| Custom Name | dbSNP id | Position | Length | Taxonomy | Molecule | Class | Build | Flanking Sequence - Left | Alleles | Flanking Sequence - Right | MAF | MAF Species | Chromosome | Annotation | Reference | Source | Scores (seq.qual/info) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BGISUSV0000213136 | 31872 | 61 | 9823 | GTGTTCTCTCCCTACGTCAAAAAGGAGCCC | A/G | TGTACCAGTTGCCCTGTGGCCACCTCCTGT | 17 | UBOX5|Change amino acid:a | SANGERun|bE196N9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213137 | 31881 | 61 | 9823 | CCCTACGTCAAAAAGGAGCCCATGTACCAG | T/C | TGCCCTGTGGCCACCTCCTGTGCCGGCCCT | 17 | UBOX5|Change amino acid:s | SANGERun|bE196N9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213138 | 31934 | 61 | 9823 | CCGGCCCTGCCTGGCTGAGAAGCAGCGCTC | T/C | CTGCCCATGACATGCACAGCCTGCCAGCAG | 17 | UBOX5|Change amino acid:s | SANGERun|bE196N9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213139 | 47609068 | 61 | 9823 | GAGTGTTTTTCTTCTCTCGGCCCTGTAGAG | C/G | CACAGGCACTGAAAGTGGCTCCGGAAGCGA | 4 | MRPS28|Change amino acid:a | preensembl|chr4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213148 | 196014 | 61 | 9823 | CATCTATGAGTATGGAGCCCTCACCCTCAA | T/G | GGCGAGGAGTACATCCCGTTCAAGCAGTAC | 7 | GPX6|Change amino acid:a | SANGERas|bE485A8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213149 | 195963 | 61 | 9823 | CAAGCAGTACGCAGGCAAACACGTCCTCTT | T/G | GTCAACGTGGCCACCTATTGAGGCTTGACA | 7 | GPX6|Change amino acid:a | SANGERas|bE485A8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213150 | 195956 | 61 | 9823 | TACGCAGGCAAACACGTCCTCTTTGTCAAC | A/G | TGGCCACCTATTGAGGCTTGACAGCTCAGT | 7 | GPX6|Change amino acid:a | SANGERas|bE485A8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213151 | 190341 | 61 | 9823 | AGGAGCTGAAGCCTTTGGGTGTAGTTGTGT | T/G | GGGCTTTCCCTGCAACCAATTTGGAAAACA | 7 | GPX6|Change amino acid:a | SANGERas|bE485A8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213152 | 190319 | 61 | 9823 | AGTTGTGTTGGGCTTTCCCTGCAACCAATT | T/G | GGAAAACAAGAACCAGCAAAGAACTCAGAG | 7 | GPX6|Change amino acid:a | SANGERas|bE485A8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213159 | 172210 | 61 | 9823 | AAGGAACAACAGTGACGTGGAAGAGGCGGG | A/G | CCCACAAGTCGTAACAGAAAGAAGACCAAG | 9 | DDX10|Change amino acid:s | SANGERun|bE253C6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213165 | 177302 | 61 | 9823 | ATTTACTGATCCAGCCCACACAGAAGAATT | T/G | GCCTATGAAAATTCTCCAGAGCTTAATCCA | 1 | NDUFAF1|Change amino acid:a | SANGERun|bE338E24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213169 | 88873 | 61 | 9823 | TTATCTACGGGTACGTGGCTGAACAGTTCG | T/G | GTGGACTGTCTATATAGTTATGGCGGGATT | 13 | SPCS1|Change amino acid:a | SANGERun|bE456I18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213180 | 28290 | 61 | 9823 | AGAGGCCCTGAAGGAGCGGGACTACATTTT | T/G | GGGAACTACATCGAACGGCTCTGGGCCTAC | 13 | ITIH3|Change amino acid:a | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213182 | 31853 | 61 | 9823 | CCAGGACTCTCAACCCAGAAAGACCTACTT | T/G | GGCAAACTGGGCATTGCCAATGCTCACCTG | 13 | ITIH3|Change amino acid:a | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213183 | 33131 | 61 | 9823 | GCTCTGACCCCACAAAGCCAGATGCCACAA | T/G | GGTGGTGAAGAATCATCGGCTGACAGTCAC | 13 | ITIH3|Change amino acid:a | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213194 | 107201 | 61 | 9823 | TTAACATGTTGAAAAATAGGCTTCAATCAT | T/G | GGAAGCAATTGAGAAAGACTTCCAAAAAAC | 13 | FILIP1L|Change amino acid:a | SANGERun|bE434O16 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213195 | 107201 | 61 | 9823 | TTAACATGTTGAAAAATAGGCTTCAATCAT | T/G | GGAAGCAATTGAGAAAGACTTCCAAAAAAC | 13 | FILIP1L|Change amino acid:a | SANGERun|bE434O16 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213197 | 163106 | 61 | 9823 | CTGTGGAAGGATGTCCCTCATTTGTCATCT | T/G | GGACTGGGATAAGCCGCTAAATGACACTGT | 13 | ABI3BP|Change amino acid:a | SANGERun|bE174E9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213199 | 101071 | 61 | 9823 | GGGGCAGACCTTGACGCTCACACAGCAGCA | T/G | AGAGATCTCTACCAACAAGAGAAGGCACAG | 13 | ATP2C1|Change amino acid:a | SANGERun|bE198D4 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213200 | 40975 | 61 | 9823 | TGGTCTACAGGAAGTCGCTGAACAGTTAGA | A/G | CTGGAACGGATAGGACCACAACATCAGGCA | 17 | CNOT7|Change amino acid:s | SANGERun|bE40L10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213201 | 40984 | 61 | 9823 | GGAAGTCGCTGAACAGTTAGAGCTGGAACG | A/G | ATAGGACCACAACATCAGGCAGGATCTGAC | 17 | CNOT7|Change amino acid:s | SANGERun|bE40L10 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213203 | 44173 | 61 | 9823 | GTTGCTGGGAGAACCTCATCCTGGCCATGC | T/G | GGGGGAACAGTTCATGGTTGGGGAGGAGAT | 15 | EIF4E2|Change amino acid:a | SANGERun|bE255F5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213204 | 44397 | 61 | 9823 | CGACCAGGCCACCACAGCCCGCATCCGGGA | T/C | ACCCTGCGGCGCGTGCTTAACCTACCTCCC | 15 | EIF4E2|Change amino acid:s | SANGERun|bE255F5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213205 | 84783 | 61 | 9823 | TACAAAATCGGCATTTATGGCTGGAGAAAG | T/C | GCTGCCTCTACTTATTCGTTCTTCTTTTGC | 11 | SGCG|Change amino acid:a | SANGERun|bE139H14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213207 | 38784 | 61 | 9823 | AATTCCTAGAGAGAAATGTTCCAAGAGACT | T/C | TCATTGCCACCTTTCCAACAGCCCCAGAGC | 1 | LAMA4|Change amino acid:a | SANGERun|bE264N18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213208 | 37075 | 61 | 9823 | AGATCCAGAAGAGAATGACTTCATGACTCT | C/G | TTCTTAGCCCATGGCCGCTTGGTGTTCATG | 1 | LAMA4|Change amino acid:s | SANGERun|bE264N18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213209 | 32336 | 61 | 9823 | CAGTTCTGGAATCTTTGTTCATGGCCACAG | T/C | GTCAACGGGGAGTACCTAAATGTTCACATG | 1 | LAMA4|Change amino acid:s | SANGERun|bE264N18 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213212 | 26071 | 61 | 9823 | AGGAGGTTCTAGCTACAATCATGAAACAGA | A/G | ACTATCTTTGCACTACCAAGGATGCAGCTT | 8 | KIAA1109|Change amino acid:s | SANGERun|bE522K15 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213213 | 15901 | 61 | 9823 | TCATTGACTATGAGAATTCAAACAAAGCAT | T/G | GGATAAGGCCCGGTTAAAAAGCAGAGACAT | 17 | SNX5|Change amino acid:a | SANGERun|bE237H22 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213218 | 68970 | 61 | 9823 | GAAGGGTCAGAAGGATGTCTGTGTGGTTCT | A/G | GCCAAGGAGATGATCCGGTCGAGAAAGGCC | 3 | VPS24|Change amino acid:s | SANGERun|bE6L6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213219 | 38815 | 61 | 9823 | TGGGCAAAGCACCTAGTAAAGTGACCTGAC | A/G | CCCTCCCAGAGCCTGAACCTCCAGGAGCCA | 3 | VPS24|Change amino acid:a | SANGERun|bE6L6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213220 | 51082 | 61 | 9823 | GGTCACCAGCACGTCTGTAGAGTCCACGTC | A/G | TCACCCAGTCTGTCGCAGCTGGAGTCTTCC | 1 | CEP110|Change amino acid:s | SANGERun|bE46J12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213221 | 54346 | 61 | 9823 | CCAGCAAAGCCTAACTACATCTCTTTGGAC | A/C | AACTGGTATCTATGCCTGATGAAATATTTT | 4 | MTERFD1|Change amino acid:a | SANGERun|bE381B20 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213223 | 27410 | 61 | 9823 | AACGGGCCAGGAACGTGTGTTCCTATCTGT | A/G | TATCTGCCCTTCTCCTCGGGATACTAGGAA | 4 | ALG14|Change amino acid:a | SANGERun|bE261M9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213224 | 27347 | 61 | 9823 | AAGAAAGTGATCATTGTCTACGTGGAAAGC | A/G | TCTGCCGAGTGGAGCATCTATCCCTCTCCG | 4 | ALG14|Change amino acid:a | SANGERun|bE261M9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213225 | 27329 | 61 | 9823 | TACGTGGAAAGCATCTGCCGAGTGGAGCAT | T/C | TATCCCTCTCCGGAAAGATTCTGTTCCACC | 4 | ALG14|Change amino acid:s | SANGERun|bE261M9 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213246 | 162206 | 61 | 9823 | GAGTAGGCGTGCTGGAGGTGTTGCTCCCTG | A/G | CCAGCCCGAGGCTGTGGCCCGCCTCCGTGC | 17 | GSS|Change amino acid:a | SANGERun|bE93B19 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213255 | 2050 | 61 | 9823 | ACCTGGGGGCATCAAGTGGGGACACCTCTT | T/G | GGGTCCCGGAAGGCTCAGCGGGAGGCCCGG | 1 | RUSC2|Change amino acid:a | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213267 | 170101 | 61 | 9823 | GTATTCAAGTCCAACAGTGTTGAAATGGAT | T/G | GGGTGTTGAAGCATACAGGTCCAAATAGTC | 14 | HNRPH2|Change amino acid:a | SANGERun|bE32D7 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213268 | 170296 | 61 | 9823 | GCGGAGCACAGGGGAGGCCTTTGTGCAGTT | T/G | GCTTCACAGGAGATAGCAGAAAAGGCCTTA | 14 | HNRPH2|Change amino acid:a | SANGERun|bE32D7 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213269 | 170359 | 61 | 9823 | GGTGAGGCAGATGTTGAATTTGCTACTCAT | T/G | AAGATGCCGTGGCAGCTATGGCAAAAGACA | 14 | HNRPH2|Change amino acid:s | SANGERun|bE32D7 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213270 | 61 | 9823 | TTCTACAGCAGGGGCAAGTGGTGGTGCCTA | T/C | GGTAGCCAAATGATGGGAGGGATGGGCATA | 14 | HNRPH2|Change amino acid:s | SANGERun|bE32D7 | Miguel Perez (PIGGIS) | 60 / 50 | |||||||
| BGISUSV0000213271 | 120301 | 61 | 9823 | CAGCGCTTCACACCTTTTACCCTGGGCAAG | T/G | AGTTCAAAGAGGGACACAGTTACTACTACA | 4 | EFNA1|Change amino acid:s | SANGERun|bE242M24 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213273 | 62384 | 61 | 9823 | GGATCTTTTGGATGAAAAGACACTGGTGGC | A/G | GTAGAACGGCCTCTGGATGACATCATTGCT | 11 | CIRH1A|Change amino acid:s | SANGERun|bE392G6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213275 | 8704 | 61 | 9823 | CCGTAGGATCTACAGAATATTTTCACATGC | T/C | TATTTTCATCACCGGCAGATTTTTGATGAA | 5 | MOBKL3|Change amino acid:s | SANGERun|bE72B19 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213276 | 113551 | 61 | 9823 | CCTTGGTGCAATAAGGAACTTAAAACAATG | T/G | AGGAGCGCAAAGTGAAGAGGAGGAGTCCTA | 1 | CCDC28A|Change amino acid:s | SANGERun|bE223F5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213277 | 115523 | 61 | 9823 | GATCCAACACTCCTTTCTCACCGATGTCTC | T/C | GATGTCCAGGAGATGGAGAGGGGGCTCCTC | 1 | CCDC28A|Change amino acid:s | SANGERun|bE223F5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213283 | 168639 | 61 | 9823 | TTCCCGCACTACTTCACTAAGGGCATCCCC | A/C | ATGTGCTGCGCCGCACTCGGGCGTGCATCC | 2 | UQCRQ|Change amino acid:a | SANGERas|bE18J12 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213289 | 90098 | 61 | 9823 | CTGTCCTGAGCGTGTGTGTCAGCACTTGGA | A/G | CAGGTGCTGCTTGGTGCCATAGCCTTTGTG | 9 | C1orf74|Change amino acid:s | SANGERun|bE186K8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213290 | 90114 | 61 | 9823 | TGTCAGCACTTGGAACAGGTGCTGCTTGGT | T/G | CCATAGCCTTTGTGGATGTTTCCAGCGCTC | 9 | C1orf74|Change amino acid:a | SANGERun|bE186K8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213291 | 90117 | 61 | 9823 | CAGCACTTGGAACAGGTGCTGCTTGGTGCC | A/G | TAGCCTTTGTGGATGTTTCCAGCGCTCAGC | 9 | C1orf74|Change amino acid:a | SANGERun|bE186K8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213292 | 90198 | 61 | 9823 | CCTGGACCAGCTTCAGGACTTGAAGGCCCT | C/G | CTGGCTGAGATCATCGCTCATTTGCAGGGA | 9 | C1orf74|Change amino acid:s | SANGERun|bE186K8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213293 | 90428 | 61 | 9823 | GTATTCACTGCCCGGATCTCTTGGCGACAC | A/C | GTCAACCACCAGTCTTGCTCTATTCCTTTA | 9 | C1orf74|Change amino acid:a | SANGERun|bE186K8 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213296 | 141819 | 61 | 9823 | GCCCTGGGCCCTGTGGCCCAGCCCTACCTT | T/G | GGTGGAAAAAGCACATGACAGCCATCCAGC | 6 | ELOVL1|Change amino acid:a | SANGERun|bE210N13 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213299 | 150547 | 61 | 9823 | GTGGCTACTGAGCTGTGGACGTATGTTCGT | T/G | GGTACACCCAGTTGAGACGTGTTTTATTCA | 4 | CLCC1|Change amino acid:a | SANGERun|bE263L6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213301 | 164519 | 61 | 9823 | ATCCCGCCCCAGCCCTGGTACAAGTCTACT | T/C | TCATCCACATGACTGTTGGAGGCTTCCTGC | 7 | TM9SF1|Change amino acid:a | SANGERun|bE406B17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213302 | 25678 | 61 | 9823 | GCACAGAGAAGACCATGATAAGAGAAGGCA | T/C | CTTGCACATAAGTTCTGTCTGACCCCGGCT | 12 | BPTF|Change amino acid:s | SANGERun|bE358O17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213303 | 25617 | 61 | 9823 | GGGGAGTTCAAATGGAACGGTTCTGTCCAC | T/G | GGTCCAAGGTTCTTACCATATCTACTCTGA | 12 | BPTF|Change amino acid:a | SANGERun|bE358O17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213313 | 8316 | 61 | 9823 | TCGCATGATTGACTTTCTGAGGTTCCGGCC | A/G | GAGCATGAATCCAAGCCAGGACCCTTTGAG | 7 | MRPL2|Change amino acid:s | SANGERas|bE96L23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213314 | 6768 | 61 | 9823 | GTTACGTGAAGCTGCCCTCAGCTGCTGCCC | A/C | AAGCTAATATTCCTGGACTCTAATAAAGTG | 7 | MRPL2|Change amino acid:s | SANGERas|bE96L23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213316 | 6934 | 61 | 9823 | ACGTGCATAGCAACCGTGGGCCGAGTATCC | A/C | ATGTTGATCATAACAAACGGGTCATCGGCA | 7 | MRPL2|Change amino acid:a | SANGERas|bE96L23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213318 | 25678 | 61 | 9823 | GCACAGAGAAGACCATGATAAGAGAAGGCA | T/C | CTTGCACATAAGTTCTGTCTGACCCCGGCT | 12 | BPTF|Change amino acid:s | SANGERun|bE358O17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213319 | 25617 | 61 | 9823 | GGGGAGTTCAAATGGAACGGTTCTGTCCAC | T/G | GGTCCAAGGTTCTTACCATATCTACTCTGA | 12 | BPTF|Change amino acid:a | SANGERun|bE358O17 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213321 | 127828 | 61 | 9823 | GGCCTGCCAGAAGCGGCCCTCAGGACACCT | T/C | GCGTCTGTGCTCAGTGGGGCTGAGGCATCC | 3 | REG3A|Change amino acid:s | SANGERun|bE64C23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213322 | 127825 | 61 | 9823 | CTGCCAGAAGCGGCCCTCAGGACACCTCGC | A/G | TCTGTGCTCAGTGGGGCTGAGGCATCCTTC | 3 | REG3A|Change amino acid:s | SANGERun|bE64C23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213323 | 127822 | 61 | 9823 | CCAGAAGCGGCCCTCAGGACACCTCGCGTC | T/C | GTGCTCAGTGGGGCTGAGGCATCCTTCGTG | 3 | REG3A|Change amino acid:s | SANGERun|bE64C23 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213327 | 170399 | 61 | 9823 | GTCAAAGATGCTGTTTGAGCCAGGAACAAC | T/C | GAGCTGACAATCTCTTGGCCTCGAAGCACA | 13 | DNASE1L3|Change amino acid:s | SANGERun|bE255O5 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213332 | 42531 | 61 | 9823 | CGGGCTCCGCCTCAGCAGGACCCAGCTTAC | T/C | TGGCAGTACTCTCCCCACCAATGTACGCTC | 17 | NCOA6|Change amino acid:a | SANGERun|bE31I6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213337 | 90954 | 61 | 9823 | AAGTAGATGACACACCAGTTATGCTACAGA | A/C | CACATGTGCCGTGCATGGTGGCTCCAGCGG | 14 | TYSND1|Change amino acid:a | SANGERun|bE304F15 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213347 | 1411 | 61 | 9823 | GTGCCCACTGCTGCTGTGCCCCATGAACTT | T/G | GTGCCGGTGCCTCGGCCAGACCCCGTGCCT | 9 | NP_061134.1|Change amino acid:a | SANGERun|bE238G6 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213352 | 127004 | 61 | 9823 | CATTAAGTAACAACAGCTTATTTCTAGAAT | A/G | TGCCAAAAATCCTTTTTTAGATTTTCTCCA | 4 | AMPD1|Change amino acid:a | SANGERun|bE266G7 | Miguel Perez (PIGGIS) | 60 / 50 | ||||||
| BGISUSV0000213178 | 95553 | 60 | 9823 | GCCTTCAATAATCTGGAGAATCTTGTCTT | T/G | GGCAAAGGATTCCAAGCAAAGATCTTCCCC | 4 | KRTCAP2|Change amino acid:a | SANGERun|bE242M24 | Miguel Perez (PIGGIS) | 59 / 50 | ||||||
| BGISUSV0000213154 | 188600 | 59 | 9823 | AACTCCTGCCCTCCAACCTCTGATCTTT | T/G | GGGCTCATCAAACCAACTCTTCTGGGAGCC | 7 | GPX6|Change amino acid:a | SANGERas|bE485A8 | Miguel Perez (PIGGIS) | 58 / 50 | ||||||
| BGISUSV0000213202 | 44109 | 58 | 9823 | GACGATGCAAATAAAAACGGTGGCAAG | A/T | GGATCATTCGGCTGCGGAAGGGCTTGGCGT | 15 | EIF4E2|Change amino acid:a | SANGERun|bE255F5 | Miguel Perez (PIGGIS) | 57 / 50 | ||||||
| BGISUSV0000213297 | 142037 | 58 | 9823 | TCCAGTTCGTGCTGGTGTCCCTGCACG | T/C | CTCCCAGTACTACTTCGTGCCGGCCTGCGA | 6 | ELOVL1|Change amino acid:a | SANGERun|bE210N13 | Miguel Perez (PIGGIS) | 57 / 50 | ||||||
| BGISUSV0000213198 | 168979 | 57 | 9823 | GAATATGAAGTTATATCGAGAGAAAA | T/C | GGGTCCTTCAGTGGTAAGAACAAGTCCATT | 13 | ABI3BP|Change amino acid:s | SANGERun|bE174E9 | Miguel Perez (PIGGIS) | 56 / 50 | ||||||
| BGISUSV0000213329 | 170848 | 57 | 9823 | CACCAACAGCAAAAAATCCATCTCTTCAAA | A/G | AAGAAAAAAAAGGCCAGTCGCACCTA | 13 | DNASE1L3|Change amino acid:s | SANGERun|bE255O5 | Miguel Perez (PIGGIS) | 56 / 50 | ||||||
| BGISUSV0000213350 | 128228 | 57 | 9823 | AAGGAACGAGGCATGAATACGTTTCT | T/G | TTCCGACCTCACTGTGGGGAAGCTGGAGCT | 4 | AMPD1|Change amino acid:s | SANGERun|bE266G7 | Miguel Perez (PIGGIS) | 56 / 50 | ||||||
| BGISUSV0000213256 | 2583 | 55 | 9823 | CTATGTGACTTTGACCCCAACTCCAAGTCC | A/G | ACCCCTGGAAGCAGCCAAAACTGA | 1 | RUSC2|Change amino acid:s | SANGERun|bE97C14 | Miguel Perez (PIGGIS) | 54 / 50 | ||||||
| BGISUSV0000213315 | 6757 | 55 | 9823 | CTGCCCTCAGCTGCTGCCCCAAGCTAATAT | T/C | CCTGGACTCTAATAAAGTGGCCCC | 7 | MRPL2|Change amino acid:a | SANGERas|bE96L23 | Miguel Perez (PIGGIS) | 54 / 50 | ||||||
| BGISUSV0000213177 | 95547 | 54 | 9823 | GCCTTCAATAATCTGGAGAATCT | T/G | GTCTTTGGCAAAGGATTCCAAGCAAAGATC | 4 | KRTCAP2|Change amino acid:s | SANGERun|bE242M24 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000213222 | 27426 | 54 | 9823 | GTGTTGTGTAACGGGCCAGGAAC | A/G | TGTGTTCCTATCTGTGTATCTGCCCTTCTC | 4 | ALG14|Change amino acid:s | SANGERun|bE261M9 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000213272 | 120292 | 54 | 9823 | ACACCTTTTACCCTGGGCAAGGAGTTCAAA | T/G | AGGGACACAGTTACTACTACATC | 4 | EFNA1|Change amino acid:s | SANGERun|bE242M24 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000213295 | 141538 | 54 | 9823 | GTGATCTTTATTCTCCGGAAAAA | A/G | GACGGACAGGTGACCTTCCTCCACGTCTTC | 6 | ELOVL1|Change amino acid:s | SANGERun|bE210N13 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000213330 | 170851 | 54 | 9823 | CAACAGCAAAAAATCCATCTCTTCAAAGAA | A/G | AAAAAAAAGGCCAGTCGCACCTA | 13 | DNASE1L3|Change amino acid:s | SANGERun|bE255O5 | Miguel Perez (PIGGIS) | 53 / 50 | ||||||
| BGISUSV0000213168 | 88857 | 53 | 9823 | AGTTGGATTTATCTACGGGTAC | A/G | TGGCTGAACAGTTCGGGTGGACTGTCTATA | 13 | SPCS1|Change amino acid:a | SANGERun|bE456I18 | Miguel Perez (PIGGIS) | 52 / 50 | ||||||
| BGISUSV0000213320 | 189468 | 53 | 9823 | GGTGAAGATTCCCCAGCAGACA | T/C | GCCCTCTGCACGGATCAGCTGTCCCAAAGG | 3 | REG3A|Change amino acid:a | SANGERun|bE64C23 | Miguel Perez (PIGGIS) | 52 / 50 | ||||||
| BGISUSV0000213348 | 1386 | 53 | 9823 | ACTTTGTGCCGGTGCCTCGGCCAGACCCCG | T/G | GCCTGGCTGCCTGCCCCGGTGA | 9 | NP_061134.1|Change amino acid:a | SANGERun|bE238G6 | Miguel Perez (PIGGIS) | 52 / 50 | ||||||
| BGISUSV0000213140 | 47609164 | 52 | 9823 | CGGCTTCGCGAGCGCTTTGGAGCGGCACTC | C/G | GAGTTGCAGCAGAAGGCGGAG | 4 | MRPS28|Change amino acid:s | preensembl|chr4 | Miguel Perez (PIGGIS) | 51 / 50 | ||||||
| BGISUSV0000213176 | 95361 | 50 | 9823 | ACCATCCAGGGCGGCCTACTTGGTTCCGGC | T/C | TTTTCGTCTTCTCTCTCAC | 4 | KRTCAP2|Change amino acid:a | SANGERun|bE242M24 | Miguel Perez (PIGGIS) | 49 / 50 | ||||||
| BGISUSV0000213181 | 29171 | 49 | 9823 | GCCCGAGGACAATGAGAACCAGACAGCCAT | T/G | GCTGACAAGCCCGGGGAA | 13 | ITIH3|Change amino acid:a | SANGERun|bE511E20 | Miguel Perez (PIGGIS) | 48 / 50 | ||||||
| BGISUSV0000213328 | 36768 | 49 | 9823 | GGAAATCGCGACGAGAAC | T/C | AGAATGTTAACCCCCAGATGGCTCAGGAAG | 14 | ANXA7|Change amino acid:s | SANGERun|bE262J5 | Miguel Perez (PIGGIS) | 48 / 50 | ||||||
| BGISUSV0000213300 | 150487 | 48 | 9823 | ATCAGTTTTCTCGTCAGTTTGGGATGGAAT | T/G | GGATATATTTATATAAG | 4 | CLCC1|Change amino acid:a | SANGERun|bE263L6 | Miguel Perez (PIGGIS) | 47 / 50 | ||||||
| BGISUSV0000213179 | 97814 | 47 | 9823 | TGCTTCATCTTCTCCA | T/G | GGTTGGTCTGTACTACATCAACAAGATCTC | 4 | KRTCAP2|Change amino acid:a | SANGERun|bE242M24 | Miguel Perez (PIGGIS) | 46 / 50 | ||||||
| BGISUSV0000213282 | 168545 | 45 | 9823 | ATGGGTCGCGAGTT | T/G | GGGCATCTGACGCGGATGCGCCATGTGATC | 2 | UQCRQ|Change amino acid:a | SANGERas|bE18J12 | Miguel Perez (PIGGIS) | 44 / 50 | ||||||
| BGISUSV0000213206 | 47345 | 40 | 9823 | AGGTATGAG | T/C | TGATAGTAGATAAGAGCAGACTTGGGAGTA | 1 | LAMA4|Change amino acid:s | SANGERun|bE264N18 | Miguel Perez (PIGGIS) | 39 / 50 | ||||||
| BGISUSV0000213294 | 140825 | 39 | 9823 | GATCCTCG | C/G | ATCCAGAACTACCCTCTGATGGGGTCCCCC | 6 | ELOVL1|Change amino acid:s | SANGERun|bE210N13 | Miguel Perez (PIGGIS) | 38 / 50 | ||||||
| BGISUSV0000213153 | 190282 | 38 | 9823 | AAGAACCAGCAAAGAACTCAGAGATTCTTT | T/G | GGGGCTC | 7 | GPX6|Change amino acid:a | SANGERas|bE485A8 | Miguel Perez (PIGGIS) | 37 / 50 | ||||||
| BGISUSV0000213317 | 6768 | 38 | 9823 | GTTACGTGAAGCTGCCCTCAGCTGCTGCCC | A/C | AAGCTAA | 7 | MRPL2|Change amino acid:a | SANGERas|bE96L23 | Miguel Perez (PIGGIS) | 37 / 50 | ||||||
| BGISUSV0000213325 | 159603 | 38 | 9823 | GTCATCA | A/C | ACGCTGCGACATCATACTCCTGATGGAAAT | 13 | DNASE1L3|Change amino acid:a | SANGERun|bE255O5 | Miguel Perez (PIGGIS) | 37 / 50 |
100 Rows queried.