#Uploaded_variation Location Allele Consequence IMPACT SYMBOL Gene Feature_type Feature BIOTYPE EXON INTRON HGVSc HGVSp cDNA_position CDS_position Protein_position Amino_acids Codons Existing_variation REF_ALLELE UPLOADED_ALLELE DISTANCE STRAND FLAGS SYMBOL_SOURCE HGNC_ID MANE_SELECT MANE_PLUS_CLINICAL TSL APPRIS ENSP REFSEQ_MATCH REFSEQ_OFFSET GIVEN_REF USED_REF BAM_EDIT SIFT PolyPhen HGVS_OFFSET AF gnomADe_AF gnomADe_AFR_AF gnomADe_AMR_AF gnomADe_ASJ_AF gnomADe_EAS_AF gnomADe_FIN_AF gnomADe_NFE_AF gnomADe_OTH_AF gnomADe_SAS_AF CLIN_SIG SOMATIC PHENO PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE TRANSCRIPTION_FACTORS . X:15823107-15823107 AGCCGG downstream_gene_variant MODIFIER AP1S2 8905 Transcript NM_001272071.2 protein_coding - - - - - - - - - rs752736259 - -/AGCCGG 2698 -1 - EntrezGene - ENST00000672987.1 - - - NP_001259000.1 - - - - - - - - - 0.01474 0.05263 0.006327 0.04803 0.0008359 0.02496 0.01226 0.01295 0.003798 - - - - - - - - - . X:15823107-15823107 AGCCGG downstream_gene_variant MODIFIER AP1S2 8905 Transcript NM_003916.5 protein_coding - - - - - - - - - rs752736259 - -/AGCCGG 2698 -1 - EntrezGene - - - - - NP_003907.3 - - - - - - - - - 0.01474 0.05263 0.006327 0.04803 0.0008359 0.02496 0.01226 0.01295 0.003798 - - - - - - - - - . X:15823107-15823107 AGCCGG inframe_insertion MODERATE ZRSR2 8233 Transcript NM_005089.4 protein_coding 11/11 - NM_005089.4:c.1338_1343dup NP_005080.1:p.Ser447_Arg448dup 1326-1327 1314-1315 438-439 -/SR -/AGCCGG rs752736259 - -/AGCCGG - 1 - EntrezGene - ENST00000307771.8 - - - NP_005080.1 - - - - - - - 29 - 0.01474 0.05263 0.006327 0.04803 0.0008359 0.02496 0.01226 0.01295 0.003798 - - - - - - - - - . X:15823107-15823107 AGCCGG inframe_insertion MODERATE ZRSR2 8233 Transcript XM_011545589.4 protein_coding 10/10 - XM_011545589.4:c.1407_1412dup XP_011543891.3:p.Ser470_Arg471dup 6413-6414 1383-1384 461-462 -/SR -/AGCCGG rs752736259 - -/AGCCGG - 1 - EntrezGene - - - - - XP_011543891.3 - - - - - - - 29 - 0.01474 0.05263 0.006327 0.04803 0.0008359 0.02496 0.01226 0.01295 0.003798 - - - - - - - - -