#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 DISTANCE STRAND FLAGS SYMBOL_SOURCE HGNC_ID MANE_SELECT MANE_PLUS_CLINICAL TSL APPRIS ENSP SWISSPROT TREMBL UNIPARC UNIPROT_ISOFORM REFSEQ_MATCH SOURCE REFSEQ_OFFSET GIVEN_REF USED_REF BAM_EDIT SIFT PolyPhen DOMAINS HGVS_OFFSET AF CLIN_SIG SOMATIC PHENO PUBMED MOTIF_NAME MOTIF_POS HIGH_INF_POS MOTIF_SCORE_CHANGE TRANSCRIPTION_FACTORS PHENOTYPES miRNA clinvar_Orphanet_id Condel . NC_012920.1:239-239 C upstream_gene_variant MODIFIER MT-TF ENSG00000210049 Transcript ENST00000387314.1 Mt_tRNA - - - - - - - - - rs879149197 338 1 - HGNC HGNC:7481 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:239-239 C upstream_gene_variant MODIFIER MT-RNR1 ENSG00000211459 Transcript ENST00000389680.2 Mt_rRNA - - - - - - - - - rs879149197 409 1 - HGNC HGNC:7470 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:263-263 G upstream_gene_variant MODIFIER MT-TF ENSG00000210049 Transcript ENST00000387314.1 Mt_tRNA - - - - - - - - - rs2853515 314 1 - HGNC HGNC:7481 - - - - - - - - - - Ensembl - A A - - - - - - not_provided - 1 22723804 - - - - - - - - - . NC_012920.1:263-263 G upstream_gene_variant MODIFIER MT-RNR1 ENSG00000211459 Transcript ENST00000389680.2 Mt_rRNA - - - - - - - - - rs2853515 385 1 - HGNC HGNC:7470 - - - - - - - - - - Ensembl - A A - - - - - - not_provided - 1 22723804 - - - - - - - - - . NC_012920.1:310-310 TC upstream_gene_variant MODIFIER MT-TF ENSG00000210049 Transcript ENST00000387314.1 Mt_tRNA - - - - - - - - - rs369786048 267 1 - HGNC HGNC:7481 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:310-310 C upstream_gene_variant MODIFIER MT-TF ENSG00000210049 Transcript ENST00000387314.1 Mt_tRNA - - - - - - - - - rs1556422421 267 1 - HGNC HGNC:7481 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:310-310 TC upstream_gene_variant MODIFIER MT-RNR1 ENSG00000211459 Transcript ENST00000389680.2 Mt_rRNA - - - - - - - - - rs369786048 338 1 - HGNC HGNC:7470 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:310-310 C upstream_gene_variant MODIFIER MT-RNR1 ENSG00000211459 Transcript ENST00000389680.2 Mt_rRNA - - - - - - - - - rs1556422421 338 1 - HGNC HGNC:7470 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:750-750 G downstream_gene_variant MODIFIER MT-TF ENSG00000210049 Transcript ENST00000387314.1 Mt_tRNA - - - - - - - - - rs2853518 103 1 - HGNC HGNC:7481 - - - - - - - - - - Ensembl - A A - - - - - - not_provided - 1 - - - - - - - - - - . NC_012920.1:750-750 G non_coding_transcript_exon_variant MODIFIER MT-RNR1 ENSG00000211459 Transcript ENST00000389680.2 Mt_rRNA 1/1 - ENST00000389680.2:n.103A>G - 103 - - - - rs2853518 - 1 - HGNC HGNC:7470 - - - - - - - - - - Ensembl - A A - - - - - - not_provided - 1 - - - - - - - - - - . NC_012920.1:1438-1438 G upstream_gene_variant MODIFIER MT-TV ENSG00000210077 Transcript ENST00000387342.1 Mt_tRNA - - - - - - - - - rs2001030 164 1 - HGNC HGNC:7500 - - - - - - - - - - Ensembl - A A - - - - - - not_provided,benign - 1 24033266,9519725,18830133 - - - - - - - - - . NC_012920.1:1438-1438 G upstream_gene_variant MODIFIER MT-RNR2 ENSG00000210082 Transcript ENST00000387347.2 Mt_rRNA - - - - - - - - - rs2001030 233 1 - HGNC HGNC:7471 - - - - - - - - - - Ensembl - A A - - - - - - not_provided,benign - 1 24033266,9519725,18830133 - - - - - - - - - . NC_012920.1:1438-1438 G non_coding_transcript_exon_variant MODIFIER MT-RNR1 ENSG00000211459 Transcript ENST00000389680.2 Mt_rRNA 1/1 - ENST00000389680.2:n.791A>G - 791 - - - - rs2001030 - 1 - HGNC HGNC:7470 - - - - - - - - - - Ensembl - A A - - - - - - not_provided,benign - 1 24033266,9519725,18830133 - - - - - - - - - . NC_012920.1:3915-3915 A synonymous_variant LOW MT-ND1 ENSG00000198888 Transcript ENST00000361390.2 protein_coding 1/1 - ENST00000361390.2:c.609G>A ENSP00000354687.2:p.Gly203%3D 609 609 203 G ggG/ggA rs41524046,COSV62293499 - 1 - HGNC HGNC:7455 - - - P1 ENSP00000354687 P03886.197 U5Z754.72 UPI0000000AA1 - - Ensembl - G G - - - PDB-ENSP_mappings:5xtc.s,PDB-ENSP_mappings:5xtd.s,HAMAP:MF_01350,PANTHER:PTHR11432,PANTHER:PTHR11432:SF3,PROSITE_patterns:PS00668,Pfam:PF00146 - - benign 0,1 1,1 - - - - - - - - - - . NC_012920.1:3915-3915 A upstream_gene_variant MODIFIER MT-TI ENSG00000210100 Transcript ENST00000387365.1 Mt_tRNA - - - - - - - - - rs41524046,COSV62293499 348 1 - HGNC HGNC:7488 - - - - - - - - - - Ensembl - G G - - - - - - benign 0,1 1,1 - - - - - - - - - - . NC_012920.1:3915-3915 A downstream_gene_variant MODIFIER MT-TQ ENSG00000210107 Transcript ENST00000387372.1 Mt_tRNA - - - - - - - - - rs41524046,COSV62293499 414 -1 - HGNC HGNC:7495 - - - - - - - - - - Ensembl - G G - - - - - - benign 0,1 1,1 - - - - - - - - - - . NC_012920.1:3915-3915 A upstream_gene_variant MODIFIER MT-TM ENSG00000210112 Transcript ENST00000387377.1 Mt_tRNA - - - - - - - - - rs41524046,COSV62293499 487 1 - HGNC HGNC:7492 - - - - - - - - - - Ensembl - G G - - - - - - benign 0,1 1,1 - - - - - - - - - - . NC_012920.1:4727-4727 G downstream_gene_variant MODIFIER MT-ND1 ENSG00000198888 Transcript ENST00000361390.2 protein_coding - - - - - - - - - rs1556422891 465 1 - HGNC HGNC:7455 - - - P1 ENSP00000354687 P03886.197 U5Z754.72 UPI0000000AA1 - - Ensembl - A A - - - - - - - - - - - - - - - - - - - . NC_012920.1:4727-4727 G synonymous_variant LOW MT-ND2 ENSG00000198763 Transcript ENST00000361453.3 protein_coding 1/1 - ENST00000361453.3:c.258A>G ENSP00000355046.4:p.Met86%3D 258 258 86 M atA/atG rs1556422891 - 1 - HGNC HGNC:7456 - - - P1 ENSP00000355046 P03891.192 Q7GXY9.204,A0A1X7RBG6.5 UPI0000000AA2 - - Ensembl - A A - - - PDB-ENSP_mappings:5xtc.i,PDB-ENSP_mappings:5xtd.i,PDB-ENSP_mappings:5xth.i,PDB-ENSP_mappings:5xti.Bi,PDB-ENSP_mappings:5xti.i,PANTHER:PTHR46552,Pfam:PF00361 - - - - - - - - - - - - - - - . NC_012920.1:4727-4727 G downstream_gene_variant MODIFIER MT-TI ENSG00000210100 Transcript ENST00000387365.1 Mt_tRNA - - - - - - - - - rs1556422891 396 1 - HGNC HGNC:7488 - - - - - - - - - - Ensembl - A A - - - - - - - - - - - - - - - - - - - . NC_012920.1:4727-4727 G upstream_gene_variant MODIFIER MT-TQ ENSG00000210107 Transcript ENST00000387372.1 Mt_tRNA - - - - - - - - - rs1556422891 327 -1 - HGNC HGNC:7495 - - - - - - - - - - Ensembl - A A - - - - - - - - - - - - - - - - - - - . NC_012920.1:4727-4727 G downstream_gene_variant MODIFIER MT-TM ENSG00000210112 Transcript ENST00000387377.1 Mt_tRNA - - - - - - - - - rs1556422891 258 1 - HGNC HGNC:7492 - - - - - - - - - - Ensembl - A A - - - - - - - - - - - - - - - - - - - . NC_012920.1:4769-4769 G synonymous_variant LOW MT-ND2 ENSG00000198763 Transcript ENST00000361453.3 protein_coding 1/1 - ENST00000361453.3:c.300A>G ENSP00000355046.4:p.Met100%3D 300 300 100 M atA/atG rs3021086 - 1 - HGNC HGNC:7456 - - - P1 ENSP00000355046 P03891.192 Q7GXY9.204,A0A1X7RBG6.5 UPI0000000AA2 - - Ensembl - A A - - - PDB-ENSP_mappings:5xtc.i,PDB-ENSP_mappings:5xtd.i,PDB-ENSP_mappings:5xth.i,PDB-ENSP_mappings:5xti.Bi,PDB-ENSP_mappings:5xti.i,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PANTHER:PTHR46552,Pfam:PF00361 - - not_provided - 1 - - - - - - - - - - . NC_012920.1:4769-4769 G downstream_gene_variant MODIFIER MT-TI ENSG00000210100 Transcript ENST00000387365.1 Mt_tRNA - - - - - - - - - rs3021086 438 1 - HGNC HGNC:7488 - - - - - - - - - - Ensembl - A A - - - - - - not_provided - 1 - - - - - - - - - - . NC_012920.1:4769-4769 G upstream_gene_variant MODIFIER MT-TQ ENSG00000210107 Transcript ENST00000387372.1 Mt_tRNA - - - - - - - - - rs3021086 369 -1 - HGNC HGNC:7495 - - - - - - - - - - Ensembl - A A - - - - - - not_provided - 1 - - - - - - - - - - . NC_012920.1:4769-4769 G downstream_gene_variant MODIFIER MT-TM ENSG00000210112 Transcript ENST00000387377.1 Mt_tRNA - - - - - - - - - rs3021086 300 1 - HGNC HGNC:7492 - - - - - - - - - - Ensembl - A A - - - - - - not_provided - 1 - - - - - - - - - - . NC_012920.1:8860-8860 G downstream_gene_variant MODIFIER MT-ATP8 ENSG00000228253 Transcript ENST00000361851.1 protein_coding - - - - - - - - - rs2001031 288 1 - HGNC HGNC:7415 - - - P1 ENSP00000355265 P03928.184 U5YV54.72,A0A1X7RCP4.5 UPI0000000AA5 - - Ensembl - A A - - - - - - benign - 1 - - - - - - - - - - . NC_012920.1:8860-8860 G missense_variant MODERATE MT-ATP6 ENSG00000198899 Transcript ENST00000361899.2 protein_coding 1/1 - ENST00000361899.2:c.334A>G ENSP00000354632.2:p.Thr112Ala 334 334 112 T/A Aca/Gca rs2001031 - 1 - HGNC HGNC:7414 - - - P1 ENSP00000354632 P00846.200 Q0ZFE3.143 UPI0000001709 - - Ensembl - A A - tolerated(0.1) benign(0.003) Transmembrane_helices:TMhelix,CDD:cd00310,PANTHER:PTHR11410,PANTHER:PTHR11410:SF0,Gene3D:1.20.120.220,Pfam:PF00119,TIGRFAM:TIGR01131,Superfamily:SSF81336 - - benign - 1 - - - - - - - - - neutral . NC_012920.1:8860-8860 G upstream_gene_variant MODIFIER MT-CO3 ENSG00000198938 Transcript ENST00000362079.2 protein_coding - - - - - - - - - rs2001031 347 1 - HGNC HGNC:7422 - - - P1 ENSP00000354982 P00414.192 Q7GIM7.192,A0A1X7RBF0.5 UPI0000000369 - - Ensembl - A A - - - - - - benign - 1 - - - - - - - - - - . NC_012920.1:8860-8860 G downstream_gene_variant MODIFIER MT-TK ENSG00000210156 Transcript ENST00000387421.1 Mt_tRNA - - - - - - - - - rs2001031 496 1 - HGNC HGNC:7489 - - - - - - - - - - Ensembl - A A - - - - - - benign - 1 - - - - - - - - - - . NC_012920.1:9380-9380 A downstream_gene_variant MODIFIER MT-ATP6 ENSG00000198899 Transcript ENST00000361899.2 protein_coding - - - - - - - - - rs878923250,COSV104668806 173 1 - HGNC HGNC:7414 - - - P1 ENSP00000354632 P00846.200 Q0ZFE3.143 UPI0000001709 - - Ensembl - G G - - - - - - - 0,1 0,1 - - - - - - - - - - . NC_012920.1:9380-9380 A synonymous_variant LOW MT-CO3 ENSG00000198938 Transcript ENST00000362079.2 protein_coding 1/1 - ENST00000362079.2:c.174G>A ENSP00000354982.2:p.Trp58%3D 174 174 58 W tgG/tgA rs878923250,COSV104668806 - 1 - HGNC HGNC:7422 - - - P1 ENSP00000354982 P00414.192 Q7GIM7.192,A0A1X7RBF0.5 UPI0000000369 - - Ensembl - G G - - - PDB-ENSP_mappings:5z62.C,Transmembrane_helices:TMhelix,PROSITE_profiles:PS50253,CDD:cd01665,PANTHER:PTHR11403,PANTHER:PTHR11403:SF7,Gene3D:1.10.287.70,Pfam:PF00510,Superfamily:SSF81452 - - - 0,1 0,1 - - - - - - - - - - . NC_012920.1:11253-11253 C downstream_gene_variant MODIFIER MT-ND4L ENSG00000212907 Transcript ENST00000361335.1 protein_coding - - - - - - - - - rs200145866,COSV62294075 487 1 - HGNC HGNC:7460 - - - P1 ENSP00000354728 P03901.173 Q7GXZ4.206,A0A1X7RC16.4 UPI0000000AA7 - - Ensembl - T T - - - - - - pathogenic,benign 0,1 1,1 20301353,27594409 - - - - - - - - - . NC_012920.1:11253-11253 TGAGGAGCG downstream_gene_variant MODIFIER MT-ND4L ENSG00000212907 Transcript ENST00000361335.1 protein_coding - - - - - - - - - COSV62294075 487 1 - HGNC HGNC:7460 - - - P1 ENSP00000354728 P03901.173 Q7GXZ4.206,A0A1X7RC16.4 UPI0000000AA7 - - Ensembl - T T - - - - - - - 1 1 - - - - - - - - - - . NC_012920.1:11253-11253 C missense_variant MODERATE MT-ND4 ENSG00000198886 Transcript ENST00000361381.2 protein_coding 1/1 - ENST00000361381.2:c.494T>C ENSP00000354961.2:p.Ile165Thr 494 494 165 I/T aTt/aCt rs200145866,COSV62294075 - 1 - HGNC HGNC:7459 - - - P1 ENSP00000354961 P03905.192 A0A1X7RBN5.5,H9EC08.80 UPI0000000AA8 - - Ensembl - T T - tolerated_low_confidence(0.15) benign(0.005) PDB-ENSP_mappings:5xtc.r,PDB-ENSP_mappings:5xtd.r,PDB-ENSP_mappings:5xth.r,PDB-ENSP_mappings:5xti.Br,PDB-ENSP_mappings:5xti.r,Transmembrane_helices:TMhelix,PANTHER:PTHR43507,PANTHER:PTHR43507:SF1,TIGRFAM:TIGR01972,Pfam:PF00361,Prints:PR01437 - - pathogenic,benign 0,1 1,1 20301353,27594409 - - - - - - - - neutral . NC_012920.1:11253-11253 TGAGGAGCG stop_gained,frameshift_variant HIGH MT-ND4 ENSG00000198886 Transcript ENST00000361381.2 protein_coding 1/1 - ENST00000361381.2:c.494_495insGAGGAGCG ENSP00000354961.2:p.Ile165MetfsTer? 494 494 165 I/M*SX aTt/aTGAGGAGCGt COSV62294075 - 1 - HGNC HGNC:7459 - - - P1 ENSP00000354961 P03905.192 A0A1X7RBN5.5,H9EC08.80 UPI0000000AA8 - - Ensembl - T T - - - PDB-ENSP_mappings:5xtc.r,PDB-ENSP_mappings:5xtd.r,PDB-ENSP_mappings:5xth.r,PDB-ENSP_mappings:5xti.Br,PDB-ENSP_mappings:5xti.r,Transmembrane_helices:TMhelix,PANTHER:PTHR43507,PANTHER:PTHR43507:SF1,TIGRFAM:TIGR01972,Pfam:PF00361,Prints:PR01437 - - - 1 1 - - - - - - - - - - . NC_012920.1:15326-15326 G missense_variant MODERATE MT-CYB ENSG00000198727 Transcript ENST00000361789.2 protein_coding 1/1 - ENST00000361789.2:c.580A>G ENSP00000354554.2:p.Thr194Ala 580 580 194 T/A Aca/Gca rs2853508 - 1 - HGNC HGNC:7427 - - - P1 ENSP00000354554 P00156.213 Q0ZFD6.137 UPI0000DA7DCA - - Ensembl - A A - tolerated_low_confidence(0.28) benign(0.009) PDB-ENSP_mappings:5xte.J,PDB-ENSP_mappings:5xte.V,PDB-ENSP_mappings:5xth.AJ,PDB-ENSP_mappings:5xth.AV,PDB-ENSP_mappings:5xti.AJ,PDB-ENSP_mappings:5xti.AV,Low_complexity_(Seg):seg,Transmembrane_helices:TMhelix,PROSITE_profiles:PS51002,CDD:cd00284,PANTHER:PTHR19271:SF5,PANTHER:PTHR19271,Gene3D:1.20.810.10,Pfam:PF00033,PIRSF:PIRSF038885,Superfamily:SSF81342 - - benign,likely_pathogenic - 1 31267007 - - - - - - - - neutral . NC_012920.1:16362-16362 C downstream_gene_variant MODIFIER MT-CYB ENSG00000198727 Transcript ENST00000361789.2 protein_coding - - - - - - - - - rs62581341 475 1 - HGNC HGNC:7427 - - - P1 ENSP00000354554 P00156.213 Q0ZFD6.137 UPI0000DA7DCA - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:16362-16362 C downstream_gene_variant MODIFIER MT-TT ENSG00000210195 Transcript ENST00000387460.2 Mt_tRNA - - - - - - - - - rs62581341 409 1 - HGNC HGNC:7499 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:16362-16362 C upstream_gene_variant MODIFIER MT-TP ENSG00000210196 Transcript ENST00000387461.2 Mt_tRNA - - - - - - - - - rs62581341 339 -1 - HGNC HGNC:7494 - - - - - - - - - - Ensembl - T T - - - - - - - - - - - - - - - - - - - . NC_012920.1:16482-16482 G upstream_gene_variant MODIFIER MT-TP ENSG00000210196 Transcript ENST00000387461.2 Mt_tRNA - - - - - - - - - rs878935154 459 -1 - HGNC HGNC:7494 - - - - - - - - - - Ensembl - A A - - - - - - - - - - - - - - - - - - -