonymous_codon 1937 1658 553 R/P cGt/cCt - - 7_114302130_C/A 7:114302130 A - ENST00000350908 non_synonymous_codon 1974 1658 553 R/H cGt/cAt - - 7_114302130_C/A 7:114302130 C - ENST00000350908 non_synonymous_codon 1974 1658 553 R/P cGt/cCt - -