Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 1373 |
| ensemblid | ENSG00000021826.18 |
| hgncid | 2323 |
| symbol | CPS1 |
| name | carbamoyl-phosphate synthase 1 |
| refseq_nuc | NM_001875.5 |
| refseq_prot | NP_001866.2 |
| ensembl_nuc | ENST00000233072.10 |
| ensembl_prot | ENSP00000233072.5 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 210556599 |
| end | 210679107 |
| strand | + |
| ver | v1.2 |
| region | chr2:210556599-210679107 |
| region5000 | chr2:210551599-210684107 |
| regionname0 | CPS1_chr2_210556599_210679107 |
| regionname5000 | CPS1_chr2_210551599_210684107 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1500 | 129 | 34 | 20 | 58 | 6 | 10 | 45 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0002 | 1/0 | 1500 | 96 | 17 | 17 | 51 | 2 | 8 | 46 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0003 | 0/0 | 1500 | 61 | 21 | 11 | 22 | 0 | 7 | 18 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0004 | 0/0 | 1500 | 34 | 9 | 10 | 6 | 0 | 9 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0005 | 0/0 | 1500 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0006 | 0/0 | 1500 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0007 | 0/0 | 1500 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0008 | 0/0 | 1500 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0009 | 0/0 | 1500 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0010 | 0/0 | 1500 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0011 | 0/0 | 1500 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0012 | 0/0 | 1500 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0013 | 0/0 | 1500 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0014 | 0/0 | 1500 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0015 | 0/0 | 1500 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0016 | 0/0 | 1500 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| a0017 | 0/0 | 1500 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | MTRIL others(1495): Show |
chr2 | 210551599 | 210684107 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 4500 | 115 | 30 | 18 | 51 | 6 | 9 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0001c0006 | 0/0 | 4500 | 9 | 0 | 1 | 7 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0001c0024 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0001c0028 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0001c0029 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0001c0030 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0001c0032 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0002c0002 | 1/0 | 4500 | 77 | 5 | 16 | 47 | 2 | 6 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0002c0005 | 0/0 | 4500 | 12 | 5 | 1 | 4 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0002c0009 | 0/0 | 4500 | 4 | 4 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0002c0013 | 0/0 | 4500 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0002c0021 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0003c0003 | 0/0 | 4500 | 52 | 19 | 9 | 18 | 0 | 6 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0003c0008 | 0/0 | 4500 | 6 | 0 | 2 | 3 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0003c0018 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0003c0025 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0003c0031 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0004c0004 | 0/0 | 4500 | 26 | 4 | 10 | 6 | 0 | 6 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0004c0007 | 0/0 | 4500 | 8 | 5 | 0 | 0 | 0 | 3 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0005c0010 | 0/0 | 4500 | 3 | 3 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0006c0011 | 0/0 | 4500 | 3 | 3 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0007c0015 | 0/0 | 4500 | 2 | 0 | 2 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0008c0014 | 0/0 | 4500 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0009c0012 | 0/0 | 4500 | 2 | 0 | 0 | 2 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0010c0020 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0011c0027 | 0/0 | 4500 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0012c0017 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0013c0019 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0014c0023 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0015c0022 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0016c0016 | 0/0 | 4500 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 | ||
| a0017c0026 | 0/0 | 4500 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | ATGAC others(4495): Show |
chr2 | 210551599 | 210684107 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 5760 | 17 | 2 | 1 | 14 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0002 | 0/0 | 5763 | 17 | 2 | 0 | 13 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0003 | 0/0 | 5760 | 23 | 4 | 1 | 16 | 1 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0006 | 0/0 | 5763 | 15 | 3 | 1 | 8 | 0 | 3 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0007 | 0/0 | 5763 | 14 | 5 | 5 | 0 | 3 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0008 | 0/0 | 5760 | 3 | 2 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0009 | 0/0 | 5763 | 8 | 7 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0010 | 0/0 | 5763 | 5 | 1 | 3 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0011 | 0/0 | 5760 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0013 | 0/1 | 5763 | 3 | 0 | 1 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0014 | 0/0 | 5760 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0016 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0017 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0018 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0019 | 0/0 | 5763 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0023 | 0/0 | 5760 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0025 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0028 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0001t0029 | 0/0 | 5763 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0006t0001 | 0/0 | 5760 | 3 | 0 | 1 | 2 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0001c0006t0002 | 0/0 | 5763 | 2 | 0 | 0 | 2 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0006t0006 | 0/0 | 5763 | 4 | 0 | 0 | 3 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0024t0017 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0028t0024 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0029t0007 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0030t0007 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0001c0032t0026 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0001 | 1/0 | 5760 | 37 | 0 | 2 | 32 | 1 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0002 | 0/0 | 5763 | 12 | 0 | 6 | 5 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0003 | 0/0 | 5760 | 15 | 3 | 2 | 9 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0005 | 0/0 | 5760 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0007 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0008 | 0/0 | 5760 | 3 | 1 | 1 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0011 | 0/0 | 5760 | 2 | 1 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0012 | 0/0 | 5760 | 2 | 0 | 2 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0015 | 0/0 | 5760 | 2 | 0 | 0 | 0 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0021 | 0/0 | 5760 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0002t0022 | 0/0 | 5760 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0005t0001 | 0/0 | 5760 | 3 | 0 | 0 | 3 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0005t0003 | 0/0 | 5760 | 5 | 4 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0005t0006 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0005t0008 | 0/0 | 5760 | 2 | 0 | 0 | 0 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0005t0012 | 0/0 | 5760 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0009t0003 | 0/0 | 5760 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0002c0009t0006 | 0/0 | 5763 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0009t0007 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0013t0006 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0013t0007 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0002c0021t0002 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0003c0003t0001 | 0/0 | 5760 | 3 | 3 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0003c0003t0002 | 0/0 | 5763 | 6 | 6 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0003c0003t0004 | 0/0 | 5763 | 28 | 6 | 3 | 14 | 0 | 5 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0003c0003t0005 | 0/0 | 5760 | 14 | 3 | 6 | 4 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0003c0003t0027 | 0/0 | 5751 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5746): Show |
chr2 | 210551599 | 210684107 |
| a0003c0008t0004 | 0/0 | 5763 | 5 | 0 | 1 | 3 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0003c0008t0005 | 0/0 | 5760 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0003c0018t0002 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0003c0025t0004 | 0/0 | 5763 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0003c0031t0002 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0004c0004t0002 | 0/0 | 5763 | 3 | 2 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0004c0004t0004 | 0/0 | 5763 | 8 | 0 | 3 | 3 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0004c0004t0005 | 0/0 | 5760 | 15 | 2 | 6 | 3 | 0 | 4 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0004c0007t0001 | 0/0 | 5760 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0004c0007t0004 | 0/0 | 5763 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0004c0007t0005 | 0/0 | 5760 | 5 | 3 | 0 | 0 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0005c0010t0008 | 0/0 | 5760 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0005c0010t0010 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0005c0010t0014 | 0/0 | 5760 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0006c0011t0001 | 0/0 | 5760 | 3 | 3 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0007c0015t0011 | 0/0 | 5760 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0007c0015t0020 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0008c0014t0007 | 0/0 | 5763 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0009c0012t0005 | 0/0 | 5760 | 2 | 0 | 0 | 2 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0010c0020t0011 | 0/0 | 5760 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0011c0027t0016 | 0/0 | 5763 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0012c0017t0005 | 0/0 | 5760 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0013c0019t0001 | 0/0 | 5760 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5755): Show |
chr2 | 210551599 | 210684107 |
| a0014c0023t0006 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0015c0022t0002 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0016c0016t0002 | 0/0 | 5763 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| a0017c0026t0006 | 0/0 | 5763 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | AAAGA others(5758): Show |
chr2 | 210551599 | 210684107 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0011 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0002g0322 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0003g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0036 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0291 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0006g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0053 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0301 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0302 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0007g0303 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0008g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0008g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0008g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0009g0012 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0009g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0009g0243 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0009g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0009g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0009g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0009g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0010g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0010g0052 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0010g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0010g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0010g0299 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0011g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0013g0032 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0013g0033 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0013g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0014g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0016g0323 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0017g0318 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0018g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0019g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0023g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0025g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0028g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0001t0029g0274 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0002g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0006g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0006g0272 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0006g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0006t0006g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0024t0017g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0028t0024g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0029t0007g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0030t0007g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0001c0032t0026g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0141 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0305 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0308 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0312 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0313 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0314 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0315 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0321 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0002g0324 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0004 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0003g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0005g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0007g0306 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0008g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0008g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0008g0180 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0011g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0011g0178 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0012g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0015g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0015g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0021g0232 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0002t0022g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0001g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0003g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0003g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0003g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0003g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0003g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0006g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0008g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0008g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0005t0012g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0009t0003g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0009t0006g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0009t0006g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0009t0007g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0013t0006g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0013t0007g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0002c0021t0002g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0001g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0002g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0002g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0002g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0002g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0002g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0275 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0297 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0298 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0004g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0005g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0003t0027g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0008t0004g0001 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0008t0004g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0008t0004g0273 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0008t0005g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0018t0002g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0025t0004g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0003c0031t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0002g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0002g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0307 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0004g0320 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0169 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0004t0005g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0007t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0007t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0007t0004g0319 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0007t0005g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0007t0005g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0007t0005g0206 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0004c0007t0005g0226 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0005c0010t0008g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0005c0010t0010g0284 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0005c0010t0014g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0006c0011t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0006c0011t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0007c0015t0011g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0007c0015t0020g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0008c0014t0007g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0008c0014t0007g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0009c0012t0005g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0009c0012t0005g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0010c0020t0011g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0011c0027t0016g0300 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0012c0017t0005g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0013c0019t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0014c0023t0006g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0015c0022t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0016c0016t0002g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| a0017c0026t0006g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0007 | g0061 | EUR | GBR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00140 | hp2 | a0001 | c0001 | t0003 | g0135 | EUR | GBR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00323 | hp1 | a0001 | c0001 | t0007 | g0301 | EUR | FIN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00323 | hp2 | a0002 | c0002 | t0001 | g0175 | EUR | FIN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00408 | hp1 | a0003 | c0003 | t0004 | g0039 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00408 | hp2 | a0001 | c0006 | t0001 | g0115 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00438 | hp1 | a0003 | c0003 | t0005 | g0082 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00438 | hp2 | a0002 | c0002 | t0001 | g0205 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00558 | hp1 | a0002 | c0002 | t0001 | g0165 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00597 | hp1 | a0001 | c0001 | t0006 | g0040 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00597 | hp2 | a0001 | c0001 | t0002 | g0322 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00609 | hp1 | a0003 | c0003 | t0004 | g0046 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00609 | hp2 | a0001 | c0001 | t0006 | g0241 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00621 | hp1 | a0004 | c0004 | t0004 | g0063 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00621 | hp2 | a0002 | c0002 | t0001 | g0181 | EAS | CHS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00639 | hp1 | a0002 | c0002 | t0002 | g0313 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00639 | hp2 | a0001 | c0001 | t0016 | g0323 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00733 | hp1 | a0001 | c0001 | t0010 | g0054 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00733 | hp2 | a0001 | c0001 | t0017 | g0318 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00735 | hp1 | a0001 | c0001 | t0010 | g0051 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00735 | hp2 | a0002 | c0002 | t0012 | g0007 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00738 | hp1 | a0002 | c0002 | t0003 | g0004 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00738 | hp2 | a0003 | c0003 | t0005 | g0099 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00741 | hp1 | a0001 | c0001 | t0007 | g0250 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG00741 | hp2 | a0010 | c0020 | t0011 | g0177 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01069 | hp1 | a0002 | c0002 | t0007 | g0306 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01069 | hp2 | a0001 | c0001 | t0007 | g0281 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01081 | hp1 | a0004 | c0004 | t0004 | g0031 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01081 | hp2 | a0004 | c0004 | t0005 | g0176 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01106 | hp1 | a0002 | c0002 | t0012 | g0007 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01106 | hp2 | a0003 | c0008 | t0005 | g0100 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01109 | hp1 | a0001 | c0001 | t0003 | g0132 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01109 | hp2 | a0004 | c0004 | t0005 | g0151 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01167 | hp1 | a0003 | c0008 | t0004 | g0043 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01167 | hp2 | a0001 | c0001 | t0007 | g0303 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01168 | hp1 | a0007 | c0015 | t0020 | g0055 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01168 | hp2 | a0003 | c0003 | t0005 | g0118 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01169 | hp1 | a0003 | c0003 | t0005 | g0117 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01169 | hp2 | a0001 | c0001 | t0007 | g0302 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01175 | hp1 | a0001 | c0001 | t0006 | g0048 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01175 | hp2 | a0002 | c0002 | t0003 | g0004 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01192 | hp1 | a0002 | c0002 | t0002 | g0315 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01192 | hp2 | a0001 | c0001 | t0010 | g0299 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01243 | hp1 | a0001 | c0001 | t0013 | g0050 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01243 | hp2 | a0001 | c0001 | t0009 | g0244 | AMR | PUR | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01257 | hp1 | a0007 | c0015 | t0011 | g0134 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01257 | hp2 | a0004 | c0004 | t0005 | g0200 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01258 | hp1 | a0004 | c0004 | t0005 | g0198 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01258 | hp2 | a0011 | c0027 | t0016 | g0300 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01261 | hp1 | a0001 | c0001 | t0018 | g0060 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01261 | hp2 | a0002 | c0002 | t0008 | g0144 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01346 | hp1 | a0002 | c0002 | t0022 | g0182 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01346 | hp2 | a0003 | c0003 | t0004 | g0259 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01358 | hp1 | a0003 | c0003 | t0004 | g0059 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01358 | hp2 | a0004 | c0004 | t0004 | g0062 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01361 | hp1 | a0004 | c0004 | t0005 | g0224 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01361 | hp2 | a0001 | c0001 | t0008 | g0098 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01433 | hp1 | a0001 | c0024 | t0017 | g0285 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01433 | hp2 | a0001 | c0001 | t0007 | g0034 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01496 | hp1 | a0003 | c0003 | t0004 | g0057 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01496 | hp2 | a0002 | c0002 | t0021 | g0232 | AMR | CLM | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01516 | hp1 | a0001 | c0001 | t0007 | g0053 | EUR | IBS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01516 | hp2 | a0001 | c0001 | t0013 | g0032 | EUR | IBS | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01884 | hp1 | a0002 | c0005 | t0003 | g0153 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01884 | hp2 | a0001 | c0001 | t0007 | g0016 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01891 | hp1 | a0001 | c0001 | t0003 | g0133 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01891 | hp2 | a0004 | c0007 | t0005 | g0005 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01934 | hp1 | a0002 | c0002 | t0002 | g0312 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01934 | hp2 | a0003 | c0003 | t0005 | g0120 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01943 | hp1 | a0004 | c0004 | t0002 | g0310 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01943 | hp2 | a0001 | c0006 | t0001 | g0113 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01952 | hp1 | a0004 | c0004 | t0004 | g0307 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01952 | hp2 | a0003 | c0003 | t0005 | g0109 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01978 | hp2 | a0002 | c0002 | t0002 | g0314 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01993 | hp1 | a0002 | c0002 | t0001 | g0207 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG01993 | hp2 | a0003 | c0003 | t0005 | g0112 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02015 | hp2 | a0012 | c0017 | t0005 | g0189 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02040 | hp1 | a0001 | c0001 | t0003 | g0105 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02040 | hp2 | a0004 | c0004 | t0004 | g0311 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02071 | hp1 | a0001 | c0006 | t0002 | g0292 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02129 | hp1 | a0002 | c0002 | t0003 | g0140 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02129 | hp2 | a0004 | c0004 | t0004 | g0294 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02135 | hp1 | a0004 | c0004 | t0005 | g0201 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02135 | hp2 | a0001 | c0001 | t0002 | g0293 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02145 | hp1 | a0001 | c0001 | t0009 | g0243 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02145 | hp2 | a0003 | c0003 | t0004 | g0256 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02165 | hp1 | a0001 | c0006 | t0002 | g0042 | EAS | CDX | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02165 | hp2 | a0001 | c0001 | t0006 | g0028 | EAS | CDX | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02257 | hp1 | a0001 | c0001 | t0003 | g0249 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02257 | hp2 | a0002 | c0013 | t0006 | g0074 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02258 | hp1 | a0008 | c0014 | t0007 | g0065 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02258 | hp2 | a0003 | c0003 | t0004 | g0282 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02273 | hp1 | a0002 | c0005 | t0012 | g0171 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02273 | hp2 | a0002 | c0002 | t0002 | g0305 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02280 | hp1 | a0001 | c0001 | t0007 | g0254 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02280 | hp2 | a0005 | c0010 | t0014 | g0137 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02293 | hp1 | a0001 | c0001 | t0025 | g0049 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02293 | hp2 | a0002 | c0002 | t0001 | g0195 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02300 | hp1 | a0004 | c0004 | t0005 | g0169 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02300 | hp2 | a0002 | c0002 | t0002 | g0240 | AMR | PEL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02451 | hp1 | a0001 | c0028 | t0024 | g0071 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02451 | hp2 | a0003 | c0003 | t0005 | g0166 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02523 | hp1 | a0013 | c0019 | t0001 | g0116 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02523 | hp2 | a0003 | c0008 | t0004 | g0001 | EAS | KHV | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02572 | hp1 | a0003 | c0018 | t0002 | g0235 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02572 | hp2 | a0002 | c0009 | t0007 | g0073 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02602 | hp1 | a0002 | c0002 | t0008 | g0180 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02602 | hp2 | a0003 | c0003 | t0004 | g0298 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02615 | hp1 | a0003 | c0003 | t0002 | g0252 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02615 | hp2 | a0003 | c0003 | t0005 | g0127 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02622 | hp1 | a0001 | c0001 | t0002 | g0072 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02622 | hp2 | a0004 | c0007 | t0005 | g0162 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02630 | hp1 | a0001 | c0001 | t0006 | g0325 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02630 | hp2 | a0003 | c0003 | t0002 | g0236 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02647 | hp1 | a0003 | c0003 | t0001 | g0131 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02647 | hp2 | a0002 | c0009 | t0006 | g0078 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02717 | hp1 | a0003 | c0003 | t0001 | g0003 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02717 | hp2 | a0005 | c0010 | t0008 | g0149 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02723 | hp1 | a0004 | c0007 | t0001 | g0161 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02723 | hp2 | a0001 | c0001 | t0009 | g0012 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02738 | hp1 | a0001 | c0001 | t0006 | g0036 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02738 | hp2 | a0001 | c0006 | t0006 | g0272 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02809 | hp1 | a0014 | c0023 | t0006 | g0023 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0130 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02818 | hp1 | a0015 | c0022 | t0002 | g0022 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02818 | hp2 | a0001 | c0001 | t0009 | g0012 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02886 | hp1 | a0001 | c0001 | t0007 | g0070 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02886 | hp2 | a0003 | c0003 | t0004 | g0251 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02895 | hp1 | a0002 | c0005 | t0003 | g0148 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02895 | hp2 | a0004 | c0004 | t0002 | g0013 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02896 | hp1 | a0002 | c0002 | t0003 | g0002 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02896 | hp2 | a0003 | c0003 | t0001 | g0003 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02897 | hp1 | a0002 | c0002 | t0003 | g0002 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02897 | hp2 | a0004 | c0004 | t0002 | g0014 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02922 | hp1 | a0002 | c0009 | t0006 | g0076 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02922 | hp2 | a0006 | c0011 | t0001 | g0248 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0126 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02965 | hp2 | a0002 | c0005 | t0003 | g0150 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02970 | hp1 | a0001 | c0001 | t0009 | g0242 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02970 | hp2 | a0002 | c0002 | t0011 | g0138 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02976 | hp1 | a0003 | c0003 | t0004 | g0326 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02976 | hp2 | a0004 | c0007 | t0005 | g0005 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03017 | hp1 | a0004 | c0004 | t0004 | g0024 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03017 | hp2 | a0002 | c0005 | t0008 | g0147 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03041 | hp1 | a0001 | c0030 | t0007 | g0077 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0278 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03130 | hp1 | a0001 | c0001 | t0008 | g0129 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03130 | hp2 | a0004 | c0007 | t0001 | g0156 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03139 | hp1 | a0003 | c0003 | t0002 | g0283 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03139 | hp2 | a0001 | c0001 | t0007 | g0245 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03195 | hp1 | a0002 | c0013 | t0007 | g0075 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03195 | hp2 | a0001 | c0001 | t0003 | g0124 | AFR | ESN | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03209 | hp1 | a0003 | c0003 | t0004 | g0247 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03209 | hp2 | a0002 | c0009 | t0003 | g0159 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03225 | hp1 | a0003 | c0031 | t0002 | g0018 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03225 | hp2 | a0003 | c0003 | t0004 | g0255 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03239 | hp1 | a0004 | c0004 | t0005 | g0213 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03239 | hp2 | a0001 | c0001 | t0003 | g0125 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03486 | hp1 | a0003 | c0003 | t0005 | g0122 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03486 | hp2 | a0001 | c0001 | t0011 | g0154 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03490 | hp1 | a0004 | c0004 | t0005 | g0152 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03490 | hp2 | a0002 | c0002 | t0002 | g0321 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03491 | hp1 | a0002 | c0005 | t0008 | g0233 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0011 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03492 | hp1 | a0004 | c0004 | t0004 | g0320 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0011 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03540 | hp1 | a0002 | c0021 | t0002 | g0277 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03540 | hp2 | a0003 | c0003 | t0002 | g0237 | AFR | GWD | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03579 | hp1 | a0002 | c0002 | t0008 | g0145 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03579 | hp2 | a0006 | c0011 | t0001 | g0010 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03654 | hp1 | a0004 | c0007 | t0004 | g0319 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03654 | hp2 | a0001 | c0001 | t0006 | g0291 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03704 | hp1 | a0001 | c0001 | t0007 | g0035 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03704 | hp2 | a0004 | c0004 | t0005 | g0086 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03710 | hp1 | a0004 | c0007 | t0005 | g0206 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03710 | hp2 | a0003 | c0003 | t0004 | g0275 | SAS | PJL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03831 | hp1 | a0002 | c0002 | t0015 | g0183 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03831 | hp2 | a0001 | c0001 | t0019 | g0056 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03834 | hp1 | a0004 | c0007 | t0005 | g0226 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03834 | hp2 | a0002 | c0002 | t0015 | g0088 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03942 | hp1 | a0003 | c0003 | t0004 | g0304 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03942 | hp2 | a0002 | c0002 | t0003 | g0222 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG04115 | hp1 | a0001 | c0001 | t0006 | g0041 | SAS | STU | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG04115 | hp2 | a0004 | c0004 | t0005 | g0143 | SAS | STU | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG04184 | hp1 | a0002 | c0002 | t0001 | g0225 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG04184 | hp2 | a0003 | c0003 | t0004 | g0025 | SAS | BEB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG04199 | hp1 | a0003 | c0008 | t0004 | g0273 | SAS | STU | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG04199 | hp2 | a0003 | c0003 | t0004 | g0297 | SAS | STU | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18522 | hp1 | a0005 | c0010 | t0010 | g0284 | AFR | YRI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18522 | hp2 | a0001 | c0001 | t0009 | g0279 | AFR | YRI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0271 | EAS | CHB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18612 | hp2 | a0002 | c0002 | t0001 | g0168 | EAS | CHB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18906 | hp1 | a0001 | c0001 | t0009 | g0257 | AFR | YRI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18906 | hp2 | a0001 | c0029 | t0007 | g0246 | AFR | YRI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0038 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18942 | hp2 | a0003 | c0003 | t0004 | g0295 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18943 | hp2 | a0002 | c0002 | t0001 | g0221 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18944 | hp1 | a0002 | c0002 | t0001 | g0220 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18944 | hp2 | a0002 | c0002 | t0001 | g0084 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18945 | hp1 | a0009 | c0012 | t0005 | g0210 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18945 | hp2 | a0002 | c0005 | t0001 | g0008 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18946 | hp1 | a0002 | c0002 | t0001 | g0203 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18946 | hp2 | a0003 | c0003 | t0005 | g0170 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18948 | hp1 | a0003 | c0003 | t0004 | g0261 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18948 | hp2 | a0002 | c0002 | t0002 | g0316 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18949 | hp1 | a0002 | c0002 | t0001 | g0212 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18949 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18951 | hp1 | a0001 | c0006 | t0006 | g0290 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18951 | hp2 | a0002 | c0002 | t0001 | g0199 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18952 | hp1 | a0002 | c0002 | t0001 | g0080 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18952 | hp2 | a0001 | c0001 | t0003 | g0009 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18953 | hp1 | a0001 | c0001 | t0003 | g0108 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18953 | hp2 | a0001 | c0001 | t0002 | g0268 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18954 | hp1 | a0002 | c0002 | t0001 | g0234 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18954 | hp2 | a0016 | c0016 | t0002 | g0264 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18956 | hp1 | a0003 | c0003 | t0005 | g0090 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18956 | hp2 | a0002 | c0002 | t0001 | g0173 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18957 | hp1 | a0002 | c0002 | t0003 | g0172 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0096 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18962 | hp1 | a0002 | c0002 | t0003 | g0142 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18963 | hp1 | a0002 | c0002 | t0001 | g0146 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18963 | hp2 | a0003 | c0003 | t0004 | g0058 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18965 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18965 | hp2 | a0003 | c0008 | t0004 | g0001 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18966 | hp1 | a0001 | c0001 | t0003 | g0230 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18966 | hp2 | a0002 | c0002 | t0002 | g0309 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18968 | hp1 | a0002 | c0002 | t0003 | g0190 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18968 | hp2 | a0001 | c0001 | t0002 | g0262 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18971 | hp1 | a0001 | c0001 | t0003 | g0227 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18971 | hp2 | a0002 | c0002 | t0001 | g0185 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18972 | hp1 | a0001 | c0001 | t0006 | g0289 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18972 | hp2 | a0001 | c0001 | t0002 | g0260 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18973 | hp1 | a0002 | c0002 | t0001 | g0214 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18973 | hp2 | a0001 | c0001 | t0003 | g0091 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18974 | hp1 | a0001 | c0001 | t0006 | g0027 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18975 | hp1 | a0001 | c0001 | t0006 | g0267 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18975 | hp2 | a0002 | c0002 | t0002 | g0317 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18977 | hp1 | a0002 | c0002 | t0001 | g0196 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18977 | hp2 | a0001 | c0001 | t0003 | g0095 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18978 | hp1 | a0002 | c0002 | t0001 | g0191 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18978 | hp2 | a0003 | c0003 | t0004 | g0047 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18979 | hp1 | a0003 | c0003 | t0004 | g0270 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0228 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18981 | hp1 | a0002 | c0002 | t0001 | g0186 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18981 | hp2 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18982 | hp1 | a0001 | c0006 | t0006 | g0020 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18982 | hp2 | a0002 | c0002 | t0001 | g0197 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18983 | hp1 | a0003 | c0003 | t0004 | g0258 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18983 | hp2 | a0001 | c0001 | t0003 | g0085 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18990 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18990 | hp2 | a0003 | c0003 | t0005 | g0081 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18991 | hp1 | a0001 | c0001 | t0003 | g0110 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18991 | hp2 | a0002 | c0002 | t0001 | g0167 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18992 | hp1 | a0002 | c0002 | t0001 | g0202 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18992 | hp2 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18994 | hp1 | a0001 | c0001 | t0002 | g0030 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18994 | hp2 | a0004 | c0004 | t0005 | g0218 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18995 | hp2 | a0003 | c0003 | t0004 | g0265 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18998 | hp1 | a0002 | c0005 | t0003 | g0184 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA18998 | hp2 | a0002 | c0002 | t0003 | g0193 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19001 | hp1 | a0002 | c0002 | t0003 | g0121 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19001 | hp2 | a0003 | c0008 | t0004 | g0001 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19004 | hp1 | a0003 | c0003 | t0004 | g0029 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19004 | hp2 | a0003 | c0003 | t0004 | g0068 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19005 | hp1 | a0003 | c0003 | t0004 | g0026 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19005 | hp2 | a0002 | c0005 | t0001 | g0192 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19007 | hp1 | a0002 | c0002 | t0001 | g0204 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19007 | hp2 | a0001 | c0001 | t0003 | g0229 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19009 | hp1 | a0002 | c0002 | t0003 | g0216 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19009 | hp2 | a0001 | c0001 | t0002 | g0037 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19010 | hp1 | a0002 | c0002 | t0001 | g0188 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19010 | hp2 | a0001 | c0001 | t0003 | g0114 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19030 | hp1 | a0006 | c0011 | t0001 | g0010 | AFR | LWK | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19030 | hp2 | a0002 | c0005 | t0006 | g0079 | AFR | LWK | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19043 | hp1 | a0017 | c0026 | t0006 | g0253 | AFR | LWK | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19043 | hp2 | a0002 | c0005 | t0003 | g0136 | AFR | LWK | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19054 | hp1 | a0001 | c0006 | t0001 | g0119 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19054 | hp2 | a0001 | c0006 | t0006 | g0288 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19056 | hp1 | a0002 | c0002 | t0005 | g0174 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19056 | hp2 | a0002 | c0002 | t0001 | g0208 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19058 | hp1 | a0002 | c0002 | t0001 | g0219 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19058 | hp2 | a0001 | c0001 | t0003 | g0164 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19060 | hp1 | a0002 | c0002 | t0002 | g0308 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19060 | hp2 | a0001 | c0001 | t0003 | g0093 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19064 | hp1 | a0002 | c0002 | t0003 | g0019 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19064 | hp2 | a0001 | c0001 | t0003 | g0231 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19067 | hp2 | a0009 | c0012 | t0005 | g0211 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19068 | hp1 | a0001 | c0001 | t0006 | g0269 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19068 | hp2 | a0002 | c0002 | t0002 | g0324 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19072 | hp1 | a0003 | c0003 | t0004 | g0296 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19072 | hp2 | a0002 | c0002 | t0001 | g0179 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19076 | hp1 | a0001 | c0001 | t0002 | g0287 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19076 | hp2 | a0002 | c0002 | t0001 | g0209 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0097 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19077 | hp2 | a0004 | c0004 | t0005 | g0194 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19082 | hp1 | a0002 | c0002 | t0001 | g0006 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19082 | hp2 | a0001 | c0001 | t0003 | g0094 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19084 | hp1 | a0002 | c0005 | t0001 | g0008 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19084 | hp2 | a0001 | c0001 | t0002 | g0069 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19087 | hp1 | a0001 | c0001 | t0006 | g0045 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19087 | hp2 | a0002 | c0002 | t0003 | g0215 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19088 | hp1 | a0002 | c0002 | t0001 | g0217 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19088 | hp2 | a0001 | c0001 | t0003 | g0009 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19090 | hp1 | a0001 | c0001 | t0002 | g0263 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19090 | hp2 | a0003 | c0003 | t0004 | g0044 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19091 | hp1 | a0003 | c0025 | t0004 | g0266 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19091 | hp2 | a0002 | c0002 | t0001 | g0187 | EAS | JPT | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19240 | hp1 | a0001 | c0001 | t0009 | g0276 | AFR | YRI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA19240 | hp2 | a0001 | c0001 | t0006 | g0327 | AFR | YRI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20129 | hp1 | a0001 | c0001 | t0023 | g0083 | AFR | ASW | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20129 | hp2 | a0001 | c0001 | t0014 | g0157 | AFR | ASW | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20805 | hp1 | a0001 | c0001 | t0010 | g0052 | EUR | TSI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20805 | hp2 | a0002 | c0002 | t0011 | g0178 | EUR | TSI | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20905 | hp1 | a0001 | c0001 | t0029 | g0274 | SAS | GIH | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20905 | hp2 | a0003 | c0003 | t0005 | g0087 | SAS | GIH | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02109 | hp1 | a0003 | c0003 | t0002 | g0021 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02109 | hp2 | a0001 | c0001 | t0028 | g0239 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02486 | hp1 | a0003 | c0003 | t0027 | g0238 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02486 | hp2 | a0001 | c0001 | t0010 | g0286 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02559 | hp1 | a0008 | c0014 | t0007 | g0066 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG02559 | hp2 | a0004 | c0004 | t0005 | g0155 | AFR | ACB | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03471 | hp1 | a0001 | c0001 | t0008 | g0123 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG03471 | hp2 | a0002 | c0002 | t0003 | g0139 | AFR | MSL | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG06807 | hp1 | a0001 | c0001 | t0007 | g0017 | AFR | USA | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| HG06807 | hp2 | a0001 | c0001 | t0006 | g0280 | AFR | USA | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20300 | hp1 | a0004 | c0004 | t0005 | g0223 | AFR | USA | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA20300 | hp2 | a0001 | c0001 | t0003 | g0128 | AFR | USA | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA21309 | hp1 | a0001 | c0032 | t0026 | g0015 | AFR | LWK | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| NA21309 | hp2 | a0003 | c0003 | t0002 | g0064 | AFR | LWK | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0013 | g0033 | REF | REF | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| homoSapiens | grch38p0 | a0002 | c0002 | t0001 | g0141 | REF | REF | CPS1_chr2_210551599_210684107 | CPS1 | chr2 | 210551599 | 210684107 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:210576411 | T | C | 1 | a0016 | 1 | NA18954.hp2 | missense_variant | MODERATE | c.302T>C | p.Ile101Thr | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/38 | 437/5760 | 302/4503 | 101/1500 | chr2 | 210576411 | |||
| chr2:210577488 | G | A | 1 | a0012 | 1 | HG02015.hp2 | missense_variant | MODERATE | c.449G>A | p.Gly150Glu | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/38 | 584/5760 | 449/4503 | 150/1500 | chr2 | 210577488 | |||
| chr2:210591901 | G | A | 1 | a0013 | 1 | HG02523.hp1 | missense_variant | MODERATE | c.1018G>A | p.Ala340Thr | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/38 | 1153/5760 | 1018/4503 | 340/1500 | chr2 | 210591901 | |||
| chr2:210591913 | A | G | 9 | a0001 a0003 a0006 others(6): Show |
197 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(194): Show |
missense_variant | MODERATE | c.1030A>G | p.Thr344Ala | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/38 | 1165/5760 | 1030/4503 | 344/1500 | chr2 | 210591913 | |||
| chr2:210591913 | A | T | 2 | a0001 a0003 |
3 | HG03041.hp1 HG03225.hp1 NA21309.hp1 |
missense_variant | MODERATE | c.1030A>T | p.Thr344Ser | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/38 | 1165/5760 | 1030/4503 | 344/1500 | chr2 | 210591913 | |||
| chr2:210594557 | C | A | 1 | a0008 | 2 | HG02258.hp1 HG02559.hp1 |
missense_variant | MODERATE | c.1214C>A | p.Thr405Asn | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 12/38 | 1349/5760 | 1214/4503 | 405/1500 | chr2 | 210594557 | |||
| chr2:210600635 | A | T | 2 | a0014 a0015 |
2 | HG02809.hp1 HG02818.hp1 |
missense_variant | MODERATE | c.1630A>T | p.Thr544Ser | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/38 | 1765/5760 | 1630/4503 | 544/1500 | chr2 | 210600635 | |||
| chr2:210637785 | C | G | 1 | a0009 | 2 | NA18945.hp1 NA19067.hp2 |
missense_variant | MODERATE | c.2771C>G | p.Thr924Ser | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/38 | 2906/5760 | 2771/4503 | 924/1500 | chr2 | 210637785 | |||
| chr2:210648491 | G | A | 3 | a0005 a0006 a0017 |
7 | HG02280.hp2 HG02717.hp2 HG02922.hp2 others(4): Show |
missense_variant | MODERATE | c.3355G>A | p.Ala1119Thr | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/38 | 3490/5760 | 3355/4503 | 1119/1500 | chr2 | 210648491 | |||
| chr2:210674926 | G | A | 2 | a0007 a0010 |
3 | HG00741.hp2 HG01168.hp1 HG01257.hp1 |
missense_variant | MODERATE | c.4126G>A | p.Gly1376Ser | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 35/38 | 4261/5760 | 4126/4503 | 1376/1500 | chr2 | 210674926 | |||
| chr2:210675783 | C | A | 6 | a0003 a0004 a0006 others(3): Show |
102 | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(99): Show |
missense_variant | MODERATE | c.4217C>A | p.Thr1406Asn | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/38 | 4352/5760 | 4217/4503 | 1406/1500 | chr2 | 210675783 | |||
| chr2:210677939 | A | G | 1 | a0011 | 1 | HG01258.hp2 | missense_variant | MODERATE | c.4457A>G | p.Lys1486Arg | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 4592/5760 | 4457/4503 | 1486/1500 | chr2 | 210677939 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:210577510 | G | A | 1 | a0003c0018 | 1 | HG02572.hp1 | splice_region_variant&synonymous_variant | LOW | c.471G>A | p.Lys157Lys | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/38 | 606/5760 | 471/4503 | 157/1500 | chr2 | 210577510 | |||
| chr2:210591915 | C | T | 19 | a0001c0001 a0001c0006 a0001c0024 others(16): Show |
200 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(197): Show |
synonymous_variant | LOW | c.1032C>T | p.Thr344Thr | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/38 | 1167/5760 | 1032/4503 | 344/1500 | chr2 | 210591915 | |||
| chr2:210591951 | C | G | 2 | a0002c0009 a0002c0013 |
6 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(3): Show |
synonymous_variant | LOW | c.1068C>G | p.Val356Val | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/38 | 1203/5760 | 1068/4503 | 356/1500 | chr2 | 210591951 | |||
| chr2:210608433 | C | A | 1 | a0001c0024 | 1 | HG01433.hp1 | synonymous_variant | LOW | c.2265C>A | p.Ser755Ser | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/38 | 2400/5760 | 2265/4503 | 755/1500 | chr2 | 210608433 | |||
| chr2:210608433 | C | T | 2 | a0002c0009 a0002c0021 |
5 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(2): Show |
synonymous_variant | LOW | c.2265C>T | p.Ser755Ser | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/38 | 2400/5760 | 2265/4503 | 755/1500 | chr2 | 210608433 | |||
| chr2:210612119 | C | A | 1 | a0002c0009 | 4 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show |
splice_region_variant&synonymous_variant | LOW | c.2394C>A | p.Val798Val | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/38 | 2529/5760 | 2394/4503 | 798/1500 | chr2 | 210612119 | |||
| chr2:210616533 | C | G | 22 | a0001c0001 a0001c0028 a0001c0029 others(19): Show |
214 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(211): Show |
synonymous_variant | LOW | c.2679C>G | p.Gly893Gly | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/38 | 2814/5760 | 2679/4503 | 893/1500 | chr2 | 210616533 | |||
| chr2:210637747 | G | A | 1 | a0003c0025 | 1 | NA19091.hp1 | synonymous_variant | LOW | c.2733G>A | p.Gly911Gly | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/38 | 2868/5760 | 2733/4503 | 911/1500 | chr2 | 210637747 | |||
| chr2:210642557 | G | C | 1 | a0001c0030 | 1 | HG03041.hp1 | synonymous_variant | LOW | c.3033G>C | p.Val1011Val | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/38 | 3168/5760 | 3033/4503 | 1011/1500 | chr2 | 210642557 | |||
| chr2:210668272 | G | T | 1 | a0001c0029 | 1 | NA18906.hp2 | synonymous_variant | LOW | c.4089G>T | p.Leu1363Leu | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/38 | 4224/5760 | 4089/4503 | 1363/1500 | chr2 | 210668272 | |||
| chr2:210675826 | C | G | 1 | a0001c0028 | 1 | HG02451.hp1 | synonymous_variant | LOW | c.4260C>G | p.Leu1420Leu | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/38 | 4395/5760 | 4260/4503 | 1420/1500 | chr2 | 210675826 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:210556705 | T | G | 3 | a0001c0001t0018 a0001c0001t0019 a0007c0015t0020 |
3 | HG01168.hp1 HG01261.hp1 HG03831.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-29T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/38 | chr2 | 210556705 | |||||||
| chr2:210556728 | A | ATCT | 46 | a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(43): Show |
163 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(160): Show |
5_prime_UTR_variant | MODIFIER | c.-4_-3insTTC | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/38 | 3 | INFO_REALIGN_3_PRIME | chr2 | 210556728 | |||||
| chr2:210678299 | T | A | 1 | a0001c0028t0024 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*314T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 314 | chr2 | 210678299 | ||||||
| chr2:210678331 | T | C | 14 | a0001c0001t0016 a0002c0002t0005 a0003c0003t0004 others(11): Show |
84 | HG00408.hp1 HG00438.hp1 HG00609.hp1 others(81): Show |
3_prime_UTR_variant | MODIFIER | c.*346T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 346 | chr2 | 210678331 | ||||||
| chr2:210678365 | C | G | 11 | a0001c0001t0010 a0001c0001t0011 a0001c0001t0023 others(8): Show |
17 | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*380C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 380 | chr2 | 210678365 | ||||||
| chr2:210678423 | T | G | 33 | a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 others(30): Show |
66 | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(63): Show |
3_prime_UTR_variant | MODIFIER | c.*438T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 438 | chr2 | 210678423 | ||||||
| chr2:210678585 | CTTTTCTT others(5): Show |
C | 1 | a0003c0003t0027 | 1 | HG02486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*611_*622delCTTTTT others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 611 | INFO_REALIGN_3_PRIME | chr2 | 210678585 | |||||
| chr2:210678643 | A | G | 2 | a0001c0001t0029 a0002c0002t0015 |
3 | HG03831.hp1 HG03834.hp2 NA20905.hp1 |
3_prime_UTR_variant | MODIFIER | c.*658A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 658 | chr2 | 210678643 | ||||||
| chr2:210678677 | C | G | 16 | a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(13): Show |
75 | HG00140.hp2 HG00597.hp1 HG00609.hp2 others(72): Show |
3_prime_UTR_variant | MODIFIER | c.*692C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 692 | chr2 | 210678677 | ||||||
| chr2:210678739 | T | G | 5 | a0001c0001t0009 a0001c0001t0014 a0001c0001t0029 others(2): Show |
13 | HG01243.hp2 HG02145.hp1 HG02280.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*754T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 754 | chr2 | 210678739 | ||||||
| chr2:210678814 | T | C | 4 | a0001c0001t0017 a0001c0024t0017 a0002c0002t0012 others(1): Show |
5 | HG00733.hp2 HG00735.hp2 HG01106.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*829T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 829 | chr2 | 210678814 | ||||||
| chr2:210678834 | A | G | 1 | a0001c0032t0026 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*849A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 849 | chr2 | 210678834 | ||||||
| chr2:210678931 | C | T | 2 | a0001c0001t0025 a0002c0002t0021 |
2 | HG01496.hp2 HG02293.hp1 |
3_prime_UTR_variant | MODIFIER | c.*946C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 38/38 | 946 | chr2 | 210678931 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:210556983 | G | A | 6 | a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0032t0026g0015 others(3): Show |
6 | HG01884.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.126+124G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210556983 | |||||||
| chr2:210557143 | T | C | 1 | a0002c0002t0003g0019 | 1 | NA19064.hp1 | intron_variant | MODIFIER | c.126+284T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210557143 | |||||||
| chr2:210557180 | T | G | 1 | a0001c0006t0006g0020 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.126+321T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210557180 | |||||||
| chr2:210557609 | A | C | 93 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(90): Show |
98 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.126+750A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210557609 | |||||||
| chr2:210557736 | T | C | 4 | a0003c0003t0002g0021 a0004c0004t0004g0024 a0014c0023t0006g0023 others(1): Show |
4 | HG02109.hp1 HG02809.hp1 HG02818.hp1 others(1): Show |
intron_variant | MODIFIER | c.126+877T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210557736 | |||||||
| chr2:210557821 | G | T | 4 | a0001c0001t0028g0239 a0003c0003t0002g0236 a0003c0003t0002g0237 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.126+962G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210557821 | |||||||
| chr2:210557925 | T | C | 1 | a0002c0002t0002g0240 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.126+1066T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210557925 | |||||||
| chr2:210558080 | A | G | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.126+1221A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210558080 | |||||||
| chr2:210558362 | A | G | 3 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0003c0003t0004g0326 |
3 | HG02630.hp1 HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.126+1503A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210558362 | |||||||
| chr2:210558632 | T | C | 1 | a0001c0001t0006g0241 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.126+1773T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210558632 | |||||||
| chr2:210558659 | C | T | 81 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(78): Show |
85 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(82): Show |
intron_variant | MODIFIER | c.126+1800C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210558659 | |||||||
| chr2:210559010 | C | T | 1 | a0002c0002t0001g0234 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.126+2151C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559010 | |||||||
| chr2:210559053 | G | A | 47 | a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0038 others(44): Show |
47 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.126+2194G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559053 | |||||||
| chr2:210559148 | C | A | 6 | a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0032t0026g0015 others(3): Show |
6 | HG01884.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.126+2289C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559148 | |||||||
| chr2:210559402 | G | A | 1 | a0003c0003t0004g0025 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.126+2543G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559402 | |||||||
| chr2:210559409 | T | C | 1 | a0002c0002t0003g0002 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.126+2550T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559409 | |||||||
| chr2:210559654 | A | G | 1 | a0002c0005t0008g0233 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.126+2795A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559654 | |||||||
| chr2:210559674 | G | A | 158 | a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0037 others(155): Show |
162 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(159): Show |
intron_variant | MODIFIER | c.126+2815G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559674 | |||||||
| chr2:210559725 | C | G | 3 | a0001c0001t0002g0072 a0001c0001t0007g0070 a0001c0028t0024g0071 |
3 | HG02451.hp1 HG02622.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.126+2866C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559725 | |||||||
| chr2:210559801 | A | G | 1 | a0002c0002t0021g0232 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.126+2942A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559801 | |||||||
| chr2:210559989 | G | A | 1 | a0002c0002t0001g0080 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.126+3130G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210559989 | |||||||
| chr2:210560013 | A | G | 1 | a0002c0002t0002g0324 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.126+3154A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560013 | |||||||
| chr2:210560109 | A | G | 3 | a0001c0001t0002g0067 a0001c0001t0002g0069 a0003c0003t0004g0068 |
3 | NA18992.hp2 NA19004.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.126+3250A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560109 | |||||||
| chr2:210560138 | A | C | 6 | a0001c0001t0001g0228 a0001c0001t0003g0009 a0001c0001t0003g0227 others(3): Show |
7 | NA18952.hp2 NA18966.hp1 NA18971.hp1 others(4): Show |
intron_variant | MODIFIER | c.126+3279A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560138 | |||||||
| chr2:210560148 | A | G | 1 | a0001c0001t0016g0323 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.126+3289A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560148 | |||||||
| chr2:210560156 | T | C | 44 | a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0038 others(41): Show |
44 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(41): Show |
intron_variant | MODIFIER | c.126+3297T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560156 | |||||||
| chr2:210560482 | G | A | 6 | a0001c0030t0007g0077 a0002c0009t0006g0076 a0002c0009t0006g0078 others(3): Show |
6 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.126+3623G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560482 | |||||||
| chr2:210560497 | T | G | 3 | a0003c0003t0002g0021 a0014c0023t0006g0023 a0015c0022t0002g0022 |
3 | HG02109.hp1 HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.126+3638T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560497 | |||||||
| chr2:210560912 | C | T | 2 | a0001c0001t0007g0017 a0003c0031t0002g0018 |
2 | HG03225.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.126+4053C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560912 | |||||||
| chr2:210560934 | A | G | 1 | a0004c0007t0005g0226 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.126+4075A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210560934 | |||||||
| chr2:210561134 | G | A | 2 | a0003c0003t0005g0081 a0003c0003t0005g0082 |
2 | HG00438.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.126+4275G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210561134 | |||||||
| chr2:210561236 | A | G | 6 | a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0032t0026g0015 others(3): Show |
6 | HG01884.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.126+4377A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210561236 | |||||||
| chr2:210561241 | G | A | 3 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0003c0003t0004g0326 |
3 | HG02630.hp1 HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.126+4382G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210561241 | |||||||
| chr2:210561836 | T | G | 6 | a0001c0030t0007g0077 a0002c0009t0006g0076 a0002c0009t0006g0078 others(3): Show |
6 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.126+4977T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210561836 | |||||||
| chr2:210561936 | A | G | 92 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(89): Show |
97 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(94): Show |
intron_variant | MODIFIER | c.126+5077A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210561936 | |||||||
| chr2:210561983 | A | G | 2 | a0014c0023t0006g0023 a0015c0022t0002g0022 |
2 | HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.126+5124A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210561983 | |||||||
| chr2:210562250 | A | G | 65 | a0002c0002t0001g0006 a0002c0002t0001g0080 a0002c0002t0001g0167 others(62): Show |
68 | HG00323.hp2 HG00438.hp2 HG00621.hp2 others(65): Show |
intron_variant | MODIFIER | c.126+5391A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562250 | |||||||
| chr2:210562298 | C | T | 3 | a0002c0002t0001g0225 a0004c0004t0005g0223 a0004c0004t0005g0224 |
3 | HG01361.hp1 HG04184.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.126+5439C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562298 | |||||||
| chr2:210562380 | T | G | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.126+5521T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562380 | |||||||
| chr2:210562403 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.126+5544G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562403 | |||||||
| chr2:210562429 | T | G | 1 | a0001c0001t0007g0250 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.126+5570T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562429 | |||||||
| chr2:210562517 | A | G | 82 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(79): Show |
86 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(83): Show |
intron_variant | MODIFIER | c.126+5658A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562517 | |||||||
| chr2:210562547 | A | G | 1 | a0002c0002t0001g0165 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.126+5688A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562547 | |||||||
| chr2:210562683 | A | C | 2 | a0001c0001t0001g0163 a0001c0001t0003g0164 |
2 | NA18981.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.126+5824A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562683 | |||||||
| chr2:210562852 | C | T | 147 | a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0037 others(144): Show |
151 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(148): Show |
intron_variant | MODIFIER | c.126+5993C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562852 | |||||||
| chr2:210562868 | G | GT | 9 | a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0003g0164 others(6): Show |
10 | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.126+6024dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210562868 | ||||||
| chr2:210562868 | GT | G | 144 | a0001c0001t0002g0011 a0001c0001t0002g0030 a0001c0001t0002g0037 others(141): Show |
148 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(145): Show |
intron_variant | MODIFIER | c.126+6024delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210562868 | ||||||
| chr2:210562868 | GTT | G | 7 | a0001c0001t0007g0254 a0001c0001t0009g0257 a0003c0003t0002g0252 others(4): Show |
7 | HG02145.hp2 HG02280.hp1 HG02615.hp1 others(4): Show |
intron_variant | MODIFIER | c.126+6023_126+6024d others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210562868 | ||||||
| chr2:210562949 | G | A | 3 | a0003c0003t0002g0021 a0014c0023t0006g0023 a0015c0022t0002g0022 |
3 | HG02109.hp1 HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.126+6090G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210562949 | |||||||
| chr2:210563040 | T | C | 3 | a0001c0001t0001g0158 a0001c0001t0003g0085 a0002c0002t0001g0084 |
3 | NA18944.hp2 NA18949.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.126+6181T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563040 | |||||||
| chr2:210563190 | G | A | 1 | a0004c0004t0005g0086 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.126+6331G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563190 | |||||||
| chr2:210563382 | G | C | 2 | a0002c0002t0001g0167 a0002c0002t0001g0168 |
2 | NA18612.hp2 NA18991.hp2 |
intron_variant | MODIFIER | c.126+6523G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563382 | |||||||
| chr2:210563388 | T | C | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.126+6529T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563388 | |||||||
| chr2:210563475 | G | A | 5 | a0001c0001t0009g0242 a0001c0001t0028g0239 a0003c0003t0002g0236 others(2): Show |
5 | HG02109.hp2 HG02486.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.126+6616G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563475 | |||||||
| chr2:210563630 | T | G | 47 | a0001c0001t0002g0030 a0001c0001t0002g0037 a0001c0001t0002g0038 others(44): Show |
47 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.126+6771T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563630 | |||||||
| chr2:210563673 | T | C | 6 | a0001c0001t0007g0016 a0001c0001t0007g0017 a0001c0032t0026g0015 others(3): Show |
6 | HG01884.hp2 HG02895.hp2 HG02897.hp2 others(3): Show |
intron_variant | MODIFIER | c.126+6814T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563673 | |||||||
| chr2:210563697 | A | G | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.126+6838A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210563697 | |||||||
| chr2:210564100 | C | CCCTAAAA others(41): Show |
1 | a0002c0002t0002g0324 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.126+7243_126+7244i others(50): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210564100 | ||||||
| chr2:210564125 | AGAAATTT others(41): Show |
A | 1 | a0002c0002t0002g0324 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.126+7267_126+7314d others(50): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564125 | |||||||
| chr2:210564174 | T | A | 1 | a0004c0004t0005g0169 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.126+7315T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564174 | |||||||
| chr2:210564401 | A | C | 6 | a0001c0030t0007g0077 a0002c0009t0006g0076 a0002c0009t0006g0078 others(3): Show |
6 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.126+7542A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564401 | |||||||
| chr2:210564458 | G | C | 1 | a0003c0003t0004g0026 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.126+7599G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564458 | |||||||
| chr2:210564520 | T | C | 1 | a0003c0003t0005g0087 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.126+7661T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564520 | |||||||
| chr2:210564524 | T | C | 1 | a0003c0003t0005g0087 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.126+7665T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564524 | |||||||
| chr2:210564608 | C | T | 5 | a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 others(2): Show |
5 | HG00621.hp1 NA18944.hp1 NA18994.hp2 others(2): Show |
intron_variant | MODIFIER | c.126+7749C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564608 | |||||||
| chr2:210564623 | G | A | 1 | a0002c0002t0015g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.126+7764G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564623 | |||||||
| chr2:210564710 | G | C | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.126+7851G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564710 | |||||||
| chr2:210564791 | G | A | 212 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(209): Show |
218 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(215): Show |
intron_variant | MODIFIER | c.126+7932G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210564791 | |||||||
| chr2:210565011 | AATAAAAA others(9): Show |
A | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.126+8154_126+8169d others(18): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210565011 | ||||||
| chr2:210565015 | A | AAAAT | 8 | a0001c0001t0007g0017 a0001c0032t0026g0015 a0003c0003t0002g0021 others(5): Show |
8 | HG02109.hp1 HG02809.hp1 HG02818.hp1 others(5): Show |
intron_variant | MODIFIER | c.126+8172_126+8175d others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210565015 | ||||||
| chr2:210565236 | T | G | 206 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(203): Show |
213 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.127-8062T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565236 | |||||||
| chr2:210565268 | C | T | 134 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(131): Show |
140 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(137): Show |
intron_variant | MODIFIER | c.127-8030C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565268 | |||||||
| chr2:210565272 | G | C | 1 | a0002c0005t0003g0136 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.127-8026G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565272 | |||||||
| chr2:210565379 | G | C | 210 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(207): Show |
218 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.127-7919G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565379 | |||||||
| chr2:210565381 | G | A | 20 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(17): Show |
21 | HG00558.hp1 HG00609.hp2 HG01346.hp2 others(18): Show |
intron_variant | MODIFIER | c.127-7917G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565381 | |||||||
| chr2:210565439 | T | C | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.127-7859T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565439 | |||||||
| chr2:210565456 | G | A | 2 | a0001c0001t0008g0123 a0003c0003t0005g0122 |
2 | HG03471.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.127-7842G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565456 | |||||||
| chr2:210565589 | T | G | 1 | a0003c0003t0004g0275 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.127-7709T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565589 | |||||||
| chr2:210565609 | G | A | 204 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(201): Show |
211 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(208): Show |
intron_variant | MODIFIER | c.127-7689G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565609 | |||||||
| chr2:210565616 | C | T | 4 | a0001c0001t0009g0242 a0001c0001t0028g0239 a0003c0003t0002g0237 others(1): Show |
4 | HG02109.hp2 HG02486.hp1 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.127-7682C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565616 | |||||||
| chr2:210565631 | T | C | 1 | a0003c0003t0005g0170 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.127-7667T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565631 | |||||||
| chr2:210565736 | G | T | 4 | a0001c0001t0003g0133 a0001c0001t0003g0135 a0003c0003t0005g0087 others(1): Show |
4 | HG00140.hp2 HG01257.hp1 HG01891.hp1 others(1): Show |
intron_variant | MODIFIER | c.127-7562G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565736 | |||||||
| chr2:210565983 | A | G | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.127-7315A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210565983 | |||||||
| chr2:210566010 | A | T | 2 | a0001c0001t0003g0132 a0003c0003t0001g0131 |
2 | HG01109.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.127-7288A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566010 | |||||||
| chr2:210566036 | T | C | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.127-7262T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566036 | |||||||
| chr2:210566060 | T | C | 1 | a0001c0001t0007g0070 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.127-7238T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566060 | |||||||
| chr2:210566258 | C | T | 2 | a0002c0002t0003g0215 a0002c0002t0003g0216 |
2 | NA19009.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.127-7040C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566258 | |||||||
| chr2:210566278 | G | T | 1 | a0002c0002t0001g0214 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.127-7020G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566278 | |||||||
| chr2:210566283 | G | T | 61 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(58): Show |
62 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(59): Show |
intron_variant | MODIFIER | c.127-7015G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566283 | |||||||
| chr2:210566314 | G | T | 52 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(49): Show |
53 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(50): Show |
intron_variant | MODIFIER | c.127-6984G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566314 | |||||||
| chr2:210566350 | C | T | 55 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(52): Show |
59 | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.127-6948C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566350 | |||||||
| chr2:210566670 | C | T | 3 | a0001c0001t0029g0274 a0001c0006t0006g0272 a0003c0008t0004g0273 |
3 | HG02738.hp2 HG04199.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.127-6628C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566670 | |||||||
| chr2:210566773 | G | C | 63 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(60): Show |
64 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(61): Show |
intron_variant | MODIFIER | c.127-6525G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566773 | |||||||
| chr2:210566876 | C | T | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.127-6422C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566876 | |||||||
| chr2:210566959 | G | A | 1 | a0001c0001t0001g0089 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.127-6339G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210566959 | |||||||
| chr2:210567153 | G | A | 51 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(48): Show |
52 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(49): Show |
intron_variant | MODIFIER | c.127-6145G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567153 | |||||||
| chr2:210567176 | T | C | 1 | a0005c0010t0014g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.127-6122T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567176 | |||||||
| chr2:210567196 | A | T | 1 | a0001c0006t0001g0119 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.127-6102A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567196 | |||||||
| chr2:210567285 | T | G | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.127-6013T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567285 | |||||||
| chr2:210567500 | A | G | 1 | a0001c0001t0014g0157 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.127-5798A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567500 | |||||||
| chr2:210567553 | T | C | 1 | a0001c0001t0013g0032 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.127-5745T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567553 | |||||||
| chr2:210567614 | G | A | 135 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(132): Show |
141 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(138): Show |
intron_variant | MODIFIER | c.127-5684G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567614 | |||||||
| chr2:210567892 | G | A | 1 | a0002c0005t0012g0171 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.127-5406G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567892 | |||||||
| chr2:210567955 | A | G | 35 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(32): Show |
38 | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.127-5343A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567955 | |||||||
| chr2:210567982 | C | T | 1 | a0004c0007t0001g0156 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.127-5316C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210567982 | |||||||
| chr2:210568017 | C | T | 1 | a0004c0004t0005g0155 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.127-5281C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210568017 | |||||||
| chr2:210568355 | T | C | 1 | a0003c0003t0004g0259 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.127-4943T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210568355 | |||||||
| chr2:210568459 | G | A | 1 | a0003c0003t0004g0251 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.127-4839G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210568459 | |||||||
| chr2:210568521 | G | A | 2 | a0003c0003t0002g0236 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.127-4777G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210568521 | |||||||
| chr2:210568547 | T | C | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.127-4751T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210568547 | |||||||
| chr2:210568750 | G | A | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.127-4548G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210568750 | |||||||
| chr2:210568973 | A | G | 7 | a0001c0001t0007g0061 a0001c0001t0007g0301 a0001c0001t0007g0302 others(4): Show |
7 | HG00140.hp1 HG00323.hp1 HG01167.hp2 others(4): Show |
intron_variant | MODIFIER | c.127-4325A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210568973 | |||||||
| chr2:210569014 | A | G | 138 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(135): Show |
144 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show |
intron_variant | MODIFIER | c.127-4284A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210569014 | |||||||
| chr2:210569066 | A | G | 201 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(198): Show |
208 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(205): Show |
intron_variant | MODIFIER | c.127-4232A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210569066 | |||||||
| chr2:210569114 | G | C | 5 | a0001c0001t0007g0245 a0001c0001t0009g0243 a0001c0001t0009g0244 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.127-4184G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210569114 | |||||||
| chr2:210569120 | G | A | 1 | a0004c0007t0004g0319 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.127-4178G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210569120 | |||||||
| chr2:210569594 | C | T | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.127-3704C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210569594 | |||||||
| chr2:210569927 | T | TGGACCTC others(16): Show |
9 | a0001c0030t0007g0077 a0002c0009t0003g0159 a0002c0009t0006g0076 others(6): Show |
9 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.127-3367_127-3345d others(25): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210569927 | ||||||
| chr2:210569980 | A | G | 5 | a0001c0001t0007g0245 a0001c0001t0009g0243 a0001c0001t0009g0244 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.127-3318A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210569980 | |||||||
| chr2:210570138 | T | C | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.127-3160T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570138 | |||||||
| chr2:210570285 | C | T | 1 | a0001c0001t0009g0257 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.127-3013C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570285 | |||||||
| chr2:210570294 | A | G | 2 | a0002c0002t0003g0215 a0002c0002t0003g0216 |
2 | NA19009.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.127-3004A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570294 | |||||||
| chr2:210570307 | C | T | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.127-2991C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570307 | |||||||
| chr2:210570597 | A | G | 2 | a0003c0003t0002g0236 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.127-2701A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570597 | |||||||
| chr2:210570755 | AC | A | 52 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(49): Show |
53 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.127-2542delC | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570755 | |||||||
| chr2:210570761 | T | C | 201 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(198): Show |
208 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(205): Show |
intron_variant | MODIFIER | c.127-2537T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570761 | |||||||
| chr2:210570996 | T | C | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0279 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG03041.hp2 others(2): Show |
intron_variant | MODIFIER | c.127-2302T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210570996 | |||||||
| chr2:210571341 | C | T | 138 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(135): Show |
144 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show |
intron_variant | MODIFIER | c.127-1957C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210571341 | |||||||
| chr2:210571599 | C | T | 6 | a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0220 others(3): Show |
6 | HG00621.hp1 HG02109.hp1 NA18944.hp1 others(3): Show |
intron_variant | MODIFIER | c.127-1699C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210571599 | |||||||
| chr2:210571617 | T | A | 1 | a0001c0001t0002g0260 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.127-1681T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210571617 | |||||||
| chr2:210571710 | A | G | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.127-1588A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210571710 | |||||||
| chr2:210571854 | TTTGTGTG others(18): Show |
T | 1 | a0001c0001t0006g0040 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.127-1442_127-1418d others(27): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571854 | ||||||
| chr2:210571855 | T | G | 2 | a0002c0005t0008g0147 a0003c0003t0004g0044 |
2 | HG03017.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.127-1443T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210571855 | |||||||
| chr2:210571855 | T | TTG | 21 | a0002c0002t0001g0168 a0002c0002t0001g0202 a0002c0002t0001g0207 others(18): Show |
21 | HG01081.hp1 HG01257.hp2 HG01258.hp1 others(18): Show |
intron_variant | MODIFIER | c.127-1389_127-1388d others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | T | TTGTG | 9 | a0002c0002t0001g0006 a0002c0002t0001g0167 a0002c0002t0001g0219 others(6): Show |
10 | HG00621.hp1 HG00738.hp1 HG01175.hp2 others(7): Show |
intron_variant | MODIFIER | c.127-1391_127-1388d others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTG | T | 15 | a0002c0002t0001g0179 a0002c0002t0001g0181 a0002c0002t0001g0187 others(12): Show |
15 | HG00621.hp2 HG01261.hp2 HG01496.hp2 others(12): Show |
intron_variant | MODIFIER | c.127-1389_127-1388d others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTG | T | 11 | a0002c0002t0001g0204 a0002c0002t0002g0309 a0002c0002t0002g0316 others(8): Show |
12 | HG00741.hp2 HG01109.hp2 HG02896.hp1 others(9): Show |
intron_variant | MODIFIER | c.127-1391_127-1388d others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTG | T | 8 | a0002c0002t0001g0195 a0002c0002t0001g0217 a0002c0002t0002g0321 others(5): Show |
8 | HG01358.hp2 HG02293.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.127-1393_127-1388d others(8): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(1): Show |
T | 8 | a0001c0001t0014g0157 a0002c0002t0001g0175 a0002c0005t0003g0148 others(5): Show |
8 | HG00323.hp2 HG01884.hp1 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.127-1395_127-1388d others(10): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(3): Show |
T | 4 | a0004c0004t0005g0152 a0004c0007t0001g0161 a0004c0007t0005g0005 others(1): Show |
5 | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.127-1397_127-1388d others(12): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(5): Show |
T | 4 | a0001c0030t0007g0077 a0002c0013t0007g0075 a0008c0014t0007g0065 others(1): Show |
4 | HG02258.hp1 HG02559.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.127-1399_127-1388d others(14): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(7): Show |
T | 7 | a0001c0001t0002g0293 a0002c0009t0003g0159 a0002c0009t0006g0076 others(4): Show |
7 | HG02135.hp2 HG02257.hp2 HG02572.hp2 others(4): Show |
intron_variant | MODIFIER | c.127-1401_127-1388d others(16): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(9): Show |
T | 5 | a0001c0001t0001g0106 a0001c0001t0003g0108 a0003c0003t0005g0117 others(2): Show |
5 | HG01168.hp2 HG01169.hp1 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.127-1403_127-1388d others(18): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(11): Show |
T | 63 | a0001c0001t0001g0089 a0001c0001t0001g0096 a0001c0001t0001g0097 others(60): Show |
63 | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(60): Show |
intron_variant | MODIFIER | c.127-1405_127-1388d others(20): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(13): Show |
T | 56 | a0001c0001t0001g0092 a0001c0001t0002g0011 a0001c0001t0002g0260 others(53): Show |
59 | HG00558.hp1 HG00597.hp2 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.127-1407_127-1388d others(22): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(15): Show |
T | 35 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0072 others(32): Show |
38 | HG01243.hp2 HG02109.hp2 HG02145.hp1 others(35): Show |
intron_variant | MODIFIER | c.127-1409_127-1388d others(24): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(19): Show |
T | 37 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(34): Show |
37 | HG00140.hp2 HG00408.hp1 HG00609.hp1 others(34): Show |
intron_variant | MODIFIER | c.127-1413_127-1388d others(28): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571855 | TTGTGTGT others(21): Show |
T | 2 | a0001c0032t0026g0015 a0003c0031t0002g0018 |
2 | HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.127-1415_127-1388d others(30): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571855 | ||||||
| chr2:210571856 | TGTGTGTG others(16): Show |
T | 1 | a0003c0003t0004g0044 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.127-1441_127-1419d others(25): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210571856 | |||||||
| chr2:210571889 | GTGTGTGT others(15): Show |
G | 1 | a0002c0002t0001g0221 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.127-1403_127-1382d others(24): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr2 | 210571889 | ||||||
| chr2:210571911 | A | G | 5 | a0002c0002t0001g0006 a0002c0002t0001g0185 a0002c0002t0001g0186 others(2): Show |
6 | NA18957.hp1 NA18971.hp2 NA18981.hp1 others(3): Show |
intron_variant | MODIFIER | c.127-1387A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210571911 | |||||||
| chr2:210572033 | A | G | 1 | a0004c0007t0005g0226 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.127-1265A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572033 | |||||||
| chr2:210572195 | A | G | 2 | a0008c0014t0007g0065 a0008c0014t0007g0066 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.127-1103A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572195 | |||||||
| chr2:210572198 | G | A | 1 | a0003c0003t0005g0090 | 1 | NA18956.hp1 | intron_variant | MODIFIER | c.127-1100G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572198 | |||||||
| chr2:210572321 | T | G | 197 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(194): Show |
204 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.127-977T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572321 | |||||||
| chr2:210572342 | A | G | 1 | a0001c0001t0003g0231 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.127-956A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572342 | |||||||
| chr2:210572394 | T | C | 1 | a0002c0005t0012g0171 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.127-904T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572394 | |||||||
| chr2:210572411 | A | C | 2 | a0002c0002t0003g0222 a0004c0004t0005g0213 |
2 | HG03239.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.127-887A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572411 | |||||||
| chr2:210572452 | G | A | 1 | a0002c0021t0002g0277 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.127-846G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572452 | |||||||
| chr2:210572481 | C | T | 1 | a0001c0006t0001g0119 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.127-817C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572481 | |||||||
| chr2:210572663 | C | G | 56 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(53): Show |
57 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.127-635C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572663 | |||||||
| chr2:210572750 | G | A | 10 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(7): Show |
10 | HG01243.hp2 HG02145.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.127-548G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572750 | |||||||
| chr2:210572773 | G | T | 1 | a0002c0002t0002g0317 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.127-525G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572773 | |||||||
| chr2:210572890 | T | C | 214 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(211): Show |
222 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(219): Show |
intron_variant | MODIFIER | c.127-408T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572890 | |||||||
| chr2:210572985 | A | G | 1 | a0001c0001t0007g0250 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.127-313A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210572985 | |||||||
| chr2:210573035 | T | G | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.127-263T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210573035 | |||||||
| chr2:210573121 | A | G | 2 | a0003c0003t0005g0117 a0003c0003t0005g0118 |
2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.127-177A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210573121 | |||||||
| chr2:210573200 | G | T | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.127-98G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210573200 | |||||||
| chr2:210573205 | T | A | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.127-93T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 1/37 | chr2 | 210573205 | |||||||
| chr2:210573422 | T | C | 1 | a0001c0001t0007g0034 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.236+15T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573422 | |||||||
| chr2:210573499 | C | T | 1 | a0013c0019t0001g0116 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.236+92C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573499 | |||||||
| chr2:210573672 | G | A | 206 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(203): Show |
213 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.236+265G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573672 | |||||||
| chr2:210573717 | A | T | 1 | a0003c0003t0002g0236 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.236+310A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573717 | |||||||
| chr2:210573749 | C | T | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.236+342C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573749 | |||||||
| chr2:210573794 | T | G | 3 | a0001c0001t0001g0163 a0001c0001t0003g0164 a0013c0019t0001g0116 |
3 | HG02523.hp1 NA18981.hp2 NA19058.hp2 |
intron_variant | MODIFIER | c.236+387T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573794 | |||||||
| chr2:210573838 | A | G | 1 | a0003c0031t0002g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.236+431A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573838 | |||||||
| chr2:210573994 | A | G | 2 | a0002c0002t0002g0321 a0004c0004t0004g0320 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.236+587A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210573994 | |||||||
| chr2:210574109 | T | A | 1 | a0003c0003t0004g0261 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.236+702T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574109 | |||||||
| chr2:210574123 | A | G | 3 | a0004c0007t0001g0161 a0004c0007t0005g0005 a0004c0007t0005g0162 |
4 | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.236+716A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574123 | |||||||
| chr2:210574162 | TGAGTTCT others(17): Show |
T | 1 | a0001c0001t0002g0287 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.236+756_236+779del others(24): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574162 | |||||||
| chr2:210574300 | A | G | 135 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(132): Show |
141 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(138): Show |
intron_variant | MODIFIER | c.236+893A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574300 | |||||||
| chr2:210574444 | C | T | 1 | a0001c0001t0010g0286 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.236+1037C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574444 | |||||||
| chr2:210574511 | A | G | 1 | a0002c0002t0003g0222 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.236+1104A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574511 | |||||||
| chr2:210574574 | C | T | 1 | a0002c0002t0001g0212 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.236+1167C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574574 | |||||||
| chr2:210574587 | T | A | 1 | a0001c0001t0002g0287 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.236+1180T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574587 | |||||||
| chr2:210574588 | A | T | 1 | a0001c0001t0002g0287 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.236+1181A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574588 | |||||||
| chr2:210574612 | A | G | 2 | a0003c0003t0002g0236 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.236+1205A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574612 | |||||||
| chr2:210574656 | G | T | 5 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 others(2): Show |
5 | HG01884.hp2 HG02258.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.236+1249G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574656 | |||||||
| chr2:210574860 | A | T | 1 | a0001c0001t0002g0287 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.236+1453A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574860 | |||||||
| chr2:210574862 | C | A | 1 | a0001c0001t0002g0287 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.236+1455C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574862 | |||||||
| chr2:210574863 | A | ATAAATTA others(5): Show |
1 | a0001c0001t0002g0287 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.236+1456_236+1457i others(14): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574863 | |||||||
| chr2:210574875 | GT | G | 205 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(202): Show |
212 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(209): Show |
intron_variant | MODIFIER | c.237-1462delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210574875 | ||||||
| chr2:210574957 | T | G | 1 | a0001c0001t0002g0287 | 1 | NA19076.hp1 | intron_variant | MODIFIER | c.237-1389T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210574957 | |||||||
| chr2:210575030 | C | T | 2 | a0004c0004t0002g0013 a0004c0004t0002g0014 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.237-1316C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210575030 | |||||||
| chr2:210575201 | G | C | 6 | a0001c0001t0003g0249 a0001c0001t0028g0239 a0003c0003t0002g0237 others(3): Show |
7 | HG02109.hp2 HG02257.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.237-1145G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210575201 | |||||||
| chr2:210575274 | G | A | 2 | a0001c0001t0007g0070 a0001c0028t0024g0071 |
2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.237-1072G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210575274 | |||||||
| chr2:210575346 | AT | A | 3 | a0002c0002t0001g0006 a0002c0002t0001g0173 a0002c0002t0003g0172 |
4 | NA18956.hp2 NA18957.hp1 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-996delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210575346 | ||||||
| chr2:210575516 | G | GCA | 128 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(125): Show |
133 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(130): Show |
intron_variant | MODIFIER | c.237-804_237-803dup others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210575516 | ||||||
| chr2:210575516 | G | GCACA | 7 | a0001c0001t0002g0287 a0001c0001t0006g0036 a0001c0006t0006g0272 others(4): Show |
7 | HG02109.hp1 HG02738.hp1 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.237-806_237-803dup others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210575516 | ||||||
| chr2:210575516 | G | GCACACA | 7 | a0001c0001t0007g0035 a0001c0030t0007g0077 a0002c0009t0003g0159 others(4): Show |
7 | HG02257.hp2 HG02572.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.237-808_237-803dup others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210575516 | ||||||
| chr2:210575516 | GCA | G | 4 | a0003c0003t0002g0236 a0003c0018t0002g0235 a0008c0014t0007g0065 others(1): Show |
4 | HG02258.hp1 HG02559.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.237-804_237-803del others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210575516 | ||||||
| chr2:210575516 | GCACA | G | 4 | a0002c0002t0001g0221 a0002c0005t0006g0079 a0004c0004t0002g0013 others(1): Show |
4 | HG02895.hp2 HG02897.hp2 NA18943.hp2 others(1): Show |
intron_variant | MODIFIER | c.237-806_237-803del others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210575516 | ||||||
| chr2:210575516 | GCACACAC others(1): Show |
G | 56 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(53): Show |
57 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(54): Show |
intron_variant | MODIFIER | c.237-810_237-803del others(8): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr2 | 210575516 | ||||||
| chr2:210575540 | A | C | 2 | a0009c0012t0005g0210 a0009c0012t0005g0211 |
2 | NA18945.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.237-806A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210575540 | |||||||
| chr2:210575680 | C | A | 5 | a0001c0001t0007g0245 a0001c0001t0009g0243 a0001c0001t0009g0244 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.237-666C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210575680 | |||||||
| chr2:210575728 | T | C | 1 | a0003c0003t0002g0252 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.237-618T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210575728 | |||||||
| chr2:210575815 | A | G | 2 | a0001c0001t0008g0123 a0003c0003t0005g0122 |
2 | HG03471.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.237-531A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210575815 | |||||||
| chr2:210576137 | C | T | 1 | a0001c0001t0001g0130 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.237-209C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210576137 | |||||||
| chr2:210576255 | C | T | 5 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 others(2): Show |
5 | HG01884.hp2 HG02258.hp1 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.237-91C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 2/37 | chr2 | 210576255 | |||||||
| chr2:210576548 | T | C | 1 | a0001c0001t0003g0091 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.381+58T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210576548 | |||||||
| chr2:210576587 | C | T | 4 | a0001c0006t0001g0115 a0001c0006t0001g0119 a0003c0003t0005g0081 others(1): Show |
4 | HG00408.hp2 HG00438.hp1 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.381+97C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210576587 | |||||||
| chr2:210576699 | A | G | 1 | a0001c0001t0007g0035 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.381+209A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210576699 | |||||||
| chr2:210576702 | C | T | 11 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0003g0128 others(8): Show |
12 | HG01109.hp1 HG02615.hp2 HG02647.hp1 others(9): Show |
intron_variant | MODIFIER | c.381+212C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210576702 | |||||||
| chr2:210576703 | G | A | 1 | a0001c0006t0006g0288 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.381+213G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210576703 | |||||||
| chr2:210576880 | G | A | 2 | a0008c0014t0007g0065 a0008c0014t0007g0066 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.381+390G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210576880 | |||||||
| chr2:210577226 | C | T | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.382-195C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210577226 | |||||||
| chr2:210577274 | A | AT | 11 | a0001c0001t0003g0231 a0001c0030t0007g0077 a0002c0005t0003g0153 others(8): Show |
11 | HG01884.hp1 HG02257.hp2 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.382-134dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr2 | 210577274 | ||||||
| chr2:210577309 | T | C | 1 | a0001c0001t0002g0037 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.382-112T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210577309 | |||||||
| chr2:210577329 | A | G | 1 | a0001c0001t0003g0114 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.382-92A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 3/37 | chr2 | 210577329 | |||||||
| chr2:210577582 | C | T | 4 | a0004c0004t0004g0062 a0004c0004t0005g0151 a0004c0004t0005g0152 others(1): Show |
4 | HG01109.hp2 HG01358.hp2 HG03490.hp1 others(1): Show |
intron_variant | MODIFIER | c.471+72C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210577582 | |||||||
| chr2:210577717 | T | C | 1 | a0002c0009t0007g0073 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.471+207T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210577717 | |||||||
| chr2:210577723 | G | A | 2 | a0004c0004t0002g0013 a0004c0004t0002g0014 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.471+213G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210577723 | |||||||
| chr2:210577839 | T | C | 1 | a0001c0001t0002g0038 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.471+329T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210577839 | |||||||
| chr2:210577942 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.471+432G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210577942 | |||||||
| chr2:210578318 | C | T | 1 | a0001c0001t0023g0083 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.471+808C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210578318 | |||||||
| chr2:210578356 | C | T | 51 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(48): Show |
52 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(49): Show |
intron_variant | MODIFIER | c.471+846C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210578356 | |||||||
| chr2:210578381 | A | G | 2 | a0001c0001t0006g0327 a0003c0003t0004g0326 |
2 | HG02976.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.471+871A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210578381 | |||||||
| chr2:210578606 | G | A | 1 | a0003c0003t0004g0039 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.471+1096G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210578606 | |||||||
| chr2:210578745 | A | G | 9 | a0001c0030t0007g0077 a0002c0009t0003g0159 a0002c0009t0006g0076 others(6): Show |
9 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.472-969A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210578745 | |||||||
| chr2:210578779 | A | C | 9 | a0001c0001t0007g0061 a0001c0001t0007g0301 a0001c0001t0007g0302 others(6): Show |
9 | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(6): Show |
intron_variant | MODIFIER | c.472-935A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210578779 | |||||||
| chr2:210578822 | C | T | 2 | a0003c0003t0004g0297 a0003c0003t0004g0298 |
2 | HG02602.hp2 HG04199.hp2 |
intron_variant | MODIFIER | c.472-892C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210578822 | |||||||
| chr2:210579035 | C | T | 1 | a0002c0002t0001g0209 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.472-679C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210579035 | |||||||
| chr2:210579168 | A | G | 3 | a0001c0001t0001g0092 a0001c0006t0001g0113 a0003c0003t0005g0112 |
3 | HG01943.hp2 HG01978.hp1 HG01993.hp2 |
intron_variant | MODIFIER | c.472-546A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 4/37 | chr2 | 210579168 | |||||||
| chr2:210579809 | G | GGT | 67 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(64): Show |
68 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(65): Show |
intron_variant | MODIFIER | c.528+63_528+64dupTG | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr2 | 210579809 | ||||||
| chr2:210579809 | G | GGTGT | 5 | a0001c0001t0001g0111 a0001c0001t0001g0163 a0001c0001t0003g0110 others(2): Show |
5 | HG03041.hp1 NA18981.hp2 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.528+61_528+64dupTG others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr2 | 210579809 | ||||||
| chr2:210579966 | T | C | 1 | a0002c0002t0005g0174 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.528+196T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210579966 | |||||||
| chr2:210580434 | A | G | 2 | a0003c0003t0002g0236 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.528+664A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580434 | |||||||
| chr2:210580490 | A | G | 7 | a0001c0001t0007g0061 a0001c0001t0007g0301 a0001c0001t0007g0302 others(4): Show |
7 | HG00140.hp1 HG00323.hp1 HG01167.hp2 others(4): Show |
intron_variant | MODIFIER | c.528+720A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580490 | |||||||
| chr2:210580532 | T | A | 7 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0003t0002g0236 others(4): Show |
7 | HG01884.hp2 HG02258.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.528+762T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580532 | |||||||
| chr2:210580616 | C | T | 4 | a0001c0001t0002g0260 a0001c0001t0002g0271 a0001c0001t0006g0241 others(1): Show |
4 | HG00609.hp2 NA18612.hp1 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.528+846C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580616 | |||||||
| chr2:210580637 | G | A | 2 | a0008c0014t0007g0065 a0008c0014t0007g0066 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.528+867G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580637 | |||||||
| chr2:210580659 | C | T | 3 | a0002c0002t0002g0321 a0004c0004t0004g0320 a0004c0007t0005g0162 |
3 | HG02622.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.528+889C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580659 | |||||||
| chr2:210580858 | C | CA | 63 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(60): Show |
66 | HG00140.hp1 HG00323.hp1 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.528+1105dupA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr2 | 210580858 | ||||||
| chr2:210580858 | CA | C | 18 | a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0003g0125 others(15): Show |
18 | HG01243.hp2 HG01884.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.528+1105delA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr2 | 210580858 | ||||||
| chr2:210580860 | A | T | 1 | a0003c0003t0005g0109 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.528+1090A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580860 | |||||||
| chr2:210580905 | A | T | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.528+1135A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580905 | |||||||
| chr2:210580906 | T | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.528+1136T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210580906 | |||||||
| chr2:210581397 | C | T | 195 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(192): Show |
203 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(200): Show |
intron_variant | MODIFIER | c.529-1220C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210581397 | |||||||
| chr2:210581403 | T | C | 10 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(7): Show |
10 | HG01243.hp2 HG02145.hp1 HG02630.hp1 others(7): Show |
intron_variant | MODIFIER | c.529-1214T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210581403 | |||||||
| chr2:210581496 | G | A | 7 | a0001c0030t0007g0077 a0002c0009t0003g0159 a0002c0009t0006g0076 others(4): Show |
7 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.529-1121G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210581496 | |||||||
| chr2:210581596 | G | T | 1 | a0001c0029t0007g0246 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.529-1021G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210581596 | |||||||
| chr2:210581969 | A | G | 1 | a0002c0005t0008g0147 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.529-648A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210581969 | |||||||
| chr2:210582111 | A | G | 5 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(2): Show |
5 | HG02630.hp1 HG02976.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.529-506A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210582111 | |||||||
| chr2:210582274 | C | G | 3 | a0001c0001t0028g0239 a0003c0003t0002g0237 a0003c0003t0027g0238 |
3 | HG02109.hp2 HG02486.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.529-343C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210582274 | |||||||
| chr2:210582318 | C | T | 1 | a0002c0002t0001g0207 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.529-299C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210582318 | |||||||
| chr2:210582465 | A | T | 2 | a0001c0001t0007g0254 a0003c0003t0004g0255 |
2 | HG02280.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.529-152A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 5/37 | chr2 | 210582465 | |||||||
| chr2:210582855 | C | T | 1 | a0002c0002t0002g0316 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.621+146C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210582855 | |||||||
| chr2:210583001 | A | C | 1 | a0003c0003t0004g0304 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.621+292A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210583001 | |||||||
| chr2:210583226 | A | T | 135 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(132): Show |
141 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(138): Show |
intron_variant | MODIFIER | c.621+517A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210583226 | |||||||
| chr2:210583490 | A | C | 2 | a0003c0003t0002g0236 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.621+781A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210583490 | |||||||
| chr2:210583900 | G | A | 52 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(49): Show |
53 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(50): Show |
intron_variant | MODIFIER | c.621+1191G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210583900 | |||||||
| chr2:210583935 | C | A | 201 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(198): Show |
208 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(205): Show |
intron_variant | MODIFIER | c.621+1226C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210583935 | |||||||
| chr2:210583959 | G | A | 5 | a0001c0001t0007g0245 a0001c0001t0009g0243 a0001c0001t0009g0244 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.621+1250G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210583959 | |||||||
| chr2:210583969 | A | T | 201 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(198): Show |
208 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(205): Show |
intron_variant | MODIFIER | c.621+1260A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210583969 | |||||||
| chr2:210584076 | A | G | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.621+1367A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210584076 | |||||||
| chr2:210584239 | C | T | 2 | a0003c0003t0002g0236 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02630.hp2 |
intron_variant | MODIFIER | c.621+1530C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210584239 | |||||||
| chr2:210584416 | A | T | 1 | a0004c0007t0005g0162 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.621+1707A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210584416 | |||||||
| chr2:210584548 | G | A | 51 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(48): Show |
52 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(49): Show |
intron_variant | MODIFIER | c.621+1839G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210584548 | |||||||
| chr2:210584937 | C | T | 133 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(130): Show |
139 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(136): Show |
intron_variant | MODIFIER | c.621+2228C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210584937 | |||||||
| chr2:210585001 | G | A | 1 | a0003c0031t0002g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.621+2292G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585001 | |||||||
| chr2:210585185 | T | C | 205 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(202): Show |
212 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(209): Show |
intron_variant | MODIFIER | c.621+2476T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585185 | |||||||
| chr2:210585226 | T | A | 51 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(48): Show |
52 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(49): Show |
intron_variant | MODIFIER | c.621+2517T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585226 | |||||||
| chr2:210585498 | G | A | 2 | a0001c0001t0007g0070 a0001c0028t0024g0071 |
2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.622-2560G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585498 | |||||||
| chr2:210585672 | T | C | 205 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(202): Show |
212 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(209): Show |
intron_variant | MODIFIER | c.622-2386T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585672 | |||||||
| chr2:210585678 | TAACA | T | 7 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0003g0128 others(4): Show |
8 | HG02615.hp2 HG02717.hp1 HG02809.hp2 others(5): Show |
intron_variant | MODIFIER | c.622-2379_622-2376d others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585678 | |||||||
| chr2:210585744 | G | T | 3 | a0004c0007t0001g0161 a0004c0007t0005g0005 a0004c0007t0005g0162 |
4 | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.622-2314G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585744 | |||||||
| chr2:210585892 | T | C | 11 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(8): Show |
11 | HG01943.hp2 HG01978.hp1 HG01993.hp2 others(8): Show |
intron_variant | MODIFIER | c.622-2166T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585892 | |||||||
| chr2:210585986 | G | A | 51 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(48): Show |
52 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(49): Show |
intron_variant | MODIFIER | c.622-2072G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210585986 | |||||||
| chr2:210586126 | C | T | 59 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0262 others(56): Show |
62 | HG00140.hp1 HG00323.hp1 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.622-1932C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210586126 | |||||||
| chr2:210586345 | TTTAAAAT others(235): Show |
T | 1 | a0003c0003t0004g0295 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.622-1708_622-1467d others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr2 | 210586345 | ||||||
| chr2:210586421 | G | A | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.622-1637G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210586421 | |||||||
| chr2:210586575 | A | G | 2 | a0008c0014t0007g0065 a0008c0014t0007g0066 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.622-1483A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210586575 | |||||||
| chr2:210586611 | T | C | 1 | a0001c0001t0003g0227 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.622-1447T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210586611 | |||||||
| chr2:210586718 | G | C | 3 | a0001c0001t0007g0016 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG01884.hp2 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.622-1340G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210586718 | |||||||
| chr2:210586850 | A | G | 1 | a0001c0001t0003g0091 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.622-1208A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210586850 | |||||||
| chr2:210587072 | AT | A | 192 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(189): Show |
199 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.622-977delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr2 | 210587072 | ||||||
| chr2:210587226 | C | G | 1 | a0003c0003t0004g0298 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.622-832C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587226 | |||||||
| chr2:210587374 | A | T | 1 | a0002c0002t0002g0315 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.622-684A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587374 | |||||||
| chr2:210587451 | G | A | 131 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(128): Show |
137 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(134): Show |
intron_variant | MODIFIER | c.622-607G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587451 | |||||||
| chr2:210587472 | C | A | 3 | a0001c0001t0003g0085 a0001c0001t0003g0093 a0001c0001t0003g0114 |
3 | NA18983.hp2 NA19010.hp2 NA19060.hp2 |
intron_variant | MODIFIER | c.622-586C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587472 | |||||||
| chr2:210587563 | CTT | C | 51 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(48): Show |
52 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(49): Show |
intron_variant | MODIFIER | c.622-494_622-493del others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587563 | |||||||
| chr2:210587566 | A | T | 1 | a0001c0001t0006g0325 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.622-492A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587566 | |||||||
| chr2:210587749 | T | G | 3 | a0004c0007t0001g0161 a0004c0007t0005g0005 a0004c0007t0005g0162 |
4 | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.622-309T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587749 | |||||||
| chr2:210587776 | G | T | 1 | a0003c0003t0004g0295 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.622-282G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587776 | |||||||
| chr2:210587874 | TAC | T | 52 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(49): Show |
53 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.622-182_622-181del others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr2 | 210587874 | ||||||
| chr2:210587907 | A | C | 1 | a0001c0001t0003g0135 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.622-151A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587907 | |||||||
| chr2:210587980 | T | C | 1 | a0002c0002t0001g0175 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.622-78T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 6/37 | chr2 | 210587980 | |||||||
| chr2:210588296 | A | C | 2 | a0008c0014t0007g0065 a0008c0014t0007g0066 |
2 | HG02258.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.711+149A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588296 | |||||||
| chr2:210588313 | A | G | 3 | a0001c0030t0007g0077 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG03041.hp1 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.711+166A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588313 | |||||||
| chr2:210588426 | T | A | 1 | a0003c0003t0004g0039 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.711+279T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588426 | |||||||
| chr2:210588536 | C | A | 1 | a0002c0002t0015g0088 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.711+389C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588536 | |||||||
| chr2:210588681 | C | T | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.711+534C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588681 | |||||||
| chr2:210588744 | A | G | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.711+597A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588744 | |||||||
| chr2:210588858 | A | G | 3 | a0001c0001t0007g0070 a0001c0028t0024g0071 a0003c0018t0002g0235 |
3 | HG02451.hp1 HG02572.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.711+711A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588858 | |||||||
| chr2:210588890 | G | A | 1 | a0001c0001t0002g0262 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.711+743G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210588890 | |||||||
| chr2:210589077 | A | G | 209 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(206): Show |
217 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.711+930A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210589077 | |||||||
| chr2:210589115 | G | T | 1 | a0014c0023t0006g0023 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.711+968G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210589115 | |||||||
| chr2:210589409 | G | A | 124 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(121): Show |
130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.712-697G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210589409 | |||||||
| chr2:210589734 | G | A | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.712-372G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210589734 | |||||||
| chr2:210589948 | C | T | 1 | a0001c0001t0018g0060 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.712-158C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210589948 | |||||||
| chr2:210590078 | A | G | 1 | a0001c0001t0003g0108 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.712-28A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 7/37 | chr2 | 210590078 | |||||||
| chr2:210590276 | G | C | 5 | a0001c0001t0007g0070 a0001c0001t0014g0157 a0001c0028t0024g0071 others(2): Show |
5 | HG02451.hp1 HG02572.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.840+42G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590276 | |||||||
| chr2:210590386 | T | C | 5 | a0001c0001t0007g0070 a0001c0001t0014g0157 a0001c0028t0024g0071 others(2): Show |
5 | HG02451.hp1 HG02572.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.840+152T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590386 | |||||||
| chr2:210590440 | A | G | 1 | a0001c0001t0002g0037 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.840+206A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590440 | |||||||
| chr2:210590557 | A | G | 132 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(129): Show |
138 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.841-243A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590557 | |||||||
| chr2:210590613 | T | C | 2 | a0004c0004t0002g0013 a0004c0004t0002g0014 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.841-187T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590613 | |||||||
| chr2:210590618 | T | C | 195 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(192): Show |
202 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(199): Show |
intron_variant | MODIFIER | c.841-182T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590618 | |||||||
| chr2:210590623 | C | A | 1 | a0001c0001t0006g0041 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.841-177C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590623 | |||||||
| chr2:210590634 | A | G | 1 | a0002c0005t0008g0233 | 1 | HG03491.hp1 | intron_variant | MODIFIER | c.841-166A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 8/37 | chr2 | 210590634 | |||||||
| chr2:210590948 | C | T | 1 | a0001c0001t0003g0093 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.947+42C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210590948 | |||||||
| chr2:210590990 | T | C | 2 | a0002c0002t0011g0138 a0004c0004t0005g0155 |
2 | HG02559.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.947+84T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210590990 | |||||||
| chr2:210591041 | A | AAAAT | 4 | a0002c0005t0008g0147 a0004c0004t0004g0024 a0008c0014t0007g0065 others(1): Show |
4 | HG02258.hp1 HG02559.hp1 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.947+163_947+166dup others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr2 | 210591041 | ||||||
| chr2:210591041 | A | AAAATAAA others(1): Show |
3 | a0001c0030t0007g0077 a0001c0032t0026g0015 a0003c0031t0002g0018 |
3 | HG03041.hp1 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.947+159_947+166dup others(8): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr2 | 210591041 | ||||||
| chr2:210591041 | AAAAT | A | 5 | a0001c0006t0002g0042 a0002c0005t0006g0079 a0004c0007t0001g0161 others(2): Show |
6 | HG01891.hp2 HG02165.hp1 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.947+163_947+166del others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | INFO_REALIGN_3_PRIME | chr2 | 210591041 | ||||||
| chr2:210591229 | A | G | 65 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(62): Show |
67 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(64): Show |
intron_variant | MODIFIER | c.947+323A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210591229 | |||||||
| chr2:210591397 | C | T | 1 | a0004c0007t0005g0206 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.948-434C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210591397 | |||||||
| chr2:210591590 | C | T | 2 | a0001c0001t0007g0250 a0001c0024t0017g0285 |
2 | HG00741.hp1 HG01433.hp1 |
intron_variant | MODIFIER | c.948-241C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210591590 | |||||||
| chr2:210591628 | C | T | 1 | a0001c0001t0006g0041 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.948-203C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210591628 | |||||||
| chr2:210591760 | T | C | 1 | a0003c0008t0004g0043 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.948-71T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210591760 | |||||||
| chr2:210591767 | A | C | 3 | a0001c0001t0028g0239 a0003c0003t0002g0237 a0003c0003t0027g0238 |
3 | HG02109.hp2 HG02486.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.948-64A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 9/37 | chr2 | 210591767 | |||||||
| chr2:210592082 | C | T | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1086+113C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/37 | chr2 | 210592082 | |||||||
| chr2:210592175 | C | T | 1 | a0004c0004t0005g0152 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1086+206C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/37 | chr2 | 210592175 | |||||||
| chr2:210592225 | G | C | 1 | a0002c0002t0005g0174 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.1086+256G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/37 | chr2 | 210592225 | |||||||
| chr2:210592537 | C | T | 192 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(189): Show |
199 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.1087-342C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/37 | chr2 | 210592537 | |||||||
| chr2:210592732 | A | G | 26 | a0002c0002t0001g0146 a0002c0002t0001g0167 a0002c0002t0001g0168 others(23): Show |
26 | HG00438.hp2 HG00639.hp1 HG01069.hp1 others(23): Show |
intron_variant | MODIFIER | c.1087-147A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 10/37 | chr2 | 210592732 | |||||||
| chr2:210593019 | G | A | 1 | a0001c0001t0003g0108 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1164+63G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593019 | |||||||
| chr2:210593055 | A | G | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1164+99A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593055 | |||||||
| chr2:210593182 | G | A | 1 | a0001c0030t0007g0077 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1164+226G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593182 | |||||||
| chr2:210593182 | G | T | 6 | a0001c0001t0003g0124 a0001c0001t0007g0245 a0001c0001t0009g0243 others(3): Show |
6 | HG01243.hp2 HG02145.hp1 HG03139.hp2 others(3): Show |
intron_variant | MODIFIER | c.1164+226G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593182 | |||||||
| chr2:210593274 | C | G | 15 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0003g0128 others(12): Show |
17 | HG01109.hp1 HG01884.hp2 HG02257.hp1 others(14): Show |
intron_variant | MODIFIER | c.1164+318C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593274 | |||||||
| chr2:210593372 | A | C | 1 | a0002c0009t0006g0076 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1164+416A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593372 | |||||||
| chr2:210593411 | G | A | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1164+455G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593411 | |||||||
| chr2:210593550 | C | G | 2 | a0001c0001t0007g0245 a0001c0029t0007g0246 |
2 | HG03139.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.1164+594C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593550 | |||||||
| chr2:210593775 | T | A | 3 | a0001c0001t0006g0289 a0001c0006t0006g0290 a0003c0008t0004g0001 |
5 | HG02523.hp2 NA18951.hp1 NA18965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1165-733T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593775 | |||||||
| chr2:210593876 | A | G | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.1165-632A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210593876 | |||||||
| chr2:210594067 | C | A | 1 | a0003c0003t0004g0270 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1165-441C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210594067 | |||||||
| chr2:210594115 | G | A | 1 | a0001c0001t0002g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1165-393G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210594115 | |||||||
| chr2:210594154 | A | G | 7 | a0001c0001t0003g0124 a0001c0001t0007g0245 a0001c0001t0009g0243 others(4): Show |
7 | HG01243.hp2 HG02145.hp1 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.1165-354A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210594154 | |||||||
| chr2:210594262 | A | T | 1 | a0001c0001t0003g0132 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1165-246A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210594262 | |||||||
| chr2:210594381 | C | A | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1165-127C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 11/37 | chr2 | 210594381 | |||||||
| chr2:210595168 | T | A | 2 | a0002c0002t0002g0321 a0004c0004t0004g0320 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1264-319T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 12/37 | chr2 | 210595168 | |||||||
| chr2:210595363 | A | G | 1 | a0001c0001t0014g0157 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.1264-124A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 12/37 | chr2 | 210595363 | |||||||
| chr2:210595589 | G | A | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | splice_region_variant&intron_variant | LOW | c.1359+7G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210595589 | |||||||
| chr2:210595702 | A | C | 1 | a0003c0003t0004g0304 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1359+120A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210595702 | |||||||
| chr2:210595780 | T | C | 1 | a0001c0001t0002g0260 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.1359+198T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210595780 | |||||||
| chr2:210595957 | A | C | 1 | a0002c0002t0001g0084 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.1359+375A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210595957 | |||||||
| chr2:210595978 | G | A | 192 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(189): Show |
199 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(196): Show |
intron_variant | MODIFIER | c.1359+396G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210595978 | |||||||
| chr2:210596106 | G | A | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1359+524G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210596106 | |||||||
| chr2:210596140 | A | G | 210 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(207): Show |
218 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(215): Show |
intron_variant | MODIFIER | c.1359+558A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210596140 | |||||||
| chr2:210596277 | A | T | 15 | a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 others(12): Show |
16 | HG01257.hp2 HG01258.hp1 HG01993.hp1 others(13): Show |
intron_variant | MODIFIER | c.1359+695A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210596277 | |||||||
| chr2:210596388 | G | A | 124 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(121): Show |
130 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(127): Show |
intron_variant | MODIFIER | c.1359+806G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210596388 | |||||||
| chr2:210596707 | T | G | 2 | a0001c0001t0008g0123 a0003c0003t0005g0122 |
2 | HG03471.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1359+1125T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210596707 | |||||||
| chr2:210596890 | T | C | 5 | a0001c0001t0008g0098 a0003c0003t0005g0099 a0003c0003t0005g0109 others(2): Show |
5 | HG00738.hp2 HG01106.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.1359+1308T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210596890 | |||||||
| chr2:210597027 | C | T | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1359+1445C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210597027 | |||||||
| chr2:210597084 | G | A | 5 | a0001c0030t0007g0077 a0001c0032t0026g0015 a0003c0031t0002g0018 others(2): Show |
5 | HG02258.hp1 HG02559.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.1359+1502G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210597084 | |||||||
| chr2:210597156 | T | A | 206 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(203): Show |
213 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(210): Show |
intron_variant | MODIFIER | c.1359+1574T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210597156 | |||||||
| chr2:210597262 | C | T | 1 | a0002c0002t0001g0191 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.1359+1680C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210597262 | |||||||
| chr2:210597290 | A | G | 1 | a0004c0004t0004g0062 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.1359+1708A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210597290 | |||||||
| chr2:210597683 | G | A | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1360-1689G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210597683 | |||||||
| chr2:210597823 | C | CATATATA others(29): Show |
1 | a0002c0009t0007g0073 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1360-1540_1360-153 others(40): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210597823 | ||||||
| chr2:210597823 | C | CATATATA others(37): Show |
2 | a0004c0004t0002g0013 a0004c0004t0002g0014 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.1360-1540_1360-153 others(48): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210597823 | ||||||
| chr2:210597829 | T | TATATATA others(67): Show |
1 | a0002c0009t0006g0076 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.1360-1540_1360-153 others(78): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210597829 | ||||||
| chr2:210597829 | T | TATATATA others(35): Show |
1 | a0002c0013t0006g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.1360-1540_1360-153 others(46): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210597829 | ||||||
| chr2:210597829 | T | TATATATA others(39): Show |
1 | a0002c0013t0007g0075 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1360-1540_1360-153 others(50): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210597829 | ||||||
| chr2:210597829 | T | TATATATA others(41): Show |
1 | a0002c0009t0003g0159 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1360-1540_1360-153 others(52): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210597829 | ||||||
| chr2:210597829 | T | TATATATA others(43): Show |
1 | a0002c0009t0006g0078 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1360-1540_1360-153 others(54): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210597829 | ||||||
| chr2:210597908 | A | G | 1 | a0003c0003t0004g0059 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.1360-1464A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210597908 | |||||||
| chr2:210598075 | C | A | 54 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(51): Show |
56 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1360-1297C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598075 | |||||||
| chr2:210598090 | T | TC | 61 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(58): Show |
62 | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(59): Show |
intron_variant | MODIFIER | c.1360-1282_1360-128 others(5): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598090 | |||||||
| chr2:210598492 | G | A | 1 | a0003c0008t0004g0273 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.1360-880G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598492 | |||||||
| chr2:210598504 | G | C | 1 | a0001c0001t0001g0158 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1360-868G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598504 | |||||||
| chr2:210598540 | GA | G | 126 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(123): Show |
132 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(129): Show |
intron_variant | MODIFIER | c.1360-823delA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210598540 | ||||||
| chr2:210598549 | A | AG | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1360-819dupG | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr2 | 210598549 | ||||||
| chr2:210598569 | C | T | 1 | a0001c0001t0001g0163 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.1360-803C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598569 | |||||||
| chr2:210598611 | C | T | 54 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(51): Show |
56 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.1360-761C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598611 | |||||||
| chr2:210598679 | A | G | 4 | a0001c0001t0002g0067 a0001c0001t0002g0069 a0003c0003t0004g0058 others(1): Show |
4 | NA18963.hp2 NA18992.hp2 NA19004.hp2 others(1): Show |
intron_variant | MODIFIER | c.1360-693A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598679 | |||||||
| chr2:210598773 | C | T | 1 | a0001c0001t0003g0230 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.1360-599C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598773 | |||||||
| chr2:210598826 | A | T | 9 | a0001c0001t0007g0061 a0001c0001t0007g0301 a0001c0001t0007g0302 others(6): Show |
9 | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(6): Show |
intron_variant | MODIFIER | c.1360-546A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598826 | |||||||
| chr2:210598892 | C | T | 1 | a0002c0002t0001g0205 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1360-480C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598892 | |||||||
| chr2:210598894 | C | G | 3 | a0001c0001t0001g0107 a0001c0001t0002g0030 a0003c0003t0004g0029 |
3 | NA18974.hp2 NA18994.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1360-478C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598894 | |||||||
| chr2:210598915 | T | C | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1360-457T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598915 | |||||||
| chr2:210598935 | C | T | 1 | a0003c0031t0002g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1360-437C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210598935 | |||||||
| chr2:210599075 | C | A | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1360-297C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210599075 | |||||||
| chr2:210599100 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1360-272G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210599100 | |||||||
| chr2:210599142 | G | A | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1360-230G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210599142 | |||||||
| chr2:210599262 | G | A | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1360-110G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210599262 | |||||||
| chr2:210599361 | G | C | 1 | a0003c0003t0004g0258 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.1360-11G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 13/37 | chr2 | 210599361 | |||||||
| chr2:210599719 | T | C | 1 | a0003c0003t0002g0236 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1549+158T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210599719 | |||||||
| chr2:210599820 | A | G | 1 | a0012c0017t0005g0189 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.1549+259A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210599820 | |||||||
| chr2:210599825 | A | G | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1549+264A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210599825 | |||||||
| chr2:210599829 | C | T | 130 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(127): Show |
136 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.1549+268C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210599829 | |||||||
| chr2:210599854 | A | G | 1 | a0002c0002t0002g0317 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.1549+293A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210599854 | |||||||
| chr2:210599880 | T | C | 1 | a0002c0002t0003g0172 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.1549+319T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210599880 | |||||||
| chr2:210600005 | T | A | 3 | a0001c0001t0001g0107 a0001c0001t0002g0030 a0003c0003t0004g0029 |
3 | NA18974.hp2 NA18994.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.1549+444T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210600005 | |||||||
| chr2:210600199 | G | T | 5 | a0001c0001t0007g0245 a0001c0001t0009g0243 a0001c0001t0009g0244 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.1550-356G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210600199 | |||||||
| chr2:210600264 | A | G | 5 | a0001c0001t0007g0070 a0001c0001t0014g0157 a0001c0028t0024g0071 others(2): Show |
5 | HG02451.hp1 HG02572.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.1550-291A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210600264 | |||||||
| chr2:210600389 | G | A | 55 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(52): Show |
57 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.1550-166G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210600389 | |||||||
| chr2:210600420 | C | T | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1550-135C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 14/37 | chr2 | 210600420 | |||||||
| chr2:210601056 | T | C | 208 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(205): Show |
215 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(212): Show |
intron_variant | MODIFIER | c.1707+344T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601056 | |||||||
| chr2:210601227 | T | G | 1 | a0001c0001t0002g0038 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1707+515T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601227 | |||||||
| chr2:210601372 | T | C | 1 | a0001c0001t0003g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.1707+660T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601372 | |||||||
| chr2:210601413 | C | A | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1707+701C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601413 | |||||||
| chr2:210601542 | A | T | 3 | a0003c0003t0002g0021 a0014c0023t0006g0023 a0015c0022t0002g0022 |
3 | HG02109.hp1 HG02809.hp1 HG02818.hp1 |
intron_variant | MODIFIER | c.1708-660A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601542 | |||||||
| chr2:210601654 | T | C | 3 | a0004c0007t0001g0161 a0004c0007t0005g0005 a0004c0007t0005g0162 |
4 | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.1708-548T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601654 | |||||||
| chr2:210601866 | G | A | 1 | a0003c0003t0004g0044 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1708-336G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601866 | |||||||
| chr2:210601917 | A | G | 2 | a0002c0002t0001g0188 a0002c0002t0001g0209 |
2 | NA19010.hp1 NA19076.hp2 |
intron_variant | MODIFIER | c.1708-285A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210601917 | |||||||
| chr2:210602104 | C | G | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1708-98C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210602104 | |||||||
| chr2:210602105 | A | T | 3 | a0001c0001t0003g0133 a0003c0003t0005g0087 a0007c0015t0011g0134 |
3 | HG01257.hp1 HG01891.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.1708-97A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 15/37 | chr2 | 210602105 | |||||||
| chr2:210602333 | A | G | 1 | a0002c0002t0002g0314 | 1 | HG01978.hp2 | splice_region_variant&intron_variant | LOW | c.1836+3A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210602333 | |||||||
| chr2:210602385 | C | A | 1 | a0001c0001t0007g0070 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1836+55C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210602385 | |||||||
| chr2:210602824 | A | G | 132 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(129): Show |
138 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.1836+494A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210602824 | |||||||
| chr2:210603096 | C | T | 1 | a0001c0001t0009g0276 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.1836+766C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210603096 | |||||||
| chr2:210603195 | A | T | 4 | a0001c0001t0007g0070 a0001c0028t0024g0071 a0003c0003t0002g0236 others(1): Show |
4 | HG02451.hp1 HG02572.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.1836+865A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210603195 | |||||||
| chr2:210603537 | T | C | 3 | a0001c0001t0006g0040 a0001c0001t0006g0045 a0003c0003t0004g0044 |
3 | HG00597.hp1 NA19087.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.1836+1207T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210603537 | |||||||
| chr2:210603564 | T | C | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1836+1234T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210603564 | |||||||
| chr2:210603795 | T | A | 1 | a0003c0003t0004g0046 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.1837-1307T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210603795 | |||||||
| chr2:210603848 | G | A | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1837-1254G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210603848 | |||||||
| chr2:210604060 | G | A | 1 | a0005c0010t0014g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1837-1042G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210604060 | |||||||
| chr2:210604166 | G | A | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1837-936G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210604166 | |||||||
| chr2:210604186 | C | T | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.1837-916C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210604186 | |||||||
| chr2:210604217 | T | A | 8 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(5): Show |
8 | HG02257.hp2 HG02572.hp2 HG02647.hp2 others(5): Show |
intron_variant | MODIFIER | c.1837-885T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210604217 | |||||||
| chr2:210604399 | A | G | 207 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(204): Show |
215 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(212): Show |
intron_variant | MODIFIER | c.1837-703A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210604399 | |||||||
| chr2:210604466 | T | G | 204 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(201): Show |
211 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(208): Show |
intron_variant | MODIFIER | c.1837-636T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210604466 | |||||||
| chr2:210604707 | A | G | 15 | a0002c0002t0001g0006 a0002c0002t0001g0080 a0002c0002t0001g0084 others(12): Show |
16 | HG00558.hp1 NA18943.hp2 NA18944.hp2 others(13): Show |
intron_variant | MODIFIER | c.1837-395A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 16/37 | chr2 | 210604707 | |||||||
| chr2:210605362 | T | C | 74 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(71): Show |
76 | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(73): Show |
intron_variant | MODIFIER | c.1981+116T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210605362 | |||||||
| chr2:210605453 | G | A | 3 | a0001c0030t0007g0077 a0001c0032t0026g0015 a0008c0014t0007g0065 |
3 | HG02258.hp1 HG03041.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1981+207G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210605453 | |||||||
| chr2:210605472 | T | C | 10 | a0001c0001t0003g0125 a0001c0001t0003g0133 a0001c0001t0003g0135 others(7): Show |
10 | HG00140.hp2 HG01175.hp1 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.1981+226T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210605472 | |||||||
| chr2:210605769 | T | G | 91 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(88): Show |
93 | HG00140.hp1 HG00323.hp1 HG00438.hp1 others(90): Show |
intron_variant | MODIFIER | c.1981+523T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210605769 | |||||||
| chr2:210605990 | C | A | 1 | a0001c0001t0001g0106 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.1982-741C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210605990 | |||||||
| chr2:210606058 | A | G | 4 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(1): Show |
4 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.1982-673A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606058 | |||||||
| chr2:210606236 | T | C | 73 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(70): Show |
75 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(72): Show |
intron_variant | MODIFIER | c.1982-495T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606236 | |||||||
| chr2:210606268 | G | A | 2 | a0001c0001t0003g0094 a0001c0001t0006g0280 |
2 | HG06807.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.1982-463G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606268 | |||||||
| chr2:210606313 | G | T | 20 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0268 others(17): Show |
21 | HG00597.hp2 HG00609.hp2 HG02135.hp2 others(18): Show |
intron_variant | MODIFIER | c.1982-418G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606313 | |||||||
| chr2:210606347 | G | A | 207 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(204): Show |
214 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(211): Show |
intron_variant | MODIFIER | c.1982-384G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606347 | |||||||
| chr2:210606444 | G | C | 1 | a0008c0014t0007g0065 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1982-287G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606444 | |||||||
| chr2:210606515 | A | T | 3 | a0001c0001t0014g0157 a0001c0001t0028g0239 a0003c0018t0002g0235 |
3 | HG02109.hp2 HG02572.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1982-216A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606515 | |||||||
| chr2:210606638 | T | C | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1982-93T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606638 | |||||||
| chr2:210606665 | G | T | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1982-66G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 17/37 | chr2 | 210606665 | |||||||
| chr2:210606984 | A | G | 1 | a0002c0002t0003g0190 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.2192+43A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210606984 | |||||||
| chr2:210607068 | A | T | 1 | a0001c0001t0001g0111 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.2192+127A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210607068 | |||||||
| chr2:210607299 | A | G | 1 | a0001c0001t0007g0070 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2192+358A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210607299 | |||||||
| chr2:210607570 | A | G | 9 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(6): Show |
9 | HG02109.hp2 HG02258.hp1 HG02572.hp1 others(6): Show |
intron_variant | MODIFIER | c.2192+629A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210607570 | |||||||
| chr2:210607574 | T | A | 1 | a0002c0013t0006g0074 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2192+633T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210607574 | |||||||
| chr2:210607807 | C | A | 5 | a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0276 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.2193-554C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210607807 | |||||||
| chr2:210607886 | A | G | 1 | a0001c0001t0002g0069 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.2193-475A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210607886 | |||||||
| chr2:210607994 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2193-367G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210607994 | |||||||
| chr2:210608078 | T | C | 4 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(1): Show |
4 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2193-283T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210608078 | |||||||
| chr2:210608133 | G | A | 1 | a0001c0032t0026g0015 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2193-228G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210608133 | |||||||
| chr2:210608161 | G | A | 8 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.2193-200G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210608161 | |||||||
| chr2:210608203 | G | T | 1 | a0002c0013t0007g0075 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2193-158G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210608203 | |||||||
| chr2:210608346 | G | T | 62 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(59): Show |
64 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(61): Show |
intron_variant | MODIFIER | c.2193-15G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 18/37 | chr2 | 210608346 | |||||||
| chr2:210608577 | T | G | 6 | a0001c0001t0003g0124 a0001c0001t0009g0243 a0001c0001t0009g0244 others(3): Show |
6 | HG01243.hp2 HG02145.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.2391+18T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210608577 | |||||||
| chr2:210608579 | C | T | 1 | a0001c0001t0007g0016 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2391+20C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210608579 | |||||||
| chr2:210608683 | T | A | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2391+124T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210608683 | |||||||
| chr2:210608841 | A | G | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2391+282A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210608841 | |||||||
| chr2:210608845 | A | T | 1 | a0004c0004t0004g0024 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2391+286A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210608845 | |||||||
| chr2:210609088 | A | T | 1 | a0002c0002t0015g0183 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.2391+529A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210609088 | |||||||
| chr2:210609148 | A | G | 1 | a0002c0002t0001g0187 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.2391+589A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210609148 | |||||||
| chr2:210609306 | G | C | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2391+747G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210609306 | |||||||
| chr2:210609523 | A | G | 1 | a0002c0002t0003g0216 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.2391+964A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210609523 | |||||||
| chr2:210609671 | C | T | 1 | a0002c0002t0008g0145 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2391+1112C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210609671 | |||||||
| chr2:210610259 | A | G | 4 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(1): Show |
4 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2391+1700A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210610259 | |||||||
| chr2:210610392 | C | T | 1 | a0003c0008t0004g0273 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2392-1725C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210610392 | |||||||
| chr2:210610393 | G | A | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2392-1724G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210610393 | |||||||
| chr2:210610454 | C | T | 1 | a0002c0002t0002g0313 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2392-1663C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210610454 | |||||||
| chr2:210610819 | A | G | 7 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.2392-1298A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210610819 | |||||||
| chr2:210610838 | GT | G | 6 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(3): Show |
6 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2392-1269delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr2 | 210610838 | ||||||
| chr2:210610940 | A | G | 9 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(6): Show |
9 | HG02109.hp2 HG02572.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.2392-1177A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210610940 | |||||||
| chr2:210611047 | G | A | 1 | a0001c0001t0001g0089 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.2392-1070G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611047 | |||||||
| chr2:210611122 | A | C | 10 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(7): Show |
10 | HG02109.hp2 HG02258.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.2392-995A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611122 | |||||||
| chr2:210611255 | A | G | 1 | a0001c0001t0010g0299 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2392-862A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611255 | |||||||
| chr2:210611264 | A | T | 1 | a0001c0001t0006g0289 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.2392-853A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611264 | |||||||
| chr2:210611423 | G | T | 7 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.2392-694G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611423 | |||||||
| chr2:210611547 | AT | A | 61 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(58): Show |
63 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(60): Show |
intron_variant | MODIFIER | c.2392-567delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr2 | 210611547 | ||||||
| chr2:210611570 | C | T | 7 | a0002c0005t0003g0150 a0002c0005t0003g0153 a0002c0013t0006g0074 others(4): Show |
7 | HG01884.hp1 HG02257.hp2 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.2392-547C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611570 | |||||||
| chr2:210611619 | G | A | 4 | a0002c0002t0001g0188 a0002c0002t0001g0208 a0002c0002t0001g0209 others(1): Show |
4 | NA18954.hp1 NA19010.hp1 NA19056.hp2 others(1): Show |
intron_variant | MODIFIER | c.2392-498G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611619 | |||||||
| chr2:210611625 | T | G | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2392-492T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611625 | |||||||
| chr2:210611644 | G | A | 3 | a0001c0001t0001g0107 a0001c0001t0002g0030 a0003c0003t0004g0029 |
3 | NA18974.hp2 NA18994.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.2392-473G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | chr2 | 210611644 | |||||||
| chr2:210611971 | C | CT | 53 | a0001c0001t0002g0011 a0001c0001t0002g0038 a0001c0001t0002g0260 others(50): Show |
55 | HG00597.hp2 HG00609.hp2 HG01069.hp2 others(52): Show |
intron_variant | MODIFIER | c.2392-133dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr2 | 210611971 | ||||||
| chr2:210611971 | C | CTT | 59 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(56): Show |
61 | HG00140.hp2 HG00597.hp1 HG00733.hp1 others(58): Show |
intron_variant | MODIFIER | c.2392-134_2392-133d others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr2 | 210611971 | ||||||
| chr2:210611971 | C | CTTT | 8 | a0001c0001t0007g0061 a0001c0001t0016g0323 a0001c0001t0017g0318 others(5): Show |
8 | HG00140.hp1 HG00408.hp1 HG00609.hp1 others(5): Show |
intron_variant | MODIFIER | c.2392-135_2392-133d others(5): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr2 | 210611971 | ||||||
| chr2:210611971 | CT | C | 67 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(64): Show |
69 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(66): Show |
intron_variant | MODIFIER | c.2392-133delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 19/37 | INFO_REALIGN_3_PRIME | chr2 | 210611971 | ||||||
| chr2:210612494 | A | G | 11 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(8): Show |
13 | HG02109.hp2 HG02258.hp1 HG02523.hp2 others(10): Show |
intron_variant | MODIFIER | c.2568+201A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210612494 | |||||||
| chr2:210612562 | C | G | 1 | a0003c0003t0004g0057 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2568+269C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210612562 | |||||||
| chr2:210612593 | C | CTT | 4 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(1): Show |
4 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2568+300_2568+301i others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210612593 | |||||||
| chr2:210612653 | A | G | 1 | a0001c0024t0017g0285 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.2568+360A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210612653 | |||||||
| chr2:210612697 | T | C | 1 | a0004c0004t0005g0201 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2568+404T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210612697 | |||||||
| chr2:210612875 | C | A | 1 | a0001c0029t0007g0246 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2568+582C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210612875 | |||||||
| chr2:210613138 | G | A | 1 | a0001c0001t0016g0323 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.2568+845G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210613138 | |||||||
| chr2:210613292 | A | G | 2 | a0001c0030t0007g0077 a0001c0032t0026g0015 |
2 | HG03041.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2568+999A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210613292 | |||||||
| chr2:210613345 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2568+1052G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210613345 | |||||||
| chr2:210613558 | A | ATG | 14 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(11): Show |
14 | HG02109.hp2 HG02258.hp1 HG02572.hp1 others(11): Show |
intron_variant | MODIFIER | c.2568+1281_2568+128 others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr2 | 210613558 | ||||||
| chr2:210613642 | A | C | 21 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0072 others(18): Show |
23 | HG00140.hp1 HG00639.hp2 HG00733.hp2 others(20): Show |
intron_variant | MODIFIER | c.2568+1349A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210613642 | |||||||
| chr2:210613704 | G | A | 62 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(59): Show |
64 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(61): Show |
intron_variant | MODIFIER | c.2568+1411G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210613704 | |||||||
| chr2:210613738 | T | C | 3 | a0004c0007t0001g0161 a0004c0007t0005g0005 a0004c0007t0005g0162 |
4 | HG01891.hp2 HG02622.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.2568+1445T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210613738 | |||||||
| chr2:210613922 | C | T | 2 | a0002c0013t0007g0075 a0003c0003t0005g0166 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2568+1629C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210613922 | |||||||
| chr2:210614193 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2568+1900G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210614193 | |||||||
| chr2:210614248 | T | A | 1 | a0002c0005t0003g0153 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2568+1955T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210614248 | |||||||
| chr2:210614295 | A | G | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2568+2002A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210614295 | |||||||
| chr2:210614473 | A | C | 1 | a0008c0014t0007g0065 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2569-1950A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210614473 | |||||||
| chr2:210614885 | G | A | 68 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(65): Show |
70 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(67): Show |
intron_variant | MODIFIER | c.2569-1538G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210614885 | |||||||
| chr2:210615027 | G | GTA | 7 | a0001c0001t0003g0124 a0001c0001t0009g0243 a0001c0001t0009g0244 others(4): Show |
7 | HG01243.hp2 HG01934.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.2569-1381_2569-138 others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | INFO_REALIGN_3_PRIME | chr2 | 210615027 | ||||||
| chr2:210615107 | T | A | 1 | a0008c0014t0007g0065 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2569-1316T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210615107 | |||||||
| chr2:210615233 | A | C | 6 | a0001c0001t0003g0124 a0001c0001t0009g0243 a0001c0001t0009g0244 others(3): Show |
6 | HG01243.hp2 HG02145.hp1 HG03195.hp2 others(3): Show |
intron_variant | MODIFIER | c.2569-1190A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210615233 | |||||||
| chr2:210615374 | C | T | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2569-1049C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210615374 | |||||||
| chr2:210615649 | T | C | 2 | a0002c0002t0003g0222 a0004c0004t0005g0213 |
2 | HG03239.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.2569-774T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210615649 | |||||||
| chr2:210615967 | G | A | 5 | a0001c0001t0008g0098 a0001c0001t0028g0239 a0003c0003t0005g0099 others(2): Show |
5 | HG00738.hp2 HG01361.hp2 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.2569-456G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210615967 | |||||||
| chr2:210616158 | G | T | 1 | a0002c0002t0001g0175 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.2569-265G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210616158 | |||||||
| chr2:210616309 | A | G | 4 | a0001c0001t0008g0098 a0003c0003t0005g0099 a0003c0003t0005g0109 others(1): Show |
4 | HG00738.hp2 HG01361.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.2569-114A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 20/37 | chr2 | 210616309 | |||||||
| chr2:210616713 | A | T | 2 | a0002c0013t0007g0075 a0003c0003t0005g0166 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2687+172A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210616713 | |||||||
| chr2:210616758 | T | G | 1 | a0002c0002t0002g0312 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2687+217T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210616758 | |||||||
| chr2:210616929 | G | A | 8 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.2687+388G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210616929 | |||||||
| chr2:210616990 | C | T | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2687+449C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210616990 | |||||||
| chr2:210617107 | C | G | 1 | a0001c0001t0001g0158 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2687+566C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617107 | |||||||
| chr2:210617252 | C | A | 5 | a0001c0001t0003g0124 a0001c0001t0009g0243 a0001c0001t0009g0244 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.2687+711C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617252 | |||||||
| chr2:210617436 | G | T | 5 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(2): Show |
5 | HG02258.hp1 HG02572.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2687+895G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617436 | |||||||
| chr2:210617549 | T | G | 1 | a0004c0004t0005g0176 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2687+1008T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617549 | |||||||
| chr2:210617572 | A | C | 65 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(62): Show |
67 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(64): Show |
intron_variant | MODIFIER | c.2687+1031A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617572 | |||||||
| chr2:210617583 | G | A | 1 | a0001c0006t0006g0272 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2687+1042G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617583 | |||||||
| chr2:210617676 | G | C | 65 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(62): Show |
67 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(64): Show |
intron_variant | MODIFIER | c.2687+1135G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617676 | |||||||
| chr2:210617685 | G | T | 1 | a0001c0001t0003g0105 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2687+1144G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617685 | |||||||
| chr2:210617774 | T | C | 1 | a0001c0001t0001g0126 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2687+1233T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210617774 | |||||||
| chr2:210618221 | G | C | 4 | a0001c0001t0007g0301 a0001c0001t0007g0302 a0001c0001t0007g0303 others(1): Show |
4 | HG00323.hp1 HG01167.hp2 HG01169.hp2 others(1): Show |
intron_variant | MODIFIER | c.2687+1680G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210618221 | |||||||
| chr2:210618266 | A | G | 1 | a0001c0001t0001g0106 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.2687+1725A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210618266 | |||||||
| chr2:210618486 | C | G | 2 | a0004c0004t0005g0086 a0004c0004t0005g0143 |
2 | HG03704.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2687+1945C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210618486 | |||||||
| chr2:210618643 | A | C | 1 | a0001c0001t0009g0244 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.2687+2102A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210618643 | |||||||
| chr2:210618788 | G | A | 1 | a0003c0003t0004g0047 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.2687+2247G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210618788 | |||||||
| chr2:210618838 | A | G | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2687+2297A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210618838 | |||||||
| chr2:210618984 | G | T | 1 | a0002c0002t0003g0193 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2687+2443G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210618984 | |||||||
| chr2:210619087 | C | T | 4 | a0002c0002t0001g0217 a0002c0002t0001g0219 a0004c0004t0004g0063 others(1): Show |
4 | HG00621.hp1 NA18994.hp2 NA19058.hp1 others(1): Show |
intron_variant | MODIFIER | c.2687+2546C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619087 | |||||||
| chr2:210619098 | T | TGTACTTT others(627): Show |
1 | a0001c0001t0006g0040 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2687+2566_2687+256 others(638): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210619098 | ||||||
| chr2:210619114 | A | C | 1 | a0003c0003t0004g0247 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2687+2573A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619114 | |||||||
| chr2:210619193 | G | A | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.2687+2652G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619193 | |||||||
| chr2:210619253 | G | A | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2687+2712G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619253 | |||||||
| chr2:210619257 | G | T | 1 | a0002c0002t0003g0002 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.2687+2716G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619257 | |||||||
| chr2:210619366 | A | G | 5 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(2): Show |
5 | HG02258.hp1 HG02572.hp2 HG02647.hp2 others(2): Show |
intron_variant | MODIFIER | c.2687+2825A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619366 | |||||||
| chr2:210619624 | T | C | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2687+3083T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619624 | |||||||
| chr2:210619747 | A | G | 7 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(4): Show |
7 | HG02109.hp2 HG02630.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.2687+3206A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210619747 | |||||||
| chr2:210620463 | C | T | 43 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(40): Show |
43 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.2687+3922C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210620463 | |||||||
| chr2:210620683 | T | G | 64 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(61): Show |
66 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(63): Show |
intron_variant | MODIFIER | c.2687+4142T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210620683 | |||||||
| chr2:210620747 | G | T | 1 | a0012c0017t0005g0189 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2687+4206G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210620747 | |||||||
| chr2:210620752 | T | A | 147 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(144): Show |
151 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.2687+4211T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210620752 | |||||||
| chr2:210620829 | G | A | 1 | a0014c0023t0006g0023 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.2687+4288G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210620829 | |||||||
| chr2:210621029 | A | G | 1 | a0002c0009t0007g0073 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2687+4488A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210621029 | |||||||
| chr2:210621072 | C | T | 1 | a0002c0002t0003g0193 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2687+4531C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210621072 | |||||||
| chr2:210621123 | A | G | 1 | a0001c0001t0003g0114 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2687+4582A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210621123 | |||||||
| chr2:210621254 | T | C | 2 | a0002c0002t0012g0007 a0004c0004t0004g0031 |
3 | HG00735.hp2 HG01081.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.2687+4713T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210621254 | |||||||
| chr2:210621644 | T | G | 75 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(72): Show |
77 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(74): Show |
intron_variant | MODIFIER | c.2687+5103T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210621644 | |||||||
| chr2:210621797 | C | G | 1 | a0001c0001t0018g0060 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.2687+5256C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210621797 | |||||||
| chr2:210622005 | A | G | 1 | a0004c0004t0004g0024 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2687+5464A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622005 | |||||||
| chr2:210622144 | G | A | 1 | a0004c0007t0001g0161 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2687+5603G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622144 | |||||||
| chr2:210622270 | C | A | 3 | a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0276 |
3 | HG01243.hp2 HG02145.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2687+5729C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622270 | |||||||
| chr2:210622552 | G | C | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2687+6011G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622552 | |||||||
| chr2:210622555 | T | G | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.2687+6014T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622555 | |||||||
| chr2:210622616 | T | C | 69 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(66): Show |
71 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(68): Show |
intron_variant | MODIFIER | c.2687+6075T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622616 | |||||||
| chr2:210622670 | A | G | 70 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(67): Show |
72 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(69): Show |
intron_variant | MODIFIER | c.2687+6129A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622670 | |||||||
| chr2:210622764 | CT | C | 2 | a0002c0005t0001g0008 a0002c0005t0001g0192 |
3 | NA18945.hp2 NA19005.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.2687+6225delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210622764 | ||||||
| chr2:210622766 | TA | T | 171 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(168): Show |
175 | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(172): Show |
intron_variant | MODIFIER | c.2687+6239delA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210622766 | ||||||
| chr2:210622767 | A | G | 2 | a0002c0005t0001g0008 a0002c0005t0001g0192 |
3 | NA18945.hp2 NA19005.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.2687+6226A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622767 | |||||||
| chr2:210622770 | A | C | 1 | a0001c0030t0007g0077 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2687+6229A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622770 | |||||||
| chr2:210622851 | G | A | 1 | a0002c0005t0003g0184 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2687+6310G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622851 | |||||||
| chr2:210622870 | T | G | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2687+6329T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622870 | |||||||
| chr2:210622889 | G | GT | 6 | a0002c0002t0001g0173 a0002c0009t0003g0159 a0002c0009t0006g0076 others(3): Show |
6 | HG02258.hp1 HG02572.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.2687+6355dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210622889 | ||||||
| chr2:210622976 | T | C | 1 | a0008c0014t0007g0065 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2687+6435T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210622976 | |||||||
| chr2:210623133 | A | G | 38 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0268 others(35): Show |
39 | HG00597.hp2 HG00609.hp2 HG00741.hp1 others(36): Show |
intron_variant | MODIFIER | c.2687+6592A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210623133 | |||||||
| chr2:210623324 | A | G | 1 | a0003c0003t0001g0131 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2687+6783A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210623324 | |||||||
| chr2:210623352 | A | G | 2 | a0003c0003t0004g0256 a0003c0003t0004g0282 |
2 | HG02145.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.2687+6811A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210623352 | |||||||
| chr2:210623366 | G | A | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2687+6825G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210623366 | |||||||
| chr2:210623426 | G | GT | 13 | a0001c0001t0002g0322 a0001c0001t0003g0124 a0001c0001t0006g0040 others(10): Show |
13 | HG00597.hp1 HG00597.hp2 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.2687+6894dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210623426 | ||||||
| chr2:210623677 | T | C | 1 | a0001c0001t0006g0280 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2687+7136T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210623677 | |||||||
| chr2:210623959 | C | A | 69 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(66): Show |
71 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(68): Show |
intron_variant | MODIFIER | c.2687+7418C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210623959 | |||||||
| chr2:210624072 | T | C | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2687+7531T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210624072 | |||||||
| chr2:210624268 | C | A | 1 | a0002c0002t0002g0305 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2687+7727C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210624268 | |||||||
| chr2:210624379 | T | G | 66 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(63): Show |
68 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(65): Show |
intron_variant | MODIFIER | c.2687+7838T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210624379 | |||||||
| chr2:210624484 | T | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2687+7943T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210624484 | |||||||
| chr2:210624543 | A | G | 1 | a0001c0001t0002g0322 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.2687+8002A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210624543 | |||||||
| chr2:210624973 | A | C | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.2687+8432A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210624973 | |||||||
| chr2:210625091 | T | C | 77 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(74): Show |
79 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(76): Show |
intron_variant | MODIFIER | c.2687+8550T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210625091 | |||||||
| chr2:210625480 | G | A | 1 | a0004c0004t0005g0151 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2687+8939G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210625480 | |||||||
| chr2:210625548 | A | G | 3 | a0001c0001t0001g0107 a0001c0001t0002g0030 a0003c0003t0004g0029 |
3 | NA18974.hp2 NA18994.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.2687+9007A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210625548 | |||||||
| chr2:210625952 | G | T | 20 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0268 others(17): Show |
21 | HG00597.hp2 HG00609.hp2 HG02135.hp2 others(18): Show |
intron_variant | MODIFIER | c.2687+9411G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210625952 | |||||||
| chr2:210625975 | G | A | 1 | a0001c0001t0006g0027 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2687+9434G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210625975 | |||||||
| chr2:210626108 | C | G | 1 | a0003c0003t0001g0131 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2687+9567C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626108 | |||||||
| chr2:210626169 | A | G | 2 | a0003c0003t0005g0117 a0003c0003t0005g0118 |
2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.2687+9628A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626169 | |||||||
| chr2:210626175 | C | T | 1 | a0004c0004t0005g0176 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.2687+9634C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626175 | |||||||
| chr2:210626296 | T | G | 77 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0037 others(74): Show |
79 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(76): Show |
intron_variant | MODIFIER | c.2687+9755T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626296 | |||||||
| chr2:210626431 | T | G | 1 | a0001c0006t0006g0020 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2687+9890T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626431 | |||||||
| chr2:210626451 | G | T | 2 | a0001c0030t0007g0077 a0001c0032t0026g0015 |
2 | HG03041.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2687+9910G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626451 | |||||||
| chr2:210626636 | C | T | 3 | a0001c0006t0001g0113 a0002c0002t0003g0004 a0002c0002t0003g0142 |
4 | HG00738.hp1 HG01175.hp2 HG01943.hp2 others(1): Show |
intron_variant | MODIFIER | c.2687+10095C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626636 | |||||||
| chr2:210626667 | C | G | 1 | a0008c0014t0007g0065 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2687+10126C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626667 | |||||||
| chr2:210626740 | G | A | 1 | a0001c0006t0006g0020 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2687+10199G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626740 | |||||||
| chr2:210626862 | T | G | 1 | a0003c0031t0002g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2687+10321T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210626862 | |||||||
| chr2:210627054 | G | A | 4 | a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0276 others(1): Show |
4 | HG01243.hp2 HG02145.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.2687+10513G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627054 | |||||||
| chr2:210627141 | G | A | 2 | a0001c0030t0007g0077 a0001c0032t0026g0015 |
2 | HG03041.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2688-10561G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627141 | |||||||
| chr2:210627154 | G | T | 1 | a0004c0007t0004g0319 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2688-10548G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627154 | |||||||
| chr2:210627368 | A | G | 15 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(12): Show |
15 | HG01884.hp1 HG02109.hp2 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.2688-10334A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627368 | |||||||
| chr2:210627447 | C | T | 2 | a0001c0001t0014g0157 a0003c0018t0002g0235 |
2 | HG02572.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2688-10255C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627447 | |||||||
| chr2:210627628 | C | T | 15 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0003g0128 others(12): Show |
17 | HG02257.hp1 HG02486.hp1 HG02615.hp2 others(14): Show |
intron_variant | MODIFIER | c.2688-10074C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627628 | |||||||
| chr2:210627705 | G | A | 1 | a0001c0001t0006g0036 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2688-9997G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627705 | |||||||
| chr2:210627988 | G | A | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2688-9714G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210627988 | |||||||
| chr2:210628007 | G | A | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2688-9695G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210628007 | |||||||
| chr2:210628077 | A | G | 9 | a0001c0001t0028g0239 a0002c0005t0003g0148 a0002c0005t0003g0150 others(6): Show |
9 | HG01884.hp1 HG02109.hp2 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2688-9625A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210628077 | |||||||
| chr2:210628361 | G | A | 17 | a0002c0002t0001g0202 a0002c0002t0002g0305 a0002c0002t0002g0308 others(14): Show |
17 | HG00639.hp1 HG01069.hp1 HG01192.hp1 others(14): Show |
intron_variant | MODIFIER | c.2688-9341G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210628361 | |||||||
| chr2:210628383 | C | A | 117 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(114): Show |
119 | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(116): Show |
intron_variant | MODIFIER | c.2688-9319C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210628383 | |||||||
| chr2:210628520 | A | T | 1 | a0002c0002t0001g0219 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.2688-9182A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210628520 | |||||||
| chr2:210628914 | T | C | 14 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(11): Show |
14 | HG01884.hp1 HG02257.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.2688-8788T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210628914 | |||||||
| chr2:210629283 | A | G | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2688-8419A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629283 | |||||||
| chr2:210629286 | A | G | 74 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(71): Show |
76 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(73): Show |
intron_variant | MODIFIER | c.2688-8416A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629286 | |||||||
| chr2:210629310 | A | G | 1 | a0001c0001t0003g0105 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2688-8392A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629310 | |||||||
| chr2:210629354 | G | A | 1 | a0002c0002t0003g0193 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2688-8348G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629354 | |||||||
| chr2:210629463 | T | C | 3 | a0002c0005t0006g0079 a0002c0005t0008g0233 a0003c0003t0004g0297 |
3 | HG03491.hp1 HG04199.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.2688-8239T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629463 | |||||||
| chr2:210629530 | C | T | 3 | a0001c0030t0007g0077 a0001c0032t0026g0015 a0004c0004t0004g0311 |
3 | HG02040.hp2 HG03041.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2688-8172C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629530 | |||||||
| chr2:210629561 | C | T | 4 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(1): Show |
4 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2688-8141C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629561 | |||||||
| chr2:210629620 | A | C | 1 | a0001c0001t0003g0132 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2688-8082A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629620 | |||||||
| chr2:210629741 | G | A | 7 | a0001c0001t0001g0228 a0001c0001t0003g0009 a0001c0001t0003g0227 others(4): Show |
8 | NA18952.hp2 NA18966.hp1 NA18971.hp1 others(5): Show |
intron_variant | MODIFIER | c.2688-7961G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629741 | |||||||
| chr2:210629904 | AT | A | 4 | a0001c0001t0007g0070 a0001c0028t0024g0071 a0003c0018t0002g0235 others(1): Show |
4 | HG02451.hp1 HG02572.hp1 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.2688-7796delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210629904 | ||||||
| chr2:210629905 | T | A | 64 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(61): Show |
66 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(63): Show |
intron_variant | MODIFIER | c.2688-7797T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210629905 | |||||||
| chr2:210630057 | A | G | 1 | a0001c0001t0002g0030 | 1 | NA18994.hp1 | intron_variant | MODIFIER | c.2688-7645A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630057 | |||||||
| chr2:210630092 | C | CA | 56 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(53): Show |
56 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(53): Show |
intron_variant | MODIFIER | c.2688-7598dupA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210630092 | ||||||
| chr2:210630095 | A | AC | 4 | a0002c0009t0003g0159 a0002c0009t0006g0076 a0002c0009t0006g0078 others(1): Show |
4 | HG02572.hp2 HG02647.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2688-7607_2688-760 others(5): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630095 | |||||||
| chr2:210630096 | A | AC | 3 | a0001c0001t0006g0040 a0001c0001t0006g0291 a0001c0001t0018g0060 |
3 | HG00597.hp1 HG01261.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.2688-7606_2688-760 others(5): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630096 | |||||||
| chr2:210630096 | A | C | 1 | a0002c0013t0007g0075 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2688-7606A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630096 | |||||||
| chr2:210630097 | A | C | 73 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(70): Show |
75 | HG00323.hp1 HG00438.hp1 HG00558.hp2 others(72): Show |
intron_variant | MODIFIER | c.2688-7605A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630097 | |||||||
| chr2:210630105 | C | A | 1 | a0004c0004t0005g0213 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2688-7597C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630105 | |||||||
| chr2:210630170 | C | T | 1 | a0001c0001t0003g0110 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.2688-7532C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630170 | |||||||
| chr2:210630386 | T | C | 134 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(131): Show |
136 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(133): Show |
intron_variant | MODIFIER | c.2688-7316T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630386 | |||||||
| chr2:210630597 | G | T | 3 | a0001c0001t0018g0060 a0001c0001t0019g0056 a0007c0015t0020g0055 |
3 | HG01168.hp1 HG01261.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.2688-7105G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630597 | |||||||
| chr2:210630863 | C | T | 54 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(51): Show |
54 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.2688-6839C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210630863 | |||||||
| chr2:210631020 | G | GT | 6 | a0001c0001t0002g0287 a0001c0001t0003g0249 a0001c0001t0007g0245 others(3): Show |
6 | HG00621.hp1 HG02109.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.2688-6666dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210631020 | ||||||
| chr2:210631020 | GT | G | 123 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(120): Show |
126 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(123): Show |
intron_variant | MODIFIER | c.2688-6666delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210631020 | ||||||
| chr2:210631021 | T | G | 3 | a0001c0001t0028g0239 a0003c0018t0002g0235 a0004c0007t0005g0226 |
3 | HG02109.hp2 HG02572.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.2688-6681T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210631021 | |||||||
| chr2:210631022 | T | G | 116 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(113): Show |
118 | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(115): Show |
intron_variant | MODIFIER | c.2688-6680T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210631022 | |||||||
| chr2:210631096 | C | A | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2688-6606C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210631096 | |||||||
| chr2:210631361 | G | A | 1 | a0003c0003t0005g0120 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.2688-6341G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210631361 | |||||||
| chr2:210631758 | C | T | 1 | a0002c0009t0006g0076 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2688-5944C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210631758 | |||||||
| chr2:210631809 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2688-5893G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210631809 | |||||||
| chr2:210632690 | A | G | 1 | a0001c0001t0006g0036 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2688-5012A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210632690 | |||||||
| chr2:210632691 | T | C | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2688-5011T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210632691 | |||||||
| chr2:210632974 | C | T | 1 | a0002c0002t0001g0208 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2688-4728C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210632974 | |||||||
| chr2:210633608 | T | A | 55 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(52): Show |
55 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.2688-4094T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210633608 | |||||||
| chr2:210633699 | C | A | 55 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(52): Show |
55 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.2688-4003C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210633699 | |||||||
| chr2:210633719 | A | G | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2688-3983A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210633719 | |||||||
| chr2:210633975 | T | C | 16 | a0001c0001t0007g0070 a0001c0001t0007g0301 a0001c0001t0007g0302 others(13): Show |
16 | HG00323.hp1 HG00733.hp2 HG01167.hp2 others(13): Show |
intron_variant | MODIFIER | c.2688-3727T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210633975 | |||||||
| chr2:210634025 | C | A | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2688-3677C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634025 | |||||||
| chr2:210634026 | G | A | 16 | a0001c0006t0001g0115 a0001c0006t0006g0288 a0002c0002t0001g0006 others(13): Show |
17 | HG00408.hp2 HG00558.hp1 NA18943.hp2 others(14): Show |
intron_variant | MODIFIER | c.2688-3676G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634026 | |||||||
| chr2:210634062 | G | A | 2 | a0003c0003t0002g0021 a0003c0003t0002g0064 |
2 | HG02109.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2688-3640G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634062 | |||||||
| chr2:210634115 | A | G | 2 | a0001c0001t0007g0070 a0001c0028t0024g0071 |
2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2688-3587A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634115 | |||||||
| chr2:210634188 | T | C | 24 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(21): Show |
24 | HG00323.hp1 HG00733.hp2 HG01167.hp2 others(21): Show |
intron_variant | MODIFIER | c.2688-3514T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634188 | |||||||
| chr2:210634206 | G | A | 1 | a0003c0008t0004g0273 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.2688-3496G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634206 | |||||||
| chr2:210634255 | T | C | 1 | a0001c0001t0003g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2688-3447T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634255 | |||||||
| chr2:210634298 | C | T | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2688-3404C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634298 | |||||||
| chr2:210634322 | C | T | 36 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0268 others(33): Show |
37 | HG00597.hp2 HG00609.hp2 HG01069.hp2 others(34): Show |
intron_variant | MODIFIER | c.2688-3380C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634322 | |||||||
| chr2:210634324 | G | A | 1 | a0002c0005t0003g0184 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2688-3378G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634324 | |||||||
| chr2:210634434 | GA | G | 19 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(16): Show |
19 | HG00323.hp1 HG00733.hp2 HG01167.hp2 others(16): Show |
intron_variant | MODIFIER | c.2688-3258delA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | INFO_REALIGN_3_PRIME | chr2 | 210634434 | ||||||
| chr2:210634512 | A | G | 1 | a0004c0007t0005g0226 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2688-3190A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634512 | |||||||
| chr2:210634540 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2688-3162G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634540 | |||||||
| chr2:210634643 | A | G | 78 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(75): Show |
78 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.2688-3059A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634643 | |||||||
| chr2:210634670 | T | A | 78 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(75): Show |
78 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.2688-3032T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634670 | |||||||
| chr2:210634680 | G | T | 54 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(51): Show |
57 | HG00597.hp2 HG00609.hp2 HG01069.hp2 others(54): Show |
intron_variant | MODIFIER | c.2688-3022G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210634680 | |||||||
| chr2:210635005 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2688-2697G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635005 | |||||||
| chr2:210635032 | C | T | 1 | a0001c0001t0007g0070 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2688-2670C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635032 | |||||||
| chr2:210635043 | A | C | 1 | a0002c0002t0001g0225 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.2688-2659A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635043 | |||||||
| chr2:210635141 | C | T | 2 | a0004c0004t0005g0086 a0004c0004t0005g0143 |
2 | HG03704.hp2 HG04115.hp2 |
intron_variant | MODIFIER | c.2688-2561C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635141 | |||||||
| chr2:210635234 | C | T | 1 | a0008c0014t0007g0065 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2688-2468C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635234 | |||||||
| chr2:210635235 | A | G | 78 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(75): Show |
78 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.2688-2467A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635235 | |||||||
| chr2:210635255 | A | C | 78 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(75): Show |
78 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
intron_variant | MODIFIER | c.2688-2447A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635255 | |||||||
| chr2:210635349 | A | G | 5 | a0002c0002t0001g0188 a0002c0002t0001g0208 a0002c0002t0001g0209 others(2): Show |
5 | NA18954.hp1 NA18954.hp2 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.2688-2353A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635349 | |||||||
| chr2:210635453 | A | G | 1 | a0002c0002t0002g0317 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.2688-2249A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635453 | |||||||
| chr2:210635602 | A | G | 1 | a0003c0031t0002g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2688-2100A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635602 | |||||||
| chr2:210635626 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2688-2076G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635626 | |||||||
| chr2:210635921 | AGGGAAAT others(4): Show |
A | 5 | a0001c0001t0007g0061 a0001c0001t0016g0323 a0001c0030t0007g0077 others(2): Show |
5 | HG00140.hp1 HG00639.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.2688-1780_2688-177 others(15): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210635921 | |||||||
| chr2:210636116 | A | G | 19 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0017 others(16): Show |
19 | HG00323.hp1 HG00733.hp2 HG01167.hp2 others(16): Show |
intron_variant | MODIFIER | c.2688-1586A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636116 | |||||||
| chr2:210636163 | A | T | 73 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(70): Show |
73 | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(70): Show |
intron_variant | MODIFIER | c.2688-1539A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636163 | |||||||
| chr2:210636469 | T | G | 3 | a0001c0001t0008g0098 a0003c0003t0005g0109 a0003c0003t0005g0120 |
3 | HG01361.hp2 HG01934.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.2688-1233T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636469 | |||||||
| chr2:210636478 | A | G | 74 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(71): Show |
74 | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(71): Show |
intron_variant | MODIFIER | c.2688-1224A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636478 | |||||||
| chr2:210636599 | A | G | 1 | a0004c0007t0001g0161 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2688-1103A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636599 | |||||||
| chr2:210636600 | C | T | 1 | a0003c0003t0002g0021 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2688-1102C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636600 | |||||||
| chr2:210636609 | G | T | 65 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(62): Show |
65 | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.2688-1093G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636609 | |||||||
| chr2:210636633 | G | A | 2 | a0001c0029t0007g0246 a0015c0022t0002g0022 |
2 | HG02818.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2688-1069G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636633 | |||||||
| chr2:210636713 | A | G | 41 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0268 others(38): Show |
42 | HG00597.hp2 HG00609.hp2 HG00741.hp1 others(39): Show |
intron_variant | MODIFIER | c.2688-989A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636713 | |||||||
| chr2:210636818 | T | C | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2688-884T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636818 | |||||||
| chr2:210636877 | G | A | 48 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(45): Show |
48 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(45): Show |
intron_variant | MODIFIER | c.2688-825G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636877 | |||||||
| chr2:210636880 | G | C | 2 | a0009c0012t0005g0210 a0009c0012t0005g0211 |
2 | NA18945.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.2688-822G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636880 | |||||||
| chr2:210636918 | A | G | 1 | a0001c0001t0014g0157 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.2688-784A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636918 | |||||||
| chr2:210636998 | T | G | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2688-704T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210636998 | |||||||
| chr2:210637187 | A | G | 1 | a0001c0001t0002g0293 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.2688-515A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210637187 | |||||||
| chr2:210637323 | T | A | 87 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(84): Show |
92 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.2688-379T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210637323 | |||||||
| chr2:210637407 | G | A | 87 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(84): Show |
92 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.2688-295G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210637407 | |||||||
| chr2:210637502 | T | C | 1 | a0002c0005t0003g0184 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2688-200T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210637502 | |||||||
| chr2:210637560 | G | A | 1 | a0012c0017t0005g0189 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.2688-142G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210637560 | |||||||
| chr2:210637619 | T | C | 1 | a0001c0001t0010g0299 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.2688-83T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 21/37 | chr2 | 210637619 | |||||||
| chr2:210637870 | C | T | 1 | a0002c0002t0001g0186 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.2829+27C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210637870 | |||||||
| chr2:210637891 | T | A | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2829+48T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210637891 | |||||||
| chr2:210637951 | G | A | 1 | a0002c0002t0001g0191 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2829+108G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210637951 | |||||||
| chr2:210638104 | A | G | 6 | a0001c0001t0007g0016 a0001c0001t0009g0257 a0003c0003t0002g0252 others(3): Show |
6 | HG01884.hp2 HG02145.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.2829+261A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638104 | |||||||
| chr2:210638114 | T | G | 1 | a0003c0003t0004g0295 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.2829+271T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638114 | |||||||
| chr2:210638289 | G | C | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2829+446G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638289 | |||||||
| chr2:210638361 | C | T | 2 | a0002c0002t0003g0002 a0002c0021t0002g0277 |
3 | HG02896.hp1 HG02897.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2829+518C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638361 | |||||||
| chr2:210638386 | T | G | 3 | a0001c0001t0008g0098 a0003c0003t0005g0109 a0003c0003t0005g0120 |
3 | HG01361.hp2 HG01934.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.2829+543T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638386 | |||||||
| chr2:210638391 | A | AT | 9 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.2829+556dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | INFO_REALIGN_3_PRIME | chr2 | 210638391 | ||||||
| chr2:210638525 | T | G | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2830-625T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638525 | |||||||
| chr2:210638526 | T | A | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2830-624T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638526 | |||||||
| chr2:210638588 | C | G | 17 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 others(14): Show |
18 | HG01884.hp1 HG01891.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.2830-562C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638588 | |||||||
| chr2:210638599 | G | A | 83 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(80): Show |
87 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(84): Show |
intron_variant | MODIFIER | c.2830-551G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638599 | |||||||
| chr2:210638675 | A | T | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2830-475A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638675 | |||||||
| chr2:210638690 | C | T | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.2830-460C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638690 | |||||||
| chr2:210638697 | C | A | 1 | a0002c0002t0001g0217 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2830-453C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638697 | |||||||
| chr2:210638747 | C | A | 1 | a0002c0002t0001g0185 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.2830-403C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638747 | |||||||
| chr2:210638777 | C | G | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2830-373C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638777 | |||||||
| chr2:210638832 | G | T | 83 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(80): Show |
87 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(84): Show |
intron_variant | MODIFIER | c.2830-318G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638832 | |||||||
| chr2:210638897 | G | A | 1 | a0001c0001t0003g0105 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2830-253G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638897 | |||||||
| chr2:210638991 | C | G | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2830-159C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210638991 | |||||||
| chr2:210639012 | C | T | 86 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(83): Show |
91 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(88): Show |
intron_variant | MODIFIER | c.2830-138C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210639012 | |||||||
| chr2:210639067 | T | G | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.2830-83T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210639067 | |||||||
| chr2:210639132 | A | G | 3 | a0001c0001t0008g0098 a0003c0003t0005g0109 a0003c0003t0005g0120 |
3 | HG01361.hp2 HG01934.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.2830-18A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 22/37 | chr2 | 210639132 | |||||||
| chr2:210639341 | G | A | 83 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(80): Show |
87 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(84): Show |
intron_variant | MODIFIER | c.2895+126G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639341 | |||||||
| chr2:210639350 | C | T | 85 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(82): Show |
90 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.2895+135C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639350 | |||||||
| chr2:210639351 | G | A | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2895+136G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639351 | |||||||
| chr2:210639378 | C | T | 1 | a0002c0009t0003g0159 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2895+163C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639378 | |||||||
| chr2:210639474 | C | T | 47 | a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0067 others(44): Show |
47 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.2895+259C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639474 | |||||||
| chr2:210639537 | G | A | 2 | a0001c0029t0007g0246 a0015c0022t0002g0022 |
2 | HG02818.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.2895+322G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639537 | |||||||
| chr2:210639591 | C | A | 94 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(91): Show |
99 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.2895+376C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639591 | |||||||
| chr2:210639600 | C | A | 88 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(85): Show |
92 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(89): Show |
intron_variant | MODIFIER | c.2895+385C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639600 | |||||||
| chr2:210639614 | G | A | 1 | a0001c0001t0007g0035 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2896-382G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639614 | |||||||
| chr2:210639618 | C | CA | 64 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0126 others(61): Show |
67 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(64): Show |
intron_variant | MODIFIER | c.2896-352dupA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr2 | 210639618 | ||||||
| chr2:210639618 | C | CAA | 45 | a0001c0001t0001g0130 a0001c0001t0002g0011 a0001c0001t0002g0260 others(42): Show |
46 | HG00597.hp2 HG00609.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.2896-353_2896-352d others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr2 | 210639618 | ||||||
| chr2:210639618 | C | CAAA | 10 | a0001c0001t0002g0268 a0001c0001t0002g0293 a0001c0001t0003g0108 others(7): Show |
10 | HG01069.hp2 HG01952.hp2 HG02135.hp2 others(7): Show |
intron_variant | MODIFIER | c.2896-354_2896-352d others(5): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr2 | 210639618 | ||||||
| chr2:210639618 | CA | C | 7 | a0001c0001t0003g0105 a0001c0029t0007g0246 a0002c0002t0001g0187 others(4): Show |
7 | HG00408.hp1 HG01257.hp2 HG02040.hp1 others(4): Show |
intron_variant | MODIFIER | c.2896-352delA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | INFO_REALIGN_3_PRIME | chr2 | 210639618 | ||||||
| chr2:210639648 | A | C | 95 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(92): Show |
99 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(96): Show |
intron_variant | MODIFIER | c.2896-348A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639648 | |||||||
| chr2:210639651 | A | G | 4 | a0002c0002t0002g0321 a0003c0008t0004g0043 a0003c0008t0005g0100 others(1): Show |
4 | HG01106.hp2 HG01109.hp2 HG01167.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896-345A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639651 | |||||||
| chr2:210639733 | A | G | 3 | a0002c0002t0003g0222 a0002c0002t0015g0183 a0004c0004t0005g0213 |
3 | HG03239.hp1 HG03831.hp1 HG03942.hp2 |
intron_variant | MODIFIER | c.2896-263A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639733 | |||||||
| chr2:210639740 | A | G | 4 | a0001c0001t0007g0061 a0001c0001t0016g0323 a0001c0001t0028g0239 others(1): Show |
4 | HG00140.hp1 HG00639.hp2 HG02109.hp2 others(1): Show |
intron_variant | MODIFIER | c.2896-256A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 23/37 | chr2 | 210639740 | |||||||
| chr2:210640395 | G | A | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2959+336G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210640395 | |||||||
| chr2:210640748 | A | G | 1 | a0002c0005t0003g0184 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.2959+689A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210640748 | |||||||
| chr2:210641363 | C | T | 3 | a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0276 |
3 | HG01243.hp2 HG02145.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.2960-1121C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641363 | |||||||
| chr2:210641401 | C | T | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.2960-1083C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641401 | |||||||
| chr2:210641456 | T | C | 7 | a0001c0001t0002g0278 a0001c0001t0008g0098 a0001c0001t0009g0012 others(4): Show |
8 | HG01361.hp2 HG01934.hp2 HG01952.hp2 others(5): Show |
intron_variant | MODIFIER | c.2960-1028T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641456 | |||||||
| chr2:210641457 | G | A | 1 | a0002c0002t0008g0145 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2960-1027G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641457 | |||||||
| chr2:210641485 | C | T | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2960-999C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641485 | |||||||
| chr2:210641536 | T | C | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2960-948T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641536 | |||||||
| chr2:210641587 | T | C | 85 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(82): Show |
89 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(86): Show |
intron_variant | MODIFIER | c.2960-897T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641587 | |||||||
| chr2:210641762 | A | G | 86 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(83): Show |
90 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(87): Show |
intron_variant | MODIFIER | c.2960-722A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641762 | |||||||
| chr2:210641778 | G | A | 1 | a0001c0001t0007g0061 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2960-706G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641778 | |||||||
| chr2:210641780 | G | A | 85 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(82): Show |
89 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(86): Show |
intron_variant | MODIFIER | c.2960-704G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210641780 | |||||||
| chr2:210642318 | A | G | 3 | a0001c0001t0008g0098 a0003c0003t0005g0109 a0003c0003t0005g0120 |
3 | HG01361.hp2 HG01934.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.2960-166A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 24/37 | chr2 | 210642318 | |||||||
| chr2:210642829 | A | G | 1 | a0001c0001t0028g0239 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.3141+164A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210642829 | |||||||
| chr2:210643056 | T | A | 17 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 others(14): Show |
18 | HG01884.hp1 HG01891.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.3141+391T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643056 | |||||||
| chr2:210643104 | A | G | 1 | a0002c0002t0001g0186 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.3141+439A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643104 | |||||||
| chr2:210643424 | G | A | 16 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 others(13): Show |
17 | HG01884.hp1 HG01891.hp2 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.3141+759G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643424 | |||||||
| chr2:210643470 | C | G | 82 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(79): Show |
86 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(83): Show |
intron_variant | MODIFIER | c.3141+805C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643470 | |||||||
| chr2:210643514 | C | A | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3141+849C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643514 | |||||||
| chr2:210643529 | A | G | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3141+864A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643529 | |||||||
| chr2:210643535 | C | T | 4 | a0001c0001t0002g0278 a0001c0001t0009g0012 a0001c0001t0009g0242 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.3141+870C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643535 | |||||||
| chr2:210643536 | G | A | 1 | a0004c0004t0005g0151 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.3141+871G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643536 | |||||||
| chr2:210643563 | G | A | 88 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(85): Show |
93 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.3141+898G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643563 | |||||||
| chr2:210643755 | T | A | 3 | a0001c0001t0008g0098 a0003c0003t0005g0109 a0003c0003t0005g0120 |
3 | HG01361.hp2 HG01934.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.3141+1090T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643755 | |||||||
| chr2:210643802 | C | T | 2 | a0001c0029t0007g0246 a0015c0022t0002g0022 |
2 | HG02818.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.3141+1137C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643802 | |||||||
| chr2:210643811 | A | G | 1 | a0003c0003t0005g0082 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.3141+1146A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643811 | |||||||
| chr2:210643846 | G | C | 88 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(85): Show |
93 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.3141+1181G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643846 | |||||||
| chr2:210643854 | C | G | 17 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 others(14): Show |
18 | HG01884.hp1 HG01891.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.3141+1189C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210643854 | |||||||
| chr2:210644220 | T | C | 1 | a0003c0003t0004g0025 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.3141+1555T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644220 | |||||||
| chr2:210644276 | C | A | 79 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(76): Show |
83 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(80): Show |
intron_variant | MODIFIER | c.3141+1611C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644276 | |||||||
| chr2:210644416 | A | G | 1 | a0001c0006t0001g0119 | 1 | NA19054.hp1 | intron_variant | MODIFIER | c.3141+1751A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644416 | |||||||
| chr2:210644462 | A | C | 6 | a0001c0001t0007g0034 a0001c0001t0007g0053 a0001c0001t0010g0051 others(3): Show |
6 | HG00733.hp1 HG00735.hp1 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.3141+1797A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644462 | |||||||
| chr2:210644501 | T | C | 1 | a0001c0001t0014g0157 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3141+1836T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644501 | |||||||
| chr2:210644567 | A | C | 1 | a0001c0001t0013g0050 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.3141+1902A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644567 | |||||||
| chr2:210644794 | G | GTATGACT others(16): Show |
2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3141+2130_3141+213 others(27): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr2 | 210644794 | ||||||
| chr2:210644807 | C | G | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3141+2142C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644807 | |||||||
| chr2:210644859 | A | G | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3141+2194A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210644859 | |||||||
| chr2:210644893 | ATTAATGG others(12): Show |
A | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3141+2245_3141+226 others(23): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr2 | 210644893 | ||||||
| chr2:210645095 | G | T | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3141+2430G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645095 | |||||||
| chr2:210645150 | T | C | 1 | a0001c0001t0014g0157 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.3141+2485T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645150 | |||||||
| chr2:210645205 | A | T | 89 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(86): Show |
93 | HG00140.hp1 HG00597.hp2 HG00609.hp2 others(90): Show |
intron_variant | MODIFIER | c.3141+2540A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645205 | |||||||
| chr2:210645280 | C | T | 1 | a0001c0001t0003g0135 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.3142-2583C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645280 | |||||||
| chr2:210645281 | G | A | 1 | a0001c0001t0002g0268 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.3142-2582G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645281 | |||||||
| chr2:210645285 | A | G | 5 | a0001c0001t0003g0124 a0001c0001t0009g0243 a0001c0001t0009g0244 others(2): Show |
5 | HG01243.hp2 HG02145.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.3142-2578A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645285 | |||||||
| chr2:210645517 | G | A | 2 | a0003c0031t0002g0018 a0008c0014t0007g0065 |
2 | HG02258.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.3142-2346G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645517 | |||||||
| chr2:210645568 | G | T | 1 | a0001c0001t0001g0101 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.3142-2295G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645568 | |||||||
| chr2:210645574 | C | T | 3 | a0001c0001t0007g0254 a0003c0003t0004g0255 a0008c0014t0007g0066 |
3 | HG02280.hp1 HG02559.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.3142-2289C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645574 | |||||||
| chr2:210645605 | G | T | 1 | a0001c0030t0007g0077 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3142-2258G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645605 | |||||||
| chr2:210645609 | C | G | 1 | a0001c0001t0006g0291 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3142-2254C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645609 | |||||||
| chr2:210645638 | C | T | 39 | a0001c0001t0002g0011 a0001c0001t0002g0260 a0001c0001t0002g0268 others(36): Show |
40 | HG00597.hp2 HG00609.hp2 HG01069.hp2 others(37): Show |
intron_variant | MODIFIER | c.3142-2225C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645638 | |||||||
| chr2:210645749 | C | T | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3142-2114C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645749 | |||||||
| chr2:210645804 | T | C | 150 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0002g0011 others(147): Show |
155 | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(152): Show |
intron_variant | MODIFIER | c.3142-2059T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645804 | |||||||
| chr2:210645970 | T | C | 1 | a0001c0001t0006g0291 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.3142-1893T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210645970 | |||||||
| chr2:210646474 | C | G | 3 | a0001c0001t0007g0061 a0001c0001t0016g0323 a0004c0007t0004g0319 |
3 | HG00140.hp1 HG00639.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.3142-1389C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210646474 | |||||||
| chr2:210646727 | C | T | 2 | a0001c0001t0008g0129 a0001c0030t0007g0077 |
2 | HG03041.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3142-1136C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210646727 | |||||||
| chr2:210646775 | G | C | 260 | a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0001t0001g0126 others(257): Show |
270 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(267): Show |
intron_variant | MODIFIER | c.3142-1088G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210646775 | |||||||
| chr2:210646800 | G | A | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.3142-1063G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210646800 | |||||||
| chr2:210646842 | C | T | 5 | a0002c0009t0006g0076 a0002c0009t0006g0078 a0002c0013t0006g0074 others(2): Show |
6 | HG01891.hp2 HG02257.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.3142-1021C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210646842 | |||||||
| chr2:210646867 | TCTCACGC others(9): Show |
T | 7 | a0002c0005t0003g0136 a0002c0009t0003g0159 a0002c0009t0006g0076 others(4): Show |
8 | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.3142-990_3142-975d others(18): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr2 | 210646867 | ||||||
| chr2:210646935 | AT | A | 11 | a0001c0001t0001g0101 a0001c0001t0006g0028 a0001c0001t0008g0129 others(8): Show |
12 | HG00408.hp2 HG00558.hp2 HG02109.hp1 others(9): Show |
intron_variant | MODIFIER | c.3142-917delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | INFO_REALIGN_3_PRIME | chr2 | 210646935 | ||||||
| chr2:210647054 | G | A | 308 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(305): Show |
321 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(318): Show |
intron_variant | MODIFIER | c.3142-809G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210647054 | |||||||
| chr2:210647169 | G | C | 2 | a0002c0005t0006g0079 a0003c0031t0002g0018 |
2 | HG03225.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.3142-694G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210647169 | |||||||
| chr2:210647445 | A | T | 82 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(79): Show |
85 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(82): Show |
intron_variant | MODIFIER | c.3142-418A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210647445 | |||||||
| chr2:210647460 | A | G | 1 | a0002c0009t0003g0159 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3142-403A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210647460 | |||||||
| chr2:210647648 | G | A | 1 | a0001c0001t0002g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.3142-215G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210647648 | |||||||
| chr2:210647713 | G | A | 44 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0228 others(41): Show |
46 | HG01884.hp2 HG02135.hp2 HG02145.hp2 others(43): Show |
intron_variant | MODIFIER | c.3142-150G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210647713 | |||||||
| chr2:210647744 | G | C | 9 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0008g0129 others(6): Show |
9 | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.3142-119G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 25/37 | chr2 | 210647744 | |||||||
| chr2:210648343 | C | T | 2 | a0001c0001t0007g0250 a0001c0001t0025g0049 |
2 | HG00741.hp1 HG02293.hp1 |
intron_variant | MODIFIER | c.3337-130C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 26/37 | chr2 | 210648343 | |||||||
| chr2:210648669 | A | G | 2 | a0001c0001t0003g0128 a0001c0001t0003g0249 |
2 | HG02257.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.3404+129A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210648669 | |||||||
| chr2:210648691 | A | G | 4 | a0001c0001t0009g0012 a0001c0001t0009g0242 a0001c0001t0009g0279 others(1): Show |
5 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.3404+151A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210648691 | |||||||
| chr2:210648824 | C | T | 55 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0103 others(52): Show |
57 | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.3404+284C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210648824 | |||||||
| chr2:210648961 | C | A | 318 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(315): Show |
331 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(328): Show |
intron_variant | MODIFIER | c.3404+421C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210648961 | |||||||
| chr2:210649045 | A | T | 1 | a0003c0003t0001g0003 | 2 | HG02717.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.3404+505A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210649045 | |||||||
| chr2:210649105 | C | A | 1 | a0008c0014t0007g0066 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.3404+565C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210649105 | |||||||
| chr2:210649474 | C | T | 43 | a0001c0001t0001g0102 a0001c0001t0003g0133 a0001c0001t0006g0036 others(40): Show |
43 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(40): Show |
intron_variant | MODIFIER | c.3405-889C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210649474 | |||||||
| chr2:210649768 | A | G | 88 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(85): Show |
91 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.3405-595A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210649768 | |||||||
| chr2:210649811 | T | G | 1 | a0003c0003t0001g0131 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3405-552T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210649811 | |||||||
| chr2:210649839 | G | A | 60 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0103 others(57): Show |
63 | HG00438.hp1 HG00558.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.3405-524G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210649839 | |||||||
| chr2:210649912 | G | A | 1 | a0001c0024t0017g0285 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.3405-451G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210649912 | |||||||
| chr2:210650093 | A | G | 1 | a0001c0001t0007g0281 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.3405-270A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210650093 | |||||||
| chr2:210650235 | A | G | 2 | a0003c0003t0005g0081 a0003c0003t0005g0082 |
2 | HG00438.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.3405-128A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210650235 | |||||||
| chr2:210650271 | G | T | 63 | a0001c0001t0001g0102 a0001c0001t0003g0133 a0001c0001t0006g0036 others(60): Show |
65 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(62): Show |
intron_variant | MODIFIER | c.3405-92G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210650271 | |||||||
| chr2:210650334 | A | T | 137 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(134): Show |
142 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(139): Show |
intron_variant | MODIFIER | c.3405-29A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 27/37 | chr2 | 210650334 | |||||||
| chr2:210650526 | C | A | 2 | a0003c0003t0004g0251 a0003c0003t0004g0326 |
2 | HG02886.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.3480+88C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210650526 | |||||||
| chr2:210650878 | C | CT | 215 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(212): Show |
226 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(223): Show |
intron_variant | MODIFIER | c.3480+441dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr2 | 210650878 | ||||||
| chr2:210650889 | T | C | 6 | a0001c0001t0003g0132 a0001c0001t0007g0017 a0001c0001t0011g0154 others(3): Show |
6 | HG00639.hp2 HG01109.hp1 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.3480+451T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210650889 | |||||||
| chr2:210651166 | G | A | 1 | a0001c0001t0007g0250 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.3480+728G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651166 | |||||||
| chr2:210651467 | C | T | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3480+1029C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651467 | |||||||
| chr2:210651475 | G | T | 1 | a0001c0001t0003g0105 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.3480+1037G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651475 | |||||||
| chr2:210651494 | C | T | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3480+1056C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651494 | |||||||
| chr2:210651529 | G | A | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3480+1091G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651529 | |||||||
| chr2:210651559 | A | G | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3480+1121A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651559 | |||||||
| chr2:210651587 | G | A | 7 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(4): Show |
7 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(4): Show |
intron_variant | MODIFIER | c.3480+1149G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651587 | |||||||
| chr2:210651662 | G | A | 1 | a0003c0018t0002g0235 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3480+1224G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651662 | |||||||
| chr2:210651780 | C | T | 27 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(24): Show |
27 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.3480+1342C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651780 | |||||||
| chr2:210651818 | T | C | 7 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(4): Show |
7 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(4): Show |
intron_variant | MODIFIER | c.3480+1380T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651818 | |||||||
| chr2:210651857 | G | A | 1 | a0001c0001t0001g0163 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.3480+1419G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651857 | |||||||
| chr2:210651887 | G | A | 1 | a0001c0001t0003g0125 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.3480+1449G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651887 | |||||||
| chr2:210651901 | A | G | 47 | a0001c0001t0006g0280 a0001c0001t0007g0281 a0001c0001t0008g0123 others(44): Show |
49 | HG00733.hp2 HG01069.hp2 HG01168.hp2 others(46): Show |
intron_variant | MODIFIER | c.3480+1463A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651901 | |||||||
| chr2:210651906 | C | T | 56 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0103 others(53): Show |
58 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(55): Show |
intron_variant | MODIFIER | c.3480+1468C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210651906 | |||||||
| chr2:210652146 | T | C | 47 | a0001c0001t0006g0280 a0001c0001t0007g0281 a0001c0001t0008g0123 others(44): Show |
49 | HG00733.hp2 HG01069.hp2 HG01168.hp2 others(46): Show |
intron_variant | MODIFIER | c.3480+1708T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210652146 | |||||||
| chr2:210652699 | T | G | 104 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0228 others(101): Show |
111 | HG00609.hp2 HG00733.hp2 HG01069.hp2 others(108): Show |
intron_variant | MODIFIER | c.3481-1326T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210652699 | |||||||
| chr2:210652717 | G | T | 1 | a0002c0002t0001g0175 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.3481-1308G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210652717 | |||||||
| chr2:210652747 | A | G | 2 | a0002c0009t0007g0073 a0002c0013t0007g0075 |
2 | HG02572.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.3481-1278A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210652747 | |||||||
| chr2:210653216 | G | T | 1 | a0001c0001t0003g0094 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.3481-809G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653216 | |||||||
| chr2:210653353 | A | G | 2 | a0001c0001t0007g0017 a0001c0001t0011g0154 |
2 | HG03486.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.3481-672A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653353 | |||||||
| chr2:210653627 | G | C | 1 | a0004c0004t0005g0218 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.3481-398G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653627 | |||||||
| chr2:210653750 | C | T | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.3481-275C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653750 | |||||||
| chr2:210653772 | C | A | 2 | a0004c0007t0005g0005 a0004c0007t0005g0162 |
3 | HG01891.hp2 HG02622.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.3481-253C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653772 | |||||||
| chr2:210653793 | G | T | 6 | a0003c0003t0001g0003 a0003c0003t0002g0283 a0004c0007t0005g0005 others(3): Show |
9 | HG01891.hp2 HG02622.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.3481-232G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653793 | |||||||
| chr2:210653843 | A | G | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3481-182A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653843 | |||||||
| chr2:210653875 | A | C | 2 | a0001c0001t0007g0070 a0001c0028t0024g0071 |
2 | HG02451.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.3481-150A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653875 | |||||||
| chr2:210653945 | T | C | 1 | a0002c0002t0001g0179 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.3481-80T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653945 | |||||||
| chr2:210653998 | C | T | 1 | a0001c0006t0006g0288 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.3481-27C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210653998 | |||||||
| chr2:210654000 | G | A | 1 | a0002c0002t0011g0178 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.3481-25G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210654000 | |||||||
| chr2:210654017 | C | T | 1 | a0003c0003t0004g0057 | 1 | HG01496.hp1 | splice_region_variant&intron_variant | LOW | c.3481-8C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210654017 | |||||||
| chr2:210654018 | G | A | 2 | a0001c0006t0006g0272 a0002c0002t0015g0088 |
2 | HG02738.hp2 HG03834.hp2 |
splice_region_variant&intron_variant | LOW | c.3481-7G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 28/37 | chr2 | 210654018 | |||||||
| chr2:210654138 | T | G | 1 | a0001c0001t0016g0323 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.3558+36T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654138 | |||||||
| chr2:210654140 | C | G | 1 | a0003c0003t0001g0131 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3558+38C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654140 | |||||||
| chr2:210654268 | G | A | 1 | a0004c0004t0005g0213 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3558+166G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654268 | |||||||
| chr2:210654308 | A | C | 6 | a0003c0003t0001g0003 a0003c0003t0002g0283 a0004c0007t0005g0005 others(3): Show |
9 | HG01891.hp2 HG02622.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.3558+206A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654308 | |||||||
| chr2:210654580 | A | T | 1 | a0001c0001t0002g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.3558+478A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654580 | |||||||
| chr2:210654638 | A | C | 1 | a0001c0001t0001g0163 | 1 | NA18981.hp2 | intron_variant | MODIFIER | c.3558+536A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654638 | |||||||
| chr2:210654643 | G | A | 9 | a0001c0001t0002g0037 a0002c0002t0001g0202 a0002c0002t0001g0208 others(6): Show |
9 | NA18948.hp2 NA18966.hp2 NA18992.hp1 others(6): Show |
intron_variant | MODIFIER | c.3558+541G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654643 | |||||||
| chr2:210654802 | A | G | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3558+700A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210654802 | |||||||
| chr2:210655075 | CTTT | C | 23 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(20): Show |
23 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.3558+979_3558+981d others(5): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr2 | 210655075 | ||||||
| chr2:210655189 | C | T | 2 | a0001c0001t0006g0325 a0001c0001t0006g0327 |
2 | HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.3558+1087C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210655189 | |||||||
| chr2:210655231 | G | A | 3 | a0002c0005t0003g0148 a0002c0005t0003g0150 a0002c0005t0003g0153 |
3 | HG01884.hp1 HG02895.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.3558+1129G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210655231 | |||||||
| chr2:210655524 | TG | T | 49 | a0001c0001t0001g0102 a0001c0001t0003g0133 a0001c0001t0006g0036 others(46): Show |
49 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(46): Show |
intron_variant | MODIFIER | c.3559-997delG | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr2 | 210655524 | ||||||
| chr2:210655671 | T | C | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3559-854T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210655671 | |||||||
| chr2:210655872 | C | A | 1 | a0002c0002t0001g0214 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.3559-653C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210655872 | |||||||
| chr2:210655971 | A | C | 2 | a0004c0004t0002g0013 a0004c0004t0002g0014 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.3559-554A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210655971 | |||||||
| chr2:210656064 | T | C | 27 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(24): Show |
27 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.3559-461T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210656064 | |||||||
| chr2:210656133 | C | T | 1 | a0001c0001t0006g0036 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.3559-392C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210656133 | |||||||
| chr2:210656351 | C | G | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3559-174C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | chr2 | 210656351 | |||||||
| chr2:210656503 | CT | C | 316 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(313): Show |
329 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(326): Show |
splice_region_variant&intron_variant | LOW | c.3559-7delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 29/37 | INFO_REALIGN_3_PRIME | chr2 | 210656503 | ||||||
| chr2:210656665 | A | C | 1 | a0002c0002t0003g0139 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.3666+33A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210656665 | |||||||
| chr2:210656693 | G | GT | 61 | a0001c0001t0003g0114 a0001c0001t0006g0041 a0001c0001t0006g0280 others(58): Show |
64 | HG00323.hp1 HG00733.hp2 HG00735.hp2 others(61): Show |
intron_variant | MODIFIER | c.3666+77dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr2 | 210656693 | ||||||
| chr2:210656693 | G | GTT | 8 | a0002c0002t0003g0215 a0002c0005t0006g0079 a0003c0003t0001g0003 others(5): Show |
11 | HG01891.hp2 HG02622.hp2 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.3666+76_3666+77dup others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr2 | 210656693 | ||||||
| chr2:210656693 | GT | G | 12 | a0001c0001t0003g0124 a0001c0001t0006g0325 a0001c0001t0006g0327 others(9): Show |
12 | HG01243.hp2 HG01943.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.3666+77delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr2 | 210656693 | ||||||
| chr2:210656698 | T | C | 3 | a0001c0001t0008g0098 a0003c0003t0005g0109 a0003c0003t0005g0120 |
3 | HG01361.hp2 HG01934.hp2 HG01952.hp2 |
intron_variant | MODIFIER | c.3666+66T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210656698 | |||||||
| chr2:210656765 | C | G | 1 | a0004c0007t0004g0319 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.3666+133C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210656765 | |||||||
| chr2:210656889 | G | A | 2 | a0003c0003t0002g0021 a0003c0003t0002g0252 |
2 | HG02109.hp1 HG02615.hp1 |
intron_variant | MODIFIER | c.3666+257G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210656889 | |||||||
| chr2:210656954 | G | C | 27 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(24): Show |
27 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.3666+322G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210656954 | |||||||
| chr2:210657052 | T | G | 2 | a0003c0003t0002g0237 a0004c0004t0005g0194 |
2 | HG03540.hp2 NA19077.hp2 |
intron_variant | MODIFIER | c.3666+420T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657052 | |||||||
| chr2:210657198 | T | C | 319 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(316): Show |
332 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(329): Show |
intron_variant | MODIFIER | c.3666+566T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657198 | |||||||
| chr2:210657310 | C | CT | 13 | a0001c0001t0007g0245 a0001c0006t0002g0292 a0002c0002t0003g0216 others(10): Show |
15 | HG02071.hp1 HG02280.hp2 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.3666+695dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr2 | 210657310 | ||||||
| chr2:210657334 | G | T | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3666+702G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657334 | |||||||
| chr2:210657368 | T | C | 1 | a0003c0003t0005g0112 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.3666+736T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657368 | |||||||
| chr2:210657502 | G | C | 1 | a0002c0009t0003g0159 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3666+870G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657502 | |||||||
| chr2:210657732 | C | T | 11 | a0001c0001t0007g0016 a0001c0001t0007g0254 a0001c0001t0009g0257 others(8): Show |
11 | HG01884.hp2 HG02145.hp2 HG02258.hp2 others(8): Show |
intron_variant | MODIFIER | c.3667-867C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657732 | |||||||
| chr2:210657763 | T | A | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3667-836T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657763 | |||||||
| chr2:210657819 | G | A | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3667-780G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657819 | |||||||
| chr2:210657827 | GA | G | 5 | a0001c0001t0009g0012 a0001c0001t0009g0242 a0001c0001t0009g0279 others(2): Show |
6 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.3667-766delA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | INFO_REALIGN_3_PRIME | chr2 | 210657827 | ||||||
| chr2:210657882 | T | C | 1 | a0001c0001t0002g0011 | 2 | HG03491.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.3667-717T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657882 | |||||||
| chr2:210657974 | T | C | 1 | a0001c0001t0003g0114 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.3667-625T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210657974 | |||||||
| chr2:210658288 | C | T | 2 | a0002c0009t0007g0073 a0002c0013t0007g0075 |
2 | HG02572.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.3667-311C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210658288 | |||||||
| chr2:210658439 | A | G | 215 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(212): Show |
223 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(220): Show |
intron_variant | MODIFIER | c.3667-160A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 30/37 | chr2 | 210658439 | |||||||
| chr2:210658733 | C | T | 49 | a0001c0001t0001g0102 a0001c0001t0003g0133 a0001c0001t0006g0036 others(46): Show |
49 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(46): Show |
intron_variant | MODIFIER | c.3756+45C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210658733 | |||||||
| chr2:210658846 | T | C | 2 | a0002c0009t0007g0073 a0002c0013t0007g0075 |
2 | HG02572.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.3756+158T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210658846 | |||||||
| chr2:210658945 | C | G | 13 | a0001c0001t0001g0228 a0001c0001t0003g0009 a0001c0001t0003g0108 others(10): Show |
14 | HG02165.hp2 NA18942.hp2 NA18948.hp1 others(11): Show |
intron_variant | MODIFIER | c.3756+257C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210658945 | |||||||
| chr2:210658991 | T | TAAATGGA others(5): Show |
1 | a0002c0002t0001g0202 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.3756+304_3756+315d others(14): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr2 | 210658991 | ||||||
| chr2:210659276 | C | A | 2 | a0001c0001t0008g0129 a0001c0030t0007g0077 |
2 | HG03041.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.3756+588C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210659276 | |||||||
| chr2:210659298 | G | A | 1 | a0001c0001t0003g0133 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3756+610G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210659298 | |||||||
| chr2:210659472 | C | A | 9 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0008g0129 others(6): Show |
9 | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.3756+784C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210659472 | |||||||
| chr2:210659604 | A | C | 9 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0008g0129 others(6): Show |
9 | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.3757-881A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210659604 | |||||||
| chr2:210660429 | A | T | 1 | a0002c0002t0001g0006 | 2 | NA18990.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.3757-56A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 31/37 | chr2 | 210660429 | |||||||
| chr2:210660696 | A | G | 2 | a0001c0001t0016g0323 a0004c0007t0004g0319 |
2 | HG00639.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.3927+41A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210660696 | |||||||
| chr2:210660804 | T | C | 1 | a0003c0003t0004g0255 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3927+149T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210660804 | |||||||
| chr2:210660833 | T | C | 1 | a0002c0002t0003g0222 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.3927+178T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210660833 | |||||||
| chr2:210660860 | C | T | 6 | a0001c0001t0007g0016 a0001c0001t0009g0257 a0003c0003t0004g0251 others(3): Show |
6 | HG01884.hp2 HG02145.hp2 HG02258.hp2 others(3): Show |
intron_variant | MODIFIER | c.3927+205C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210660860 | |||||||
| chr2:210660961 | T | C | 2 | a0004c0007t0005g0005 a0004c0007t0005g0162 |
3 | HG01891.hp2 HG02622.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.3927+306T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210660961 | |||||||
| chr2:210661040 | G | A | 60 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0103 others(57): Show |
63 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(60): Show |
intron_variant | MODIFIER | c.3927+385G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661040 | |||||||
| chr2:210661153 | C | T | 9 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0008g0129 others(6): Show |
9 | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.3927+498C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661153 | |||||||
| chr2:210661189 | A | C | 34 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0228 others(31): Show |
36 | HG00609.hp2 HG01516.hp2 HG02135.hp2 others(33): Show |
intron_variant | MODIFIER | c.3927+534A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661189 | |||||||
| chr2:210661191 | C | A | 147 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(144): Show |
149 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(146): Show |
intron_variant | MODIFIER | c.3927+536C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661191 | |||||||
| chr2:210661250 | C | T | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3927+595C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661250 | |||||||
| chr2:210661402 | A | G | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3927+747A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661402 | |||||||
| chr2:210661471 | C | T | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3927+816C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661471 | |||||||
| chr2:210661472 | G | A | 1 | a0001c0001t0001g0092 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.3927+817G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661472 | |||||||
| chr2:210661542 | A | G | 2 | a0003c0003t0002g0283 a0006c0011t0001g0248 |
2 | HG02922.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3927+887A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661542 | |||||||
| chr2:210661663 | C | T | 1 | a0001c0028t0024g0071 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.3927+1008C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661663 | |||||||
| chr2:210661856 | T | C | 1 | a0001c0001t0001g0130 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.3927+1201T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661856 | |||||||
| chr2:210661903 | C | CT | 63 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0228 others(60): Show |
65 | HG00609.hp2 HG00733.hp2 HG01109.hp2 others(62): Show |
intron_variant | MODIFIER | c.3928-1200dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr2 | 210661903 | ||||||
| chr2:210661903 | CT | C | 82 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0103 others(79): Show |
90 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(87): Show |
intron_variant | MODIFIER | c.3928-1200delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr2 | 210661903 | ||||||
| chr2:210661934 | C | T | 1 | a0001c0029t0007g0246 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3928-1189C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661934 | |||||||
| chr2:210661945 | A | G | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3928-1178A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210661945 | |||||||
| chr2:210662030 | A | G | 1 | a0002c0009t0003g0159 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.3928-1093A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210662030 | |||||||
| chr2:210662115 | C | T | 1 | a0003c0003t0004g0270 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.3928-1008C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210662115 | |||||||
| chr2:210662167 | C | T | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.3928-956C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210662167 | |||||||
| chr2:210662198 | A | T | 58 | a0001c0001t0006g0280 a0001c0001t0007g0245 a0001c0001t0007g0281 others(55): Show |
64 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(61): Show |
intron_variant | MODIFIER | c.3928-925A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210662198 | |||||||
| chr2:210662592 | C | T | 2 | a0003c0003t0004g0059 a0004c0004t0004g0307 |
2 | HG01358.hp1 HG01952.hp1 |
intron_variant | MODIFIER | c.3928-531C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210662592 | |||||||
| chr2:210662840 | A | G | 4 | a0001c0006t0002g0292 a0002c0002t0001g0185 a0002c0002t0001g0186 others(1): Show |
6 | HG02071.hp1 HG02523.hp2 NA18965.hp2 others(3): Show |
intron_variant | MODIFIER | c.3928-283A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210662840 | |||||||
| chr2:210662873 | C | T | 1 | a0014c0023t0006g0023 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.3928-250C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210662873 | |||||||
| chr2:210662992 | A | AT | 58 | a0001c0001t0006g0280 a0001c0001t0007g0245 a0001c0001t0007g0281 others(55): Show |
64 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(61): Show |
intron_variant | MODIFIER | c.3928-125dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr2 | 210662992 | ||||||
| chr2:210663103 | GT | G | 283 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(280): Show |
293 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(290): Show |
splice_region_variant&intron_variant | LOW | c.3928-8delT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr2 | 210663103 | ||||||
| chr2:210663103 | GTT | G | 6 | a0003c0003t0001g0003 a0003c0003t0002g0283 a0004c0007t0005g0005 others(3): Show |
9 | HG01891.hp2 HG02622.hp2 HG02717.hp1 others(6): Show |
splice_region_variant&intron_variant | LOW | c.3928-9_3928-8delTT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr2 | 210663103 | ||||||
| chr2:210663108 | T | C | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.3928-15T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 32/37 | chr2 | 210663108 | |||||||
| chr2:210663277 | T | C | 5 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(2): Show |
5 | HG01081.hp2 HG01361.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.4002+80T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663277 | |||||||
| chr2:210663355 | C | T | 4 | a0001c0006t0002g0042 a0002c0002t0001g0167 a0002c0002t0001g0168 others(1): Show |
4 | HG02135.hp1 HG02165.hp1 NA18612.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+158C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663355 | |||||||
| chr2:210663411 | T | C | 1 | a0002c0009t0003g0159 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.4002+214T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663411 | |||||||
| chr2:210663477 | T | C | 4 | a0001c0001t0002g0260 a0001c0001t0002g0271 a0001c0001t0006g0241 others(1): Show |
4 | HG00609.hp2 NA18612.hp1 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+280T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663477 | |||||||
| chr2:210663483 | G | T | 1 | a0003c0003t0004g0255 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.4002+286G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663483 | |||||||
| chr2:210663585 | A | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+388A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663585 | |||||||
| chr2:210663672 | TC | T | 56 | a0001c0001t0006g0280 a0001c0001t0007g0245 a0001c0001t0007g0281 others(53): Show |
62 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(59): Show |
intron_variant | MODIFIER | c.4002+477delC | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | 210663672 | ||||||
| chr2:210663705 | G | A | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4002+508G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663705 | |||||||
| chr2:210663788 | A | G | 3 | a0001c0001t0003g0124 a0002c0009t0006g0076 a0002c0009t0006g0078 |
3 | HG02647.hp2 HG02922.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.4002+591A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663788 | |||||||
| chr2:210663789 | G | C | 1 | a0011c0027t0016g0300 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.4002+592G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663789 | |||||||
| chr2:210663903 | C | T | 1 | a0001c0001t0006g0241 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.4002+706C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663903 | |||||||
| chr2:210663952 | A | T | 1 | a0002c0002t0001g0202 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.4002+755A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663952 | |||||||
| chr2:210663962 | A | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+765A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663962 | |||||||
| chr2:210663982 | T | C | 1 | a0002c0002t0001g0167 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.4002+785T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663982 | |||||||
| chr2:210663985 | A | C | 43 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0228 others(40): Show |
45 | HG00609.hp2 HG01243.hp2 HG01516.hp2 others(42): Show |
intron_variant | MODIFIER | c.4002+788A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210663985 | |||||||
| chr2:210664150 | A | G | 1 | a0004c0004t0004g0024 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.4002+953A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664150 | |||||||
| chr2:210664163 | A | C | 1 | a0002c0002t0001g0234 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.4002+966A>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664163 | |||||||
| chr2:210664184 | A | G | 6 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(3): Show |
6 | HG01081.hp2 HG01361.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.4002+987A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664184 | |||||||
| chr2:210664257 | A | G | 5 | a0001c0001t0006g0045 a0002c0002t0001g0181 a0003c0003t0004g0044 others(2): Show |
5 | HG00621.hp2 NA18945.hp1 NA19067.hp2 others(2): Show |
intron_variant | MODIFIER | c.4002+1060A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664257 | |||||||
| chr2:210664355 | A | G | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4002+1158A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664355 | |||||||
| chr2:210664370 | G | A | 1 | a0001c0001t0008g0098 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.4002+1173G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664370 | |||||||
| chr2:210664397 | C | T | 59 | a0001c0001t0006g0280 a0001c0001t0007g0245 a0001c0001t0007g0281 others(56): Show |
65 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(62): Show |
intron_variant | MODIFIER | c.4002+1200C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664397 | |||||||
| chr2:210664428 | T | C | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+1231T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664428 | |||||||
| chr2:210664493 | C | T | 149 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(146): Show |
151 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.4002+1296C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664493 | |||||||
| chr2:210664500 | C | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+1303C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664500 | |||||||
| chr2:210664514 | T | G | 2 | a0004c0004t0002g0013 a0004c0004t0002g0014 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.4002+1317T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664514 | |||||||
| chr2:210664558 | C | T | 1 | a0001c0001t0003g0227 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.4002+1361C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664558 | |||||||
| chr2:210664572 | C | T | 1 | a0001c0001t0002g0260 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.4002+1375C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664572 | |||||||
| chr2:210664598 | A | T | 5 | a0004c0007t0001g0161 a0005c0010t0008g0149 a0005c0010t0010g0284 others(2): Show |
5 | HG02280.hp2 HG02717.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4002+1401A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664598 | |||||||
| chr2:210664604 | C | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+1407C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664604 | |||||||
| chr2:210664605 | G | A | 2 | a0004c0004t0005g0198 a0004c0004t0005g0200 |
2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.4002+1408G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664605 | |||||||
| chr2:210664644 | G | A | 5 | a0004c0007t0001g0161 a0005c0010t0008g0149 a0005c0010t0010g0284 others(2): Show |
5 | HG02280.hp2 HG02717.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4002+1447G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664644 | |||||||
| chr2:210664654 | G | C | 214 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(211): Show |
222 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(219): Show |
intron_variant | MODIFIER | c.4002+1457G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664654 | |||||||
| chr2:210664791 | G | A | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4002+1594G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664791 | |||||||
| chr2:210664816 | A | G | 1 | a0001c0001t0003g0124 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.4002+1619A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664816 | |||||||
| chr2:210664831 | G | A | 1 | a0002c0009t0006g0078 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.4002+1634G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664831 | |||||||
| chr2:210664870 | A | G | 2 | a0001c0001t0017g0318 a0004c0007t0005g0206 |
2 | HG00733.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.4002+1673A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664870 | |||||||
| chr2:210664879 | T | A | 1 | a0005c0010t0014g0137 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.4002+1682T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210664879 | |||||||
| chr2:210665042 | T | C | 1 | a0002c0005t0008g0147 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.4002+1845T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665042 | |||||||
| chr2:210665086 | T | C | 2 | a0002c0009t0007g0073 a0002c0013t0007g0075 |
2 | HG02572.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.4002+1889T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665086 | |||||||
| chr2:210665126 | C | T | 51 | a0001c0001t0006g0280 a0001c0001t0007g0245 a0001c0001t0007g0281 others(48): Show |
57 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(54): Show |
intron_variant | MODIFIER | c.4002+1929C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665126 | |||||||
| chr2:210665219 | T | G | 1 | a0001c0001t0007g0301 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.4002+2022T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665219 | |||||||
| chr2:210665259 | G | A | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+2062G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665259 | |||||||
| chr2:210665377 | A | G | 1 | a0003c0003t0002g0064 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.4002+2180A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665377 | |||||||
| chr2:210665466 | C | T | 55 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0103 others(52): Show |
57 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(54): Show |
intron_variant | MODIFIER | c.4002+2269C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665466 | |||||||
| chr2:210665474 | C | A | 1 | a0001c0001t0007g0070 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.4002+2277C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665474 | |||||||
| chr2:210665474 | C | G | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4002+2277C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665474 | |||||||
| chr2:210665477 | C | A | 3 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0007g0070 |
3 | HG02630.hp1 HG02886.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4002+2280C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665477 | |||||||
| chr2:210665510 | A | G | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+2313A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665510 | |||||||
| chr2:210665549 | C | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+2352C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665549 | |||||||
| chr2:210665553 | C | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4002+2356C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665553 | |||||||
| chr2:210665572 | G | A | 1 | a0001c0001t0007g0281 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.4002+2375G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665572 | |||||||
| chr2:210665595 | A | G | 7 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(4): Show |
8 | HG01361.hp2 HG01496.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.4002+2398A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665595 | |||||||
| chr2:210665639 | T | C | 27 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(24): Show |
27 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(24): Show |
intron_variant | MODIFIER | c.4002+2442T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665639 | |||||||
| chr2:210665690 | A | G | 7 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0002c0009t0006g0076 others(4): Show |
7 | HG01081.hp2 HG01361.hp2 HG01496.hp2 others(4): Show |
intron_variant | MODIFIER | c.4002+2493A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665690 | |||||||
| chr2:210665735 | T | A | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4003-2451T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665735 | |||||||
| chr2:210665774 | C | T | 23 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(20): Show |
23 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.4003-2412C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665774 | |||||||
| chr2:210665775 | G | A | 7 | a0001c0001t0002g0072 a0003c0003t0001g0003 a0003c0003t0002g0283 others(4): Show |
10 | HG01891.hp2 HG02622.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.4003-2411G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665775 | |||||||
| chr2:210665776 | T | C | 10 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0001g0003 others(7): Show |
13 | HG01361.hp2 HG01496.hp2 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.4003-2410T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665776 | |||||||
| chr2:210665787 | C | T | 60 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0103 others(57): Show |
63 | HG00438.hp1 HG00558.hp2 HG00639.hp2 others(60): Show |
intron_variant | MODIFIER | c.4003-2399C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665787 | |||||||
| chr2:210665895 | G | C | 319 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(316): Show |
332 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(329): Show |
intron_variant | MODIFIER | c.4003-2291G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665895 | |||||||
| chr2:210665903 | T | C | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4003-2283T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665903 | |||||||
| chr2:210665947 | G | A | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4003-2239G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665947 | |||||||
| chr2:210665973 | C | T | 5 | a0004c0007t0001g0161 a0005c0010t0008g0149 a0005c0010t0010g0284 others(2): Show |
5 | HG02280.hp2 HG02717.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4003-2213C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210665973 | |||||||
| chr2:210666146 | A | G | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4003-2040A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666146 | |||||||
| chr2:210666190 | A | G | 1 | a0001c0006t0002g0292 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.4003-1996A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666190 | |||||||
| chr2:210666305 | T | C | 28 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(25): Show |
28 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(25): Show |
intron_variant | MODIFIER | c.4003-1881T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666305 | |||||||
| chr2:210666346 | C | G | 32 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0228 others(29): Show |
34 | HG00609.hp2 HG01516.hp2 HG02135.hp2 others(31): Show |
intron_variant | MODIFIER | c.4003-1840C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666346 | |||||||
| chr2:210666348 | A | G | 58 | a0001c0001t0006g0280 a0001c0001t0007g0245 a0001c0001t0007g0281 others(55): Show |
64 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(61): Show |
intron_variant | MODIFIER | c.4003-1838A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666348 | |||||||
| chr2:210666376 | G | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4003-1810G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666376 | |||||||
| chr2:210666466 | C | T | 4 | a0005c0010t0008g0149 a0005c0010t0010g0284 a0005c0010t0014g0137 others(1): Show |
4 | HG02280.hp2 HG02717.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.4003-1720C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666466 | |||||||
| chr2:210666490 | A | G | 1 | a0001c0001t0001g0104 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.4003-1696A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666490 | |||||||
| chr2:210666503 | A | G | 1 | a0003c0031t0002g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4003-1683A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666503 | |||||||
| chr2:210666537 | C | G | 1 | a0003c0031t0002g0018 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.4003-1649C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666537 | |||||||
| chr2:210666541 | G | A | 1 | a0003c0003t0004g0057 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.4003-1645G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666541 | |||||||
| chr2:210666565 | A | G | 1 | a0015c0022t0002g0022 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.4003-1621A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666565 | |||||||
| chr2:210666586 | C | G | 6 | a0003c0003t0001g0003 a0003c0003t0002g0283 a0004c0007t0005g0005 others(3): Show |
9 | HG01891.hp2 HG02622.hp2 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.4003-1600C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666586 | |||||||
| chr2:210666670 | C | T | 78 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(75): Show |
80 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(77): Show |
intron_variant | MODIFIER | c.4003-1516C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666670 | |||||||
| chr2:210666710 | C | T | 2 | a0001c0001t0003g0091 a0002c0002t0001g0146 |
2 | NA18963.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.4003-1476C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666710 | |||||||
| chr2:210666867 | A | G | 1 | a0001c0001t0010g0052 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.4003-1319A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666867 | |||||||
| chr2:210666871 | C | T | 1 | a0001c0001t0010g0052 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.4003-1315C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666871 | |||||||
| chr2:210666979 | T | C | 22 | a0001c0001t0006g0280 a0001c0001t0007g0281 a0001c0001t0008g0123 others(19): Show |
25 | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.4003-1207T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210666979 | |||||||
| chr2:210667058 | G | T | 2 | a0001c0001t0008g0129 a0001c0030t0007g0077 |
2 | HG03041.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.4003-1128G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667058 | |||||||
| chr2:210667066 | A | T | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4003-1120A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667066 | |||||||
| chr2:210667087 | C | T | 1 | a0001c0001t0002g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4003-1099C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667087 | |||||||
| chr2:210667123 | CTGTT | C | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4003-1059_4003-105 others(8): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | 210667123 | ||||||
| chr2:210667226 | G | A | 1 | a0001c0001t0007g0281 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.4003-960G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667226 | |||||||
| chr2:210667312 | T | C | 1 | a0001c0001t0003g0091 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.4003-874T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667312 | |||||||
| chr2:210667323 | T | G | 1 | a0002c0002t0021g0232 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4003-863T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667323 | |||||||
| chr2:210667417 | C | G | 1 | a0002c0002t0001g0217 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.4003-769C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667417 | |||||||
| chr2:210667675 | G | T | 1 | a0002c0002t0021g0232 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4003-511G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667675 | |||||||
| chr2:210667724 | C | T | 1 | a0003c0003t0005g0127 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.4003-462C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667724 | |||||||
| chr2:210667809 | A | T | 1 | a0002c0009t0003g0159 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.4003-377A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667809 | |||||||
| chr2:210667878 | C | A | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4003-308C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667878 | |||||||
| chr2:210667907 | G | C | 1 | a0004c0004t0005g0218 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.4003-279G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667907 | |||||||
| chr2:210667979 | C | T | 80 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(77): Show |
82 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(79): Show |
intron_variant | MODIFIER | c.4003-207C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210667979 | |||||||
| chr2:210668071 | C | T | 1 | a0004c0004t0005g0151 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.4003-115C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | chr2 | 210668071 | |||||||
| chr2:210668076 | A | ATG | 142 | a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0001g0102 others(139): Show |
149 | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(146): Show |
intron_variant | MODIFIER | c.4003-82_4003-81dup others(2): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | 210668076 | ||||||
| chr2:210668076 | A | ATGTG | 90 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(87): Show |
91 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.4003-84_4003-81dup others(4): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | 210668076 | ||||||
| chr2:210668076 | A | ATGTGTG | 10 | a0001c0001t0008g0098 a0001c0006t0001g0113 a0002c0002t0003g0222 others(7): Show |
12 | HG01361.hp2 HG01934.hp2 HG01943.hp2 others(9): Show |
intron_variant | MODIFIER | c.4003-86_4003-81dup others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | 210668076 | ||||||
| chr2:210668076 | A | ATGTGTGT others(1): Show |
11 | a0001c0001t0007g0245 a0002c0002t0001g0195 a0002c0002t0002g0240 others(8): Show |
12 | HG00639.hp1 HG01069.hp1 HG01192.hp1 others(9): Show |
intron_variant | MODIFIER | c.4003-88_4003-81dup others(8): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | 210668076 | ||||||
| chr2:210668076 | ATGTGTGT others(9): Show |
A | 1 | a0003c0003t0004g0255 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.4003-96_4003-81del others(16): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 33/37 | INFO_REALIGN_3_PRIME | chr2 | 210668076 | ||||||
| chr2:210668312 | C | G | 1 | a0001c0001t0001g0107 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.4101+28C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668312 | |||||||
| chr2:210668314 | A | G | 1 | a0002c0002t0001g0187 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.4101+30A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668314 | |||||||
| chr2:210668346 | A | G | 317 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(314): Show |
330 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(327): Show |
intron_variant | MODIFIER | c.4101+62A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668346 | |||||||
| chr2:210668472 | C | T | 1 | a0012c0017t0005g0189 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.4101+188C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668472 | |||||||
| chr2:210668473 | G | A | 1 | a0002c0002t0003g0142 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.4101+189G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668473 | |||||||
| chr2:210668540 | G | C | 1 | a0004c0004t0004g0063 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.4101+256G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668540 | |||||||
| chr2:210668541 | C | T | 1 | a0002c0005t0006g0079 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.4101+257C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668541 | |||||||
| chr2:210668723 | A | G | 1 | a0003c0003t0005g0166 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.4101+439A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668723 | |||||||
| chr2:210668917 | C | A | 1 | a0001c0029t0007g0246 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.4101+633C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668917 | |||||||
| chr2:210668995 | G | C | 1 | a0001c0001t0003g0231 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.4101+711G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210668995 | |||||||
| chr2:210669384 | G | T | 5 | a0004c0007t0001g0161 a0005c0010t0008g0149 a0005c0010t0010g0284 others(2): Show |
5 | HG02280.hp2 HG02717.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.4101+1100G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669384 | |||||||
| chr2:210669392 | A | G | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4101+1108A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669392 | |||||||
| chr2:210669430 | G | T | 3 | a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0324 |
3 | NA18966.hp2 NA19060.hp1 NA19068.hp2 |
intron_variant | MODIFIER | c.4101+1146G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669430 | |||||||
| chr2:210669584 | T | G | 4 | a0002c0002t0001g0207 a0004c0004t0005g0169 a0004c0004t0005g0198 others(1): Show |
4 | HG01257.hp2 HG01258.hp1 HG01993.hp1 others(1): Show |
intron_variant | MODIFIER | c.4101+1300T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669584 | |||||||
| chr2:210669611 | C | G | 93 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(90): Show |
95 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(92): Show |
intron_variant | MODIFIER | c.4101+1327C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669611 | |||||||
| chr2:210669679 | G | A | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4101+1395G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669679 | |||||||
| chr2:210669693 | C | A | 20 | a0001c0001t0006g0280 a0001c0001t0007g0281 a0001c0001t0008g0123 others(17): Show |
23 | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(20): Show |
intron_variant | MODIFIER | c.4101+1409C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669693 | |||||||
| chr2:210669733 | G | A | 23 | a0001c0001t0010g0299 a0001c0001t0017g0318 a0001c0006t0006g0020 others(20): Show |
23 | HG00733.hp2 HG01168.hp2 HG01169.hp1 others(20): Show |
intron_variant | MODIFIER | c.4101+1449G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210669733 | |||||||
| chr2:210670122 | T | C | 1 | a0001c0001t0002g0072 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.4101+1838T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670122 | |||||||
| chr2:210670234 | G | A | 55 | a0001c0001t0006g0280 a0001c0001t0007g0245 a0001c0001t0007g0281 others(52): Show |
61 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(58): Show |
intron_variant | MODIFIER | c.4101+1950G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670234 | |||||||
| chr2:210670492 | A | AT | 159 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(156): Show |
161 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(158): Show |
intron_variant | MODIFIER | c.4101+2209dupT | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr2 | 210670492 | ||||||
| chr2:210670554 | C | T | 50 | a0001c0001t0006g0280 a0001c0001t0007g0281 a0001c0001t0008g0123 others(47): Show |
56 | HG00733.hp2 HG00735.hp2 HG00741.hp2 others(53): Show |
intron_variant | MODIFIER | c.4101+2270C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670554 | |||||||
| chr2:210670830 | A | G | 5 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(2): Show |
5 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.4101+2546A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670830 | |||||||
| chr2:210670838 | G | A | 2 | a0003c0003t0001g0131 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.4101+2554G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670838 | |||||||
| chr2:210670958 | T | C | 59 | a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0228 others(56): Show |
61 | HG00609.hp2 HG00733.hp2 HG01168.hp2 others(58): Show |
intron_variant | MODIFIER | c.4101+2674T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670958 | |||||||
| chr2:210670959 | A | G | 2 | a0001c0001t0003g0128 a0001c0001t0003g0249 |
2 | HG02257.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.4101+2675A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670959 | |||||||
| chr2:210670987 | A | G | 1 | a0002c0002t0011g0178 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.4101+2703A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670987 | |||||||
| chr2:210670995 | G | A | 2 | a0003c0003t0004g0256 a0003c0003t0004g0282 |
2 | HG02145.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.4101+2711G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210670995 | |||||||
| chr2:210671057 | G | A | 2 | a0002c0002t0011g0138 a0004c0004t0005g0155 |
2 | HG02559.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.4101+2773G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671057 | |||||||
| chr2:210671133 | T | A | 5 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(2): Show |
5 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.4101+2849T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671133 | |||||||
| chr2:210671207 | T | C | 160 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(157): Show |
162 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(159): Show |
intron_variant | MODIFIER | c.4101+2923T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671207 | |||||||
| chr2:210671239 | C | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4101+2955C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671239 | |||||||
| chr2:210671332 | C | A | 7 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0009g0243 others(4): Show |
7 | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(4): Show |
intron_variant | MODIFIER | c.4101+3048C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671332 | |||||||
| chr2:210671540 | C | G | 19 | a0001c0001t0006g0280 a0001c0001t0007g0281 a0001c0001t0008g0123 others(16): Show |
22 | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(19): Show |
intron_variant | MODIFIER | c.4101+3256C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671540 | |||||||
| chr2:210671545 | G | A | 60 | a0001c0001t0001g0102 a0001c0001t0003g0133 a0001c0001t0006g0036 others(57): Show |
60 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(57): Show |
intron_variant | MODIFIER | c.4101+3261G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671545 | |||||||
| chr2:210671636 | A | G | 5 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(2): Show |
5 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.4102-3266A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671636 | |||||||
| chr2:210671668 | A | G | 24 | a0001c0001t0006g0280 a0001c0001t0007g0281 a0001c0001t0008g0123 others(21): Show |
27 | HG00735.hp2 HG00741.hp2 HG01069.hp2 others(24): Show |
intron_variant | MODIFIER | c.4102-3234A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671668 | |||||||
| chr2:210671799 | C | T | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4102-3103C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671799 | |||||||
| chr2:210671998 | C | A | 4 | a0001c0001t0008g0098 a0002c0002t0021g0232 a0003c0003t0005g0109 others(1): Show |
4 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.4102-2904C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210671998 | |||||||
| chr2:210672065 | A | G | 6 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(3): Show |
6 | HG01081.hp2 HG01361.hp2 HG01496.hp2 others(3): Show |
intron_variant | MODIFIER | c.4102-2837A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672065 | |||||||
| chr2:210672108 | G | C | 5 | a0001c0001t0007g0245 a0001c0001t0008g0098 a0002c0002t0021g0232 others(2): Show |
5 | HG01361.hp2 HG01496.hp2 HG01934.hp2 others(2): Show |
intron_variant | MODIFIER | c.4102-2794G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672108 | |||||||
| chr2:210672122 | A | G | 96 | a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 others(93): Show |
98 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(95): Show |
intron_variant | MODIFIER | c.4102-2780A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672122 | |||||||
| chr2:210672154 | G | A | 1 | a0002c0002t0021g0232 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4102-2748G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672154 | |||||||
| chr2:210672187 | G | A | 1 | a0001c0001t0006g0289 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.4102-2715G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672187 | |||||||
| chr2:210672226 | T | C | 1 | a0002c0013t0007g0075 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.4102-2676T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672226 | |||||||
| chr2:210672267 | C | T | 9 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0001c0001t0008g0129 others(6): Show |
9 | HG01243.hp2 HG02145.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.4102-2635C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672267 | |||||||
| chr2:210672341 | G | A | 1 | a0001c0001t0025g0049 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.4102-2561G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672341 | |||||||
| chr2:210672375 | G | A | 1 | a0002c0002t0001g0220 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.4102-2527G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672375 | |||||||
| chr2:210672380 | G | T | 5 | a0001c0001t0009g0012 a0001c0001t0009g0242 a0001c0001t0009g0279 others(2): Show |
6 | HG02723.hp2 HG02818.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.4102-2522G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672380 | |||||||
| chr2:210672541 | A | G | 1 | a0001c0001t0007g0281 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.4102-2361A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672541 | |||||||
| chr2:210672709 | G | A | 1 | a0002c0002t0001g0179 | 1 | NA19072.hp2 | intron_variant | MODIFIER | c.4102-2193G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672709 | |||||||
| chr2:210672738 | C | T | 1 | a0003c0003t0004g0255 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.4102-2164C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672738 | |||||||
| chr2:210672740 | T | C | 2 | a0003c0003t0001g0131 a0003c0018t0002g0235 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.4102-2162T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672740 | |||||||
| chr2:210672919 | C | T | 1 | a0001c0001t0007g0245 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.4102-1983C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210672919 | |||||||
| chr2:210673019 | G | T | 1 | a0001c0001t0013g0050 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.4102-1883G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673019 | |||||||
| chr2:210673079 | T | C | 2 | a0003c0003t0002g0064 a0003c0003t0004g0255 |
2 | HG03225.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.4102-1823T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673079 | |||||||
| chr2:210673245 | G | A | 1 | a0001c0006t0006g0272 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.4102-1657G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673245 | |||||||
| chr2:210673489 | A | G | 319 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(316): Show |
332 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(329): Show |
intron_variant | MODIFIER | c.4102-1413A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673489 | |||||||
| chr2:210673731 | A | G | 8 | a0001c0001t0006g0041 a0001c0001t0007g0034 a0001c0001t0007g0053 others(5): Show |
8 | HG00733.hp1 HG00735.hp1 HG01433.hp2 others(5): Show |
intron_variant | MODIFIER | c.4102-1171A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673731 | |||||||
| chr2:210673778 | ACTCATAC others(4): Show |
A | 1 | a0001c0001t0009g0279 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.4102-1123_4102-111 others(15): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673778 | |||||||
| chr2:210673834 | T | G | 3 | a0001c0001t0006g0325 a0001c0001t0006g0327 a0003c0003t0005g0166 |
3 | HG02451.hp2 HG02630.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.4102-1068T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673834 | |||||||
| chr2:210673856 | A | G | 1 | a0004c0007t0005g0206 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.4102-1046A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673856 | |||||||
| chr2:210673867 | C | T | 1 | a0002c0002t0003g0142 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.4102-1035C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210673867 | |||||||
| chr2:210674011 | A | G | 1 | a0001c0001t0006g0045 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4102-891A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674011 | |||||||
| chr2:210674077 | A | G | 9 | a0001c0001t0009g0012 a0001c0001t0009g0242 a0001c0001t0009g0243 others(6): Show |
10 | HG01243.hp2 HG02145.hp1 HG02723.hp2 others(7): Show |
intron_variant | MODIFIER | c.4102-825A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674077 | |||||||
| chr2:210674141 | A | G | 1 | a0002c0002t0021g0232 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.4102-761A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674141 | |||||||
| chr2:210674329 | T | C | 1 | a0001c0001t0006g0045 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4102-573T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674329 | |||||||
| chr2:210674339 | G | A | 1 | a0001c0001t0006g0045 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4102-563G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674339 | |||||||
| chr2:210674341 | T | C | 1 | a0001c0001t0006g0045 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4102-561T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674341 | |||||||
| chr2:210674343 | G | C | 1 | a0001c0001t0006g0045 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4102-559G>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674343 | |||||||
| chr2:210674357 | C | T | 1 | a0001c0001t0006g0045 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.4102-545C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674357 | |||||||
| chr2:210674368 | G | A | 1 | a0001c0001t0003g0227 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.4102-534G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674368 | |||||||
| chr2:210674426 | G | A | 62 | a0001c0001t0003g0125 a0001c0001t0003g0135 a0001c0001t0006g0041 others(59): Show |
66 | HG00140.hp2 HG00639.hp2 HG00733.hp1 others(63): Show |
intron_variant | MODIFIER | c.4102-476G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674426 | |||||||
| chr2:210674449 | A | G | 2 | a0001c0001t0007g0254 a0008c0014t0007g0066 |
2 | HG02280.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.4102-453A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674449 | |||||||
| chr2:210674471 | CA | C | 11 | a0001c0001t0007g0245 a0001c0001t0008g0123 a0001c0001t0009g0012 others(8): Show |
12 | HG01243.hp2 HG02145.hp1 HG02723.hp2 others(9): Show |
intron_variant | MODIFIER | c.4102-420delA | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr2 | 210674471 | ||||||
| chr2:210674479 | AAAACC | A | 56 | a0001c0001t0003g0085 a0001c0001t0003g0093 a0001c0001t0003g0094 others(53): Show |
56 | HG00140.hp2 HG00408.hp1 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.4102-419_4102-415d others(7): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr2 | 210674479 | ||||||
| chr2:210674480 | AAACC | A | 16 | a0001c0001t0002g0322 a0001c0001t0003g0110 a0001c0001t0007g0016 others(13): Show |
16 | HG00597.hp2 HG01167.hp1 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.4102-419_4102-416d others(6): Show |
CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | INFO_REALIGN_3_PRIME | chr2 | 210674480 | ||||||
| chr2:210674547 | T | C | 14 | a0001c0001t0002g0072 a0001c0001t0007g0016 a0001c0001t0007g0070 others(11): Show |
15 | HG01884.hp2 HG01891.hp2 HG02572.hp2 others(12): Show |
intron_variant | MODIFIER | c.4102-355T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674547 | |||||||
| chr2:210674560 | G | A | 21 | a0001c0001t0003g0133 a0001c0001t0006g0045 a0001c0001t0008g0129 others(18): Show |
22 | HG00408.hp1 HG00609.hp1 HG00639.hp2 others(19): Show |
intron_variant | MODIFIER | c.4102-342G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674560 | |||||||
| chr2:210674560 | G | T | 1 | a0001c0001t0006g0280 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.4102-342G>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674560 | |||||||
| chr2:210674578 | C | T | 147 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(144): Show |
154 | HG00323.hp2 HG00408.hp2 HG00438.hp1 others(151): Show |
intron_variant | MODIFIER | c.4102-324C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674578 | |||||||
| chr2:210674639 | A | G | 310 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(307): Show |
320 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(317): Show |
intron_variant | MODIFIER | c.4102-263A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674639 | |||||||
| chr2:210674804 | T | C | 1 | a0002c0002t0001g0234 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.4102-98T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 34/37 | chr2 | 210674804 | |||||||
| chr2:210675259 | A | T | 1 | a0004c0004t0004g0031 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4161+298A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 35/37 | chr2 | 210675259 | |||||||
| chr2:210675540 | T | A | 3 | a0004c0004t0002g0013 a0004c0004t0002g0014 a0004c0007t0001g0161 |
3 | HG02723.hp1 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.4162-188T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 35/37 | chr2 | 210675540 | |||||||
| chr2:210675880 | G | A | 1 | a0002c0002t0001g0203 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.4274+40G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210675880 | |||||||
| chr2:210676029 | T | A | 1 | a0003c0003t0005g0122 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.4274+189T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676029 | |||||||
| chr2:210676139 | T | G | 92 | a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0096 others(89): Show |
95 | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(92): Show |
intron_variant | MODIFIER | c.4274+299T>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676139 | |||||||
| chr2:210676202 | T | C | 4 | a0001c0001t0017g0318 a0001c0024t0017g0285 a0002c0002t0012g0007 others(1): Show |
5 | HG00733.hp2 HG00735.hp2 HG01106.hp1 others(2): Show |
intron_variant | MODIFIER | c.4274+362T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676202 | |||||||
| chr2:210676250 | A | G | 15 | a0001c0001t0010g0051 a0001c0001t0010g0052 a0001c0001t0010g0054 others(12): Show |
15 | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(12): Show |
intron_variant | MODIFIER | c.4274+410A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676250 | |||||||
| chr2:210676340 | C | A | 15 | a0001c0001t0010g0051 a0001c0001t0010g0052 a0001c0001t0010g0054 others(12): Show |
15 | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(12): Show |
intron_variant | MODIFIER | c.4274+500C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676340 | |||||||
| chr2:210676441 | G | A | 14 | a0001c0001t0010g0051 a0001c0001t0010g0052 a0001c0001t0010g0054 others(11): Show |
14 | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(11): Show |
intron_variant | MODIFIER | c.4275-566G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676441 | |||||||
| chr2:210676744 | T | C | 1 | a0003c0003t0027g0238 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.4275-263T>C | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676744 | |||||||
| chr2:210676788 | C | T | 1 | a0001c0028t0024g0071 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.4275-219C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676788 | |||||||
| chr2:210676898 | C | T | 2 | a0003c0003t0004g0259 a0004c0004t0002g0310 |
2 | HG01346.hp2 HG01943.hp1 |
intron_variant | MODIFIER | c.4275-109C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676898 | |||||||
| chr2:210676997 | A | G | 1 | a0001c0001t0013g0032 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.4275-10A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 36/37 | chr2 | 210676997 | |||||||
| chr2:210677140 | T | A | 3 | a0001c0001t0029g0274 a0002c0002t0015g0088 a0002c0002t0015g0183 |
3 | HG03831.hp1 HG03834.hp2 NA20905.hp1 |
splice_region_variant&intron_variant | LOW | c.4404+4T>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 37/37 | chr2 | 210677140 | |||||||
| chr2:210677367 | C | G | 3 | a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0009g0276 |
3 | HG01243.hp2 HG02145.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.4404+231C>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 37/37 | chr2 | 210677367 | |||||||
| chr2:210677497 | G | A | 4 | a0001c0001t0017g0318 a0001c0024t0017g0285 a0002c0002t0012g0007 others(1): Show |
5 | HG00733.hp2 HG00735.hp2 HG01106.hp1 others(2): Show |
intron_variant | MODIFIER | c.4404+361G>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 37/37 | chr2 | 210677497 | |||||||
| chr2:210677675 | C | T | 3 | a0001c0001t0029g0274 a0002c0002t0015g0088 a0002c0002t0015g0183 |
3 | HG03831.hp1 HG03834.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.4405-212C>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 37/37 | chr2 | 210677675 | |||||||
| chr2:210677689 | C | A | 3 | a0001c0001t0029g0274 a0002c0002t0015g0088 a0002c0002t0015g0183 |
3 | HG03831.hp1 HG03834.hp2 NA20905.hp1 |
intron_variant | MODIFIER | c.4405-198C>A | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 37/37 | chr2 | 210677689 | |||||||
| chr2:210677755 | A | T | 4 | a0003c0003t0004g0256 a0003c0003t0004g0282 a0003c0003t0004g0326 others(1): Show |
4 | HG02145.hp2 HG02258.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.4405-132A>T | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 37/37 | chr2 | 210677755 | |||||||
| chr2:210677801 | A | G | 14 | a0001c0001t0010g0051 a0001c0001t0010g0052 a0001c0001t0010g0054 others(11): Show |
14 | HG00733.hp1 HG00735.hp1 HG00741.hp2 others(11): Show |
intron_variant | MODIFIER | c.4405-86A>G | CPS1 | ENSG00000021826.18 | transcript | ENST00000233072.10 | protein_coding | 37/37 | chr2 | 210677801 |