Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5378 |
| ensemblid | ENSG00000064933.19 |
| hgncid | 9121 |
| symbol | PMS1 |
| name | PMS1 homolog 1, mismatch repair system component |
| refseq_nuc | NM_000534.5 |
| refseq_prot | NP_000525.1 |
| ensembl_nuc | ENST00000441310.7 |
| ensembl_prot | ENSP00000406490.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 189784450 |
| end | 189877629 |
| strand | + |
| ver | v1.2 |
| region | chr2:189784450-189877629 |
| region5000 | chr2:189779450-189882629 |
| regionname0 | PMS1_chr2_189784450_189877629 |
| regionname5000 | PMS1_chr2_189779450_189882629 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 932 | 224 | 85 | 35 | 72 | 8 | 22 | 52 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0002 | 0/0 | 932 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0003 | 0/0 | 932 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0004 | 0/0 | 932 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0005 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0006 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0007 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0008 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| a0009 | 0/0 | 932 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | MKQLP others(927): Show |
chr2 | 189779450 | 189882629 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 2796 | 214 | 77 | 33 | 72 | 8 | 22 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0001c0002 | 0/0 | 2796 | 6 | 5 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0001c0003 | 0/0 | 2796 | 4 | 3 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0002c0004 | 0/0 | 2796 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0003c0005 | 0/0 | 2796 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0004c0009 | 0/0 | 2796 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0005c0008 | 0/0 | 2796 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0006c0007 | 0/0 | 2796 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0007c0011 | 0/0 | 2796 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0008c0006 | 0/0 | 2796 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 | ||
| a0009c0010 | 0/0 | 2796 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | ATGAA others(2791): Show |
chr2 | 189779450 | 189882629 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 3156 | 106 | 25 | 17 | 40 | 4 | 18 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0001t0002 | 0/0 | 3156 | 73 | 20 | 16 | 30 | 4 | 3 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0001t0003 | 0/0 | 3156 | 16 | 16 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0001t0004 | 0/0 | 3156 | 13 | 13 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0001t0005 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0001t0006 | 0/0 | 3156 | 2 | 0 | 0 | 2 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0001t0007 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0001t0008 | 0/0 | 3156 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0002t0001 | 0/0 | 3156 | 4 | 3 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0002t0005 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0001c0003t0001 | 0/0 | 3156 | 4 | 3 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0002c0004t0001 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0003c0005t0001 | 0/0 | 3156 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0004c0009t0002 | 0/0 | 3156 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0005c0008t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0006c0007t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0007c0011t0004 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0008c0006t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| a0009c0010t0001 | 0/0 | 3156 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | AGTGC others(3151): Show |
chr2 | 189779450 | 189882629 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0005 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0188 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0001g0227 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0049 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0050 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0061 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0002g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0006 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0003g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0004g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0005g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0006g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0006g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0007g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0007g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0001t0008g0042 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0002t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0002t0001g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0002t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0002t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0002t0005g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0002t0005g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0003t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0003t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0003t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0001c0003t0001g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0002c0004t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0002c0004t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0003c0005t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0003c0005t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0004c0009t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0005c0008t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0006c0007t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0007c0011t0004g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0008c0006t0001g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| a0009c0010t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0148 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0049 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0050 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0179 | EUR | GBR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0059 | EUR | FIN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0005 | EUR | FIN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00423 | hp2 | a0001 | c0001 | t0002 | g0091 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00544 | hp1 | a0001 | c0001 | t0002 | g0103 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0184 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00558 | hp2 | a0001 | c0001 | t0002 | g0034 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00597 | hp2 | a0001 | c0001 | t0002 | g0087 | EAS | CHS | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0187 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0060 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG00733 | hp2 | a0004 | c0009 | t0002 | g0075 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01069 | hp1 | a0001 | c0002 | t0001 | g0014 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0186 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01081 | hp1 | a0001 | c0001 | t0001 | g0141 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01081 | hp2 | a0001 | c0003 | t0001 | g0045 | AMR | PUR | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0203 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01255 | hp2 | a0001 | c0001 | t0002 | g0031 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01257 | hp2 | a0001 | c0001 | t0002 | g0095 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0051 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0096 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0119 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01261 | hp2 | a0001 | c0001 | t0002 | g0093 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0003 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0198 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0167 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01496 | hp2 | a0001 | c0001 | t0002 | g0107 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01884 | hp1 | a0005 | c0008 | t0001 | g0009 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01884 | hp2 | a0001 | c0001 | t0003 | g0006 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0036 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01891 | hp2 | a0001 | c0001 | t0003 | g0215 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0170 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01928 | hp2 | a0001 | c0001 | t0002 | g0077 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01943 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01943 | hp2 | a0001 | c0001 | t0002 | g0100 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01978 | hp1 | a0001 | c0001 | t0002 | g0101 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0175 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0076 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0183 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02004 | hp1 | a0001 | c0001 | t0002 | g0078 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02004 | hp2 | a0001 | c0001 | t0001 | g0173 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02055 | hp1 | a0001 | c0002 | t0001 | g0017 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0191 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02074 | hp2 | a0001 | c0001 | t0002 | g0058 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0182 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02145 | hp1 | a0001 | c0001 | t0003 | g0219 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0185 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0162 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0083 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02155 | hp1 | a0001 | c0001 | t0002 | g0057 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0189 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02165 | hp1 | a0001 | c0001 | t0001 | g0168 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0032 | EAS | CDX | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02257 | hp1 | a0001 | c0001 | t0002 | g0052 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0122 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02273 | hp1 | a0001 | c0001 | t0002 | g0003 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0180 | AMR | PEL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02280 | hp1 | a0001 | c0003 | t0001 | g0018 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02280 | hp2 | a0001 | c0001 | t0002 | g0038 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02451 | hp1 | a0001 | c0001 | t0002 | g0089 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0128 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02523 | hp1 | a0001 | c0001 | t0002 | g0106 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0086 | EAS | KHV | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0211 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02572 | hp2 | a0001 | c0001 | t0004 | g0069 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0176 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02602 | hp2 | a0001 | c0001 | t0002 | g0054 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0133 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0043 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02622 | hp1 | a0001 | c0001 | t0002 | g0109 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02622 | hp2 | a0001 | c0001 | t0004 | g0068 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0040 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02647 | hp1 | a0001 | c0001 | t0004 | g0074 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02647 | hp2 | a0001 | c0001 | t0007 | g0213 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02717 | hp1 | a0001 | c0001 | t0007 | g0212 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02717 | hp2 | a0001 | c0001 | t0002 | g0041 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02723 | hp1 | a0001 | c0001 | t0002 | g0092 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0134 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0019 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02735 | hp2 | a0001 | c0001 | t0008 | g0042 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02818 | hp1 | a0007 | c0011 | t0004 | g0072 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0165 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0037 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0123 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02895 | hp1 | a0001 | c0001 | t0003 | g0214 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02895 | hp2 | a0002 | c0004 | t0001 | g0225 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02896 | hp1 | a0001 | c0001 | t0001 | g0164 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0064 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02897 | hp1 | a0002 | c0004 | t0001 | g0224 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0163 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0216 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02922 | hp2 | a0001 | c0001 | t0004 | g0002 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02965 | hp1 | a0001 | c0001 | t0004 | g0129 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0202 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0121 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02970 | hp2 | a0001 | c0001 | t0002 | g0047 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02976 | hp2 | a0001 | c0001 | t0004 | g0071 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03041 | hp1 | a0001 | c0001 | t0004 | g0073 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03041 | hp2 | a0001 | c0001 | t0003 | g0222 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03098 | hp1 | a0001 | c0001 | t0003 | g0209 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0160 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03130 | hp1 | a0001 | c0001 | t0003 | g0006 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0201 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03139 | hp1 | a0008 | c0006 | t0001 | g0228 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03139 | hp2 | a0001 | c0001 | t0004 | g0002 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0035 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03209 | hp2 | a0003 | c0005 | t0001 | g0223 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0026 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03225 | hp2 | a0001 | c0002 | t0001 | g0016 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0139 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0181 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03453 | hp1 | a0001 | c0003 | t0001 | g0046 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0115 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03486 | hp1 | a0009 | c0010 | t0001 | g0007 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03486 | hp2 | a0001 | c0001 | t0003 | g0217 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0171 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0125 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0024 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0136 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03516 | hp1 | a0001 | c0001 | t0004 | g0066 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0039 | AFR | ESN | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03540 | hp1 | a0001 | c0001 | t0002 | g0044 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03540 | hp2 | a0001 | c0001 | t0003 | g0218 | AFR | GWD | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03579 | hp1 | a0001 | c0001 | t0002 | g0110 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03579 | hp2 | a0001 | c0001 | t0003 | g0208 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0022 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03710 | hp2 | a0001 | c0001 | t0002 | g0056 | SAS | PJL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0126 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0147 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0112 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0204 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0196 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0020 | SAS | BEB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0023 | SAS | STU | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0195 | SAS | STU | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18522 | hp1 | a0003 | c0005 | t0001 | g0226 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18906 | hp1 | a0001 | c0001 | t0003 | g0207 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18906 | hp2 | a0001 | c0001 | t0003 | g0221 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0021 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18941 | hp1 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18941 | hp2 | a0001 | c0001 | t0006 | g0169 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18948 | hp2 | a0001 | c0001 | t0002 | g0104 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18953 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18956 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18956 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0098 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18962 | hp1 | a0001 | c0001 | t0002 | g0033 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18964 | hp2 | a0001 | c0001 | t0002 | g0088 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18967 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18967 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18969 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18969 | hp2 | a0001 | c0001 | t0006 | g0178 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18970 | hp2 | a0001 | c0001 | t0002 | g0099 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18982 | hp1 | a0001 | c0001 | t0002 | g0082 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18988 | hp1 | a0001 | c0001 | t0002 | g0084 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA18988 | hp2 | a0001 | c0001 | t0002 | g0062 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19000 | hp2 | a0001 | c0001 | t0002 | g0053 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19005 | hp2 | a0001 | c0001 | t0002 | g0085 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19011 | hp1 | a0001 | c0001 | t0002 | g0130 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19011 | hp2 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19030 | hp2 | a0001 | c0002 | t0005 | g0015 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19043 | hp1 | a0001 | c0001 | t0004 | g0131 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0008 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19057 | hp2 | a0001 | c0001 | t0002 | g0090 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19068 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19068 | hp2 | a0001 | c0001 | t0002 | g0081 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19075 | hp1 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19075 | hp2 | a0001 | c0001 | t0002 | g0108 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19077 | hp2 | a0001 | c0001 | t0002 | g0063 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19086 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0143 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA19240 | hp2 | a0001 | c0001 | t0003 | g0220 | AFR | YRI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20129 | hp1 | a0001 | c0001 | t0004 | g0067 | AFR | ASW | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20129 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | ASW | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0061 | EUR | TSI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0005 | EUR | TSI | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0080 | SAS | GIH | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0174 | SAS | GIH | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0132 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG01123 | hp2 | a0001 | c0001 | t0002 | g0055 | AMR | CLM | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0118 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02109 | hp2 | a0006 | c0007 | t0001 | g0010 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02486 | hp1 | a0001 | c0001 | t0002 | g0079 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02486 | hp2 | a0001 | c0001 | t0005 | g0117 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02559 | hp1 | a0001 | c0003 | t0001 | g0048 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG02559 | hp2 | a0001 | c0001 | t0004 | g0070 | AFR | ACB | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03471 | hp1 | a0001 | c0002 | t0005 | g0012 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG03471 | hp2 | a0001 | c0001 | t0003 | g0210 | AFR | MSL | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| HG06807 | hp2 | a0001 | c0001 | t0004 | g0065 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA20300 | hp2 | a0001 | c0002 | t0001 | g0013 | AFR | USA | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0027 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0205 | AFR | LWK | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0188 | REF | REF | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0227 | REF | REF | PMS1_chr2_189779450_189882629 | PMS1 | chr2 | 189779450 | 189882629 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189854453 | T | C | 3 | a0002 a0003 a0008 |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
missense_variant | MODERATE | c.1181T>C | p.Met394Thr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/13 | 1345/3156 | 1181/2799 | 394/932 | chr2 | 189854453 | |||
| chr2:189854773 | G | A | 3 | a0002 a0003 a0008 |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
missense_variant | MODERATE | c.1501G>A | p.Gly501Arg | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/13 | 1665/3156 | 1501/2799 | 501/932 | chr2 | 189854773 | |||
| chr2:189854915 | A | G | 1 | a0008 | 1 | HG03139.hp1 | missense_variant | MODERATE | c.1643A>G | p.Lys548Arg | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/13 | 1807/3156 | 1643/2799 | 548/932 | chr2 | 189854915 | |||
| chr2:189864053 | G | A | 1 | a0006 | 1 | HG02109.hp2 | missense_variant | MODERATE | c.2167G>A | p.Glu723Lys | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/13 | 2331/3156 | 2167/2799 | 723/932 | chr2 | 189864053 | |||
| chr2:189864197 | C | A | 1 | a0002 | 2 | HG02895.hp2 HG02897.hp1 |
missense_variant | MODERATE | c.2311C>A | p.Pro771Thr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/13 | 2475/3156 | 2311/2799 | 771/932 | chr2 | 189864197 | |||
| chr2:189864227 | A | G | 1 | a0007 | 1 | HG02818.hp1 | missense_variant&splice_region_variant | MODERATE | c.2341A>G | p.Ser781Gly | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/13 | 2505/3156 | 2341/2799 | 781/932 | chr2 | 189864227 | |||
| chr2:189867833 | T | C | 3 | a0002 a0003 a0008 |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
missense_variant | MODERATE | c.2377T>C | p.Tyr793His | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/13 | 2541/3156 | 2377/2799 | 793/932 | chr2 | 189867833 | |||
| chr2:189867873 | C | G | 1 | a0009 | 1 | HG03486.hp1 | missense_variant | MODERATE | c.2417C>G | p.Thr806Ser | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/13 | 2581/3156 | 2417/2799 | 806/932 | chr2 | 189867873 | |||
| chr2:189867876 | A | T | 1 | a0004 | 1 | HG00733.hp2 | missense_variant | MODERATE | c.2420A>T | p.Tyr807Phe | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/13 | 2584/3156 | 2420/2799 | 807/932 | chr2 | 189867876 | |||
| chr2:189873625 | G | A | 1 | a0005 | 1 | HG01884.hp1 | missense_variant | MODERATE | c.2603G>A | p.Cys868Tyr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/13 | 2767/3156 | 2603/2799 | 868/932 | chr2 | 189873625 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189795777 | T | C | 1 | a0001c0003 | 4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
synonymous_variant | LOW | c.141T>C | p.Tyr47Tyr | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/13 | 305/3156 | 141/2799 | 47/932 | chr2 | 189795777 | |||
| chr2:189805681 | T | C | 1 | a0001c0002 | 6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
synonymous_variant | LOW | c.345T>C | p.Asp115Asp | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/13 | 509/3156 | 345/2799 | 115/932 | chr2 | 189805681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189784514 | G | T | 2 | a0001c0001t0003 a0001c0001t0007 |
18 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
5_prime_UTR_variant | MODIFIER | c.-100G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7296 | chr2 | 189784514 | ||||||
| chr2:189784515 | G | T | 1 | a0001c0001t0008 | 1 | HG02735.hp2 | 5_prime_UTR_variant | MODIFIER | c.-99G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7295 | chr2 | 189784515 | ||||||
| chr2:189784567 | A | G | 1 | a0001c0001t0006 | 2 | NA18941.hp2 NA18969.hp2 |
5_prime_UTR_variant | MODIFIER | c.-47A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7243 | chr2 | 189784567 | ||||||
| chr2:189784590 | G | C | 5 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(2): Show |
89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
5_prime_UTR_variant | MODIFIER | c.-24G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/13 | 7220 | chr2 | 189784590 | ||||||
| chr2:189877446 | T | A | 5 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 others(2): Show |
19 | HG02486.hp2 HG02559.hp2 HG02572.hp2 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*10T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 13/13 | 10 | chr2 | 189877446 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:189784667 | G | A | 5 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0005c0008t0001g0009 others(2): Show |
5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21+74G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784667 | |||||||
| chr2:189784669 | T | C | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21+76T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784669 | |||||||
| chr2:189784761 | T | C | 221 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(218): Show |
227 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
intron_variant | MODIFIER | c.-21+168T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784761 | |||||||
| chr2:189784773 | C | T | 17 | a0001c0001t0003g0006 a0001c0001t0003g0207 a0001c0001t0003g0208 others(14): Show |
18 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.-21+180C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784773 | |||||||
| chr2:189784856 | C | T | 75 | a0001c0001t0001g0005 a0001c0001t0001g0132 a0001c0001t0001g0133 others(72): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(73): Show |
intron_variant | MODIFIER | c.-21+263C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784856 | |||||||
| chr2:189784986 | T | G | 221 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(218): Show |
227 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
intron_variant | MODIFIER | c.-21+393T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189784986 | |||||||
| chr2:189785163 | A | G | 1 | a0001c0001t0004g0131 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-21+570A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785163 | |||||||
| chr2:189785232 | G | A | 75 | a0001c0001t0001g0005 a0001c0001t0001g0132 a0001c0001t0001g0133 others(72): Show |
76 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(73): Show |
intron_variant | MODIFIER | c.-21+639G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785232 | |||||||
| chr2:189785285 | A | T | 1 | a0001c0001t0001g0206 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-21+692A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785285 | |||||||
| chr2:189785390 | C | A | 1 | a0001c0001t0001g0132 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.-21+797C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785390 | |||||||
| chr2:189785414 | C | T | 1 | a0001c0001t0002g0130 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.-21+821C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785414 | |||||||
| chr2:189785566 | C | G | 1 | a0001c0001t0001g0205 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-21+973C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785566 | |||||||
| chr2:189785731 | G | GCTTT | 221 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(218): Show |
227 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
intron_variant | MODIFIER | c.-21+1141_-21+1142i others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | 189785731 | ||||||
| chr2:189785831 | G | A | 1 | a0001c0003t0001g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-21+1238G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785831 | |||||||
| chr2:189785956 | C | G | 16 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0209 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.-21+1363C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189785956 | |||||||
| chr2:189786204 | G | T | 222 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(219): Show |
228 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
intron_variant | MODIFIER | c.-21+1611G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786204 | |||||||
| chr2:189786325 | G | A | 1 | a0001c0001t0001g0019 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-21+1732G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786325 | |||||||
| chr2:189786339 | A | C | 1 | a0001c0001t0001g0204 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.-21+1746A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786339 | |||||||
| chr2:189786441 | G | T | 1 | a0001c0001t0004g0129 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-21+1848G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786441 | |||||||
| chr2:189786557 | C | T | 1 | a0001c0001t0002g0128 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.-21+1964C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786557 | |||||||
| chr2:189786714 | A | G | 210 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(207): Show |
216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.-21+2121A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786714 | |||||||
| chr2:189786773 | C | T | 22 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0111 others(19): Show |
22 | HG01261.hp1 HG01884.hp1 HG02109.hp1 others(19): Show |
intron_variant | MODIFIER | c.-21+2180C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786773 | |||||||
| chr2:189786778 | G | A | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.-21+2185G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786778 | |||||||
| chr2:189786848 | T | C | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.-21+2255T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786848 | |||||||
| chr2:189786977 | C | T | 1 | a0001c0001t0001g0203 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-21+2384C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189786977 | |||||||
| chr2:189787041 | G | A | 1 | a0001c0001t0004g0131 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-21+2448G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787041 | |||||||
| chr2:189787283 | A | G | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+2690A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787283 | |||||||
| chr2:189787368 | T | C | 210 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(207): Show |
216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.-21+2775T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787368 | |||||||
| chr2:189787537 | T | C | 221 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(218): Show |
227 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(224): Show |
intron_variant | MODIFIER | c.-21+2944T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787537 | |||||||
| chr2:189787593 | TCAC | T | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+3001_-21+3003d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787593 | |||||||
| chr2:189787596 | C | T | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-21+3003C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787596 | |||||||
| chr2:189787601 | T | A | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+3008T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787601 | |||||||
| chr2:189787603 | A | AT | 187 | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0132 others(184): Show |
193 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
intron_variant | MODIFIER | c.-21+3020dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | 189787603 | ||||||
| chr2:189787603 | A | T | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-21+3010A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787603 | |||||||
| chr2:189787608 | T | TA | 5 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0005c0008t0001g0009 others(2): Show |
5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.-21+3015_-21+3016i others(3): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787608 | |||||||
| chr2:189787706 | G | T | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-21+3113G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787706 | |||||||
| chr2:189787723 | G | A | 3 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 |
3 | HG00558.hp2 HG02165.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.-21+3130G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787723 | |||||||
| chr2:189787931 | C | T | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.-21+3338C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787931 | |||||||
| chr2:189787953 | T | C | 210 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(207): Show |
216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.-21+3360T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189787953 | |||||||
| chr2:189788105 | A | G | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-21+3512A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788105 | |||||||
| chr2:189788106 | T | C | 1 | a0001c0001t0001g0134 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-21+3513T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788106 | |||||||
| chr2:189788269 | G | A | 1 | a0001c0001t0001g0135 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.-20-3521G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788269 | |||||||
| chr2:189788335 | T | C | 210 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(207): Show |
216 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(213): Show |
intron_variant | MODIFIER | c.-20-3455T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788335 | |||||||
| chr2:189788455 | G | A | 11 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(8): Show |
12 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(9): Show |
intron_variant | MODIFIER | c.-20-3335G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788455 | |||||||
| chr2:189788532 | G | A | 16 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(13): Show |
16 | HG01261.hp1 HG02109.hp1 HG02257.hp2 others(13): Show |
intron_variant | MODIFIER | c.-20-3258G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788532 | |||||||
| chr2:189788631 | A | G | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.-20-3159A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788631 | |||||||
| chr2:189788698 | G | A | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.-20-3092G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788698 | |||||||
| chr2:189788724 | A | G | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-20-3066A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788724 | |||||||
| chr2:189788818 | C | G | 2 | a0001c0001t0001g0029 a0001c0001t0001g0030 |
2 | NA18951.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.-20-2972C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788818 | |||||||
| chr2:189788961 | T | G | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.-20-2829T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189788961 | |||||||
| chr2:189789023 | G | T | 50 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0031 others(47): Show |
53 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.-20-2767G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789023 | |||||||
| chr2:189789024 | C | T | 50 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0031 others(47): Show |
53 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.-20-2766C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789024 | |||||||
| chr2:189789216 | T | C | 1 | a0001c0001t0002g0064 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-20-2574T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789216 | |||||||
| chr2:189789578 | G | T | 1 | a0001c0001t0001g0127 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-20-2212G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789578 | |||||||
| chr2:189789840 | C | T | 2 | a0001c0001t0004g0131 a0001c0001t0008g0042 |
2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-20-1950C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189789840 | |||||||
| chr2:189790173 | C | G | 1 | a0001c0001t0001g0028 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-20-1617C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790173 | |||||||
| chr2:189790215 | A | G | 8 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(5): Show |
9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-20-1575A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790215 | |||||||
| chr2:189790496 | G | T | 1 | a0001c0001t0004g0131 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-20-1294G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790496 | |||||||
| chr2:189790610 | T | G | 1 | a0001c0001t0001g0136 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-20-1180T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790610 | |||||||
| chr2:189790835 | G | C | 89 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(86): Show |
93 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.-20-955G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790835 | |||||||
| chr2:189790937 | T | G | 8 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show |
8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.-20-853T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189790937 | |||||||
| chr2:189791004 | A | G | 1 | a0001c0001t0001g0127 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.-20-786A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791004 | |||||||
| chr2:189791032 | A | C | 5 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0005c0008t0001g0009 others(2): Show |
5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.-20-758A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791032 | |||||||
| chr2:189791074 | CT | C | 10 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(7): Show |
10 | HG02735.hp2 HG03491.hp1 HG03710.hp1 others(7): Show |
intron_variant | MODIFIER | c.-20-705delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | 189791074 | ||||||
| chr2:189791213 | G | C | 2 | a0001c0001t0004g0131 a0001c0001t0008g0042 |
2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.-20-577G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791213 | |||||||
| chr2:189791289 | A | G | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.-20-501A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791289 | |||||||
| chr2:189791377 | T | C | 2 | a0003c0005t0001g0223 a0008c0006t0001g0228 |
2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-20-413T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791377 | |||||||
| chr2:189791636 | T | G | 8 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(5): Show |
9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.-20-154T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 1/12 | chr2 | 189791636 | |||||||
| chr2:189792152 | C | T | 1 | a0001c0001t0001g0201 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.132+211C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792152 | |||||||
| chr2:189792471 | G | A | 4 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show |
4 | HG03834.hp1 NA18939.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.132+530G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792471 | |||||||
| chr2:189792480 | T | C | 1 | a0001c0001t0001g0137 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.132+539T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792480 | |||||||
| chr2:189792511 | T | C | 5 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0223 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+570T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792511 | |||||||
| chr2:189792669 | G | A | 3 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0128 |
3 | HG02451.hp2 HG02615.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.132+728G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792669 | |||||||
| chr2:189792688 | A | AAT | 21 | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0144 others(18): Show |
22 | HG00099.hp1 HG00280.hp2 HG00423.hp1 others(19): Show |
intron_variant | MODIFIER | c.132+778_132+779dup others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATAT | 9 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(6): Show |
9 | HG01081.hp1 HG02135.hp1 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.132+776_132+779dup others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATATAT | 22 | a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0002g0033 others(19): Show |
23 | HG00280.hp1 HG00558.hp2 HG00642.hp2 others(20): Show |
intron_variant | MODIFIER | c.132+774_132+779dup others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATATATA others(1): Show |
7 | a0001c0001t0001g0132 a0001c0001t0002g0032 a0001c0001t0002g0044 others(4): Show |
7 | HG01123.hp1 HG01123.hp2 HG02165.hp2 others(4): Show |
intron_variant | MODIFIER | c.132+772_132+779dup others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATATATA others(3): Show |
5 | a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0051 others(2): Show |
5 | HG00140.hp1 HG01258.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.132+770_132+779dup others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATATATA others(5): Show |
3 | a0001c0001t0002g0049 a0001c0003t0001g0018 a0001c0003t0001g0048 |
3 | HG00099.hp2 HG02280.hp1 HG02559.hp1 |
intron_variant | MODIFIER | c.132+768_132+779dup others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATATATA others(7): Show |
4 | a0001c0001t0002g0047 a0001c0001t0002g0128 a0001c0003t0001g0045 others(1): Show |
4 | HG01081.hp2 HG02451.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.132+766_132+779dup others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATATATA others(11): Show |
1 | a0001c0001t0004g0131 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.132+762_132+779dup others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | AATATATA others(13): Show |
1 | a0001c0001t0001g0138 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.132+760_132+779dup others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | A | T | 1 | a0001c0001t0001g0200 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.132+747A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792688 | |||||||
| chr2:189792688 | AAT | A | 28 | a0001c0001t0001g0008 a0001c0001t0001g0190 a0001c0001t0001g0191 others(25): Show |
30 | HG00558.hp1 HG00597.hp1 HG01346.hp1 others(27): Show |
intron_variant | MODIFIER | c.132+778_132+779del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | AATAT | A | 33 | a0001c0001t0001g0011 a0001c0001t0002g0004 a0001c0001t0002g0031 others(30): Show |
34 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.132+776_132+779del others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | AATATAT | A | 24 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 others(21): Show |
25 | HG01261.hp1 HG01346.hp2 HG01884.hp2 others(22): Show |
intron_variant | MODIFIER | c.132+774_132+779del others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | AATATATA others(1): Show |
A | 10 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(7): Show |
10 | HG02135.hp2 HG02630.hp1 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.132+772_132+779del others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | AATATATA others(3): Show |
A | 7 | a0001c0001t0001g0020 a0001c0001t0001g0025 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.132+770_132+779del others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792688 | AATATATA others(5): Show |
A | 9 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(6): Show |
9 | HG03225.hp1 HG03491.hp1 HG03710.hp1 others(6): Show |
intron_variant | MODIFIER | c.132+768_132+779del others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792688 | ||||||
| chr2:189792703 | ATATATAT others(11): Show |
A | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.132+765_132+782del others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189792703 | ||||||
| chr2:189792763 | T | C | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.132+822T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792763 | |||||||
| chr2:189792795 | T | A | 1 | a0001c0001t0002g0130 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.132+854T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792795 | |||||||
| chr2:189792805 | T | G | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.132+864T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792805 | |||||||
| chr2:189792842 | C | T | 5 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0223 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+901C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792842 | |||||||
| chr2:189792874 | C | T | 89 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(86): Show |
93 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(90): Show |
intron_variant | MODIFIER | c.132+933C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189792874 | |||||||
| chr2:189793014 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.132+1073C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793014 | |||||||
| chr2:189793015 | G | A | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.132+1074G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793015 | |||||||
| chr2:189793107 | A | G | 152 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(149): Show |
157 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(154): Show |
intron_variant | MODIFIER | c.132+1166A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793107 | |||||||
| chr2:189793116 | A | G | 1 | a0001c0001t0002g0083 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.132+1175A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793116 | |||||||
| chr2:189793140 | T | C | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.132+1199T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793140 | |||||||
| chr2:189793242 | C | G | 5 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0005c0008t0001g0009 others(2): Show |
5 | HG01884.hp1 HG02109.hp2 HG03486.hp1 others(2): Show |
intron_variant | MODIFIER | c.132+1301C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793242 | |||||||
| chr2:189793283 | G | A | 1 | a0001c0001t0001g0021 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.132+1342G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793283 | |||||||
| chr2:189793593 | A | G | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.132+1652A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793593 | |||||||
| chr2:189793694 | A | G | 1 | a0001c0001t0001g0158 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.132+1753A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793694 | |||||||
| chr2:189793767 | A | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.132+1826A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793767 | |||||||
| chr2:189793780 | A | T | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.132+1839A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793780 | |||||||
| chr2:189793896 | A | G | 5 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0223 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.133-1873A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793896 | |||||||
| chr2:189793989 | C | G | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.133-1780C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189793989 | |||||||
| chr2:189794648 | G | A | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.133-1121G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189794648 | |||||||
| chr2:189794896 | A | T | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.133-873A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189794896 | |||||||
| chr2:189795052 | C | T | 2 | a0001c0001t0001g0025 a0001c0001t0001g0026 |
2 | HG03225.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.133-717C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795052 | |||||||
| chr2:189795103 | T | C | 2 | a0001c0001t0002g0084 a0001c0001t0002g0085 |
2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.133-666T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795103 | |||||||
| chr2:189795293 | AAC | A | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.133-474_133-473del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | 189795293 | ||||||
| chr2:189795301 | A | G | 2 | a0001c0001t0002g0084 a0001c0001t0002g0085 |
2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.133-468A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795301 | |||||||
| chr2:189795386 | G | A | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.133-383G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795386 | |||||||
| chr2:189795402 | C | T | 14 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(11): Show |
14 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(11): Show |
intron_variant | MODIFIER | c.133-367C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795402 | |||||||
| chr2:189795525 | A | G | 1 | a0001c0002t0001g0017 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.133-244A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795525 | |||||||
| chr2:189795577 | G | A | 17 | a0001c0001t0003g0006 a0001c0001t0003g0207 a0001c0001t0003g0208 others(14): Show |
18 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.133-192G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 2/12 | chr2 | 189795577 | |||||||
| chr2:189795957 | G | A | 6 | a0001c0001t0002g0003 a0001c0001t0002g0076 a0001c0001t0002g0077 others(3): Show |
7 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.315+6G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189795957 | |||||||
| chr2:189796235 | G | A | 1 | a0001c0001t0001g0159 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.315+284G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796235 | |||||||
| chr2:189796363 | A | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.315+412A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796363 | |||||||
| chr2:189796365 | A | AT | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.315+414_315+415ins others(1): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796365 | |||||||
| chr2:189796383 | A | G | 20 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(17): Show |
20 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(17): Show |
intron_variant | MODIFIER | c.315+432A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796383 | |||||||
| chr2:189796390 | G | T | 144 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(141): Show |
149 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(146): Show |
intron_variant | MODIFIER | c.315+439G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796390 | |||||||
| chr2:189796482 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.315+531C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796482 | |||||||
| chr2:189796739 | A | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.315+788A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796739 | |||||||
| chr2:189796815 | T | A | 1 | a0001c0001t0001g0144 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.315+864T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796815 | |||||||
| chr2:189796844 | C | T | 1 | a0001c0002t0001g0016 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.315+893C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189796844 | |||||||
| chr2:189796878 | T | TG | 90 | a0001c0001t0001g0160 a0001c0001t0002g0001 a0001c0001t0002g0003 others(87): Show |
94 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
intron_variant | MODIFIER | c.315+931dupG | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189796878 | ||||||
| chr2:189797072 | C | T | 1 | a0001c0003t0001g0048 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.315+1121C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797072 | |||||||
| chr2:189797259 | T | C | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.315+1308T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797259 | |||||||
| chr2:189797410 | C | T | 1 | a0001c0001t0002g0108 | 1 | NA19075.hp2 | intron_variant | MODIFIER | c.315+1459C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797410 | |||||||
| chr2:189797520 | T | C | 1 | a0001c0001t0002g0086 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.315+1569T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797520 | |||||||
| chr2:189797923 | A | G | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+1972A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189797923 | |||||||
| chr2:189798028 | A | G | 2 | a0001c0001t0001g0011 a0006c0007t0001g0010 |
2 | HG02109.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.315+2077A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798028 | |||||||
| chr2:189798317 | G | A | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+2366G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798317 | |||||||
| chr2:189798722 | A | AT | 5 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0223 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.315+2782dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798722 | ||||||
| chr2:189798756 | GA | G | 3 | a0001c0001t0002g0078 a0001c0001t0002g0107 a0001c0001t0002g0130 |
3 | HG01496.hp2 HG02004.hp1 NA19011.hp1 |
intron_variant | MODIFIER | c.315+2806delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798756 | |||||||
| chr2:189798756 | GAT | G | 82 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(79): Show |
86 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(83): Show |
intron_variant | MODIFIER | c.315+2806_315+2807d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798756 | |||||||
| chr2:189798757 | A | AT | 6 | a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0147 others(3): Show |
6 | HG00140.hp2 HG02155.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.315+2827dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798757 | ||||||
| chr2:189798757 | A | ATT | 13 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(10): Show |
13 | HG02895.hp2 HG02897.hp1 HG03491.hp1 others(10): Show |
intron_variant | MODIFIER | c.315+2826_315+2827d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798757 | ||||||
| chr2:189798757 | AT | A | 30 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 others(27): Show |
30 | HG00558.hp1 HG01081.hp2 HG01261.hp1 others(27): Show |
intron_variant | MODIFIER | c.315+2827delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189798757 | ||||||
| chr2:189798912 | T | G | 1 | a0001c0001t0001g0161 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.315+2961T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798912 | |||||||
| chr2:189798979 | T | C | 5 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0223 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.315+3028T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189798979 | |||||||
| chr2:189799222 | A | T | 2 | a0003c0005t0001g0223 a0008c0006t0001g0228 |
2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.315+3271A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799222 | |||||||
| chr2:189799286 | C | T | 1 | a0001c0003t0001g0048 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.315+3335C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799286 | |||||||
| chr2:189799619 | T | C | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+3668T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799619 | |||||||
| chr2:189799626 | A | G | 90 | a0001c0001t0001g0160 a0001c0001t0002g0001 a0001c0001t0002g0003 others(87): Show |
94 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
intron_variant | MODIFIER | c.315+3675A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799626 | |||||||
| chr2:189799687 | G | A | 6 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0025 others(3): Show |
6 | HG01884.hp1 HG02109.hp2 HG03225.hp1 others(3): Show |
intron_variant | MODIFIER | c.315+3736G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799687 | |||||||
| chr2:189799751 | G | C | 1 | a0001c0001t0001g0204 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.315+3800G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799751 | |||||||
| chr2:189799825 | TGGTTGA | T | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+3878_315+3883d others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189799825 | ||||||
| chr2:189799912 | A | C | 151 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(148): Show |
156 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.315+3961A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799912 | |||||||
| chr2:189799929 | A | G | 2 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.315+3978A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189799929 | |||||||
| chr2:189800098 | C | T | 8 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show |
8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.315+4147C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800098 | |||||||
| chr2:189800234 | A | G | 1 | a0001c0001t0001g0028 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.315+4283A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800234 | |||||||
| chr2:189800273 | C | T | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.315+4322C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800273 | |||||||
| chr2:189800337 | T | TA | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.315+4387dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189800337 | ||||||
| chr2:189800374 | G | A | 11 | a0001c0001t0004g0002 a0001c0001t0004g0065 a0001c0001t0004g0066 others(8): Show |
12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.315+4423G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800374 | |||||||
| chr2:189800425 | T | C | 2 | a0001c0001t0004g0131 a0001c0001t0008g0042 |
2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.315+4474T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800425 | |||||||
| chr2:189800470 | G | C | 1 | a0001c0001t0003g0209 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.315+4519G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189800470 | |||||||
| chr2:189801179 | G | A | 104 | a0001c0001t0001g0008 a0001c0001t0001g0202 a0001c0001t0002g0001 others(101): Show |
109 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(106): Show |
intron_variant | MODIFIER | c.316-4473G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801179 | |||||||
| chr2:189801262 | G | A | 4 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show |
4 | HG03834.hp1 NA18939.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.316-4390G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801262 | |||||||
| chr2:189801639 | C | T | 2 | a0001c0001t0001g0133 a0001c0001t0001g0160 |
2 | HG02615.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.316-4013C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801639 | |||||||
| chr2:189801697 | A | T | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.316-3955A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189801697 | |||||||
| chr2:189801736 | AT | A | 6 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0140 others(3): Show |
6 | HG03139.hp1 HG03209.hp2 NA18906.hp1 others(3): Show |
intron_variant | MODIFIER | c.316-3904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189801736 | ||||||
| chr2:189802289 | C | T | 1 | a0001c0001t0002g0062 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.316-3363C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802289 | |||||||
| chr2:189802343 | A | T | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.316-3309A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802343 | |||||||
| chr2:189802464 | G | C | 9 | a0001c0001t0002g0003 a0001c0001t0002g0064 a0001c0001t0002g0076 others(6): Show |
10 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(7): Show |
intron_variant | MODIFIER | c.316-3188G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802464 | |||||||
| chr2:189802589 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3063G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802589 | |||||||
| chr2:189802593 | G | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3059G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802593 | |||||||
| chr2:189802601 | T | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3051T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802601 | |||||||
| chr2:189802602 | T | G | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3050T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802602 | |||||||
| chr2:189802603 | G | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3049G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802603 | |||||||
| chr2:189802608 | A | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3044A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802608 | |||||||
| chr2:189802609 | C | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3043C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802609 | |||||||
| chr2:189802614 | C | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3038C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802614 | |||||||
| chr2:189802624 | C | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3028C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802624 | |||||||
| chr2:189802628 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3024G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802628 | |||||||
| chr2:189802629 | G | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3023G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802629 | |||||||
| chr2:189802633 | A | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3019A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802633 | |||||||
| chr2:189802634 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3018G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802634 | |||||||
| chr2:189802635 | A | G | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3017A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802635 | |||||||
| chr2:189802636 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3016G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802636 | |||||||
| chr2:189802647 | A | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3005A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802647 | |||||||
| chr2:189802651 | G | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-3001G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802651 | |||||||
| chr2:189802654 | G | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2998G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802654 | |||||||
| chr2:189802662 | T | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2990T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802662 | |||||||
| chr2:189802663 | T | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2989T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802663 | |||||||
| chr2:189802664 | G | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2988G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802664 | |||||||
| chr2:189802670 | A | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2982A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802670 | |||||||
| chr2:189802677 | A | ACACATAC others(15): Show |
1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2975_316-2974i others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802677 | |||||||
| chr2:189802685 | A | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2967A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802685 | |||||||
| chr2:189802686 | C | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2966C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802686 | |||||||
| chr2:189802689 | A | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2963A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802689 | |||||||
| chr2:189802699 | G | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2953G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802699 | |||||||
| chr2:189802700 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2952G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802700 | |||||||
| chr2:189802720 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2932G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802720 | |||||||
| chr2:189802724 | G | T | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2928G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802724 | |||||||
| chr2:189802730 | G | A | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2922G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802730 | |||||||
| chr2:189802741 | C | G | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2911C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802741 | |||||||
| chr2:189802742 | A | C | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2910A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802742 | |||||||
| chr2:189802747 | GATGGTTC others(12): Show |
G | 1 | a0001c0001t0001g0197 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.316-2904_316-2886d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802747 | |||||||
| chr2:189802845 | G | A | 1 | a0001c0001t0001g0115 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.316-2807G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802845 | |||||||
| chr2:189802879 | C | G | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.316-2773C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189802879 | |||||||
| chr2:189803115 | CTG | C | 16 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(13): Show |
16 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(13): Show |
intron_variant | MODIFIER | c.316-2534_316-2533d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189803115 | ||||||
| chr2:189803205 | T | A | 3 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0226 |
3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.316-2447T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803205 | |||||||
| chr2:189803275 | C | G | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.316-2377C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803275 | |||||||
| chr2:189803305 | G | C | 1 | a0001c0001t0003g0209 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.316-2347G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803305 | |||||||
| chr2:189803593 | C | T | 1 | a0001c0001t0001g0139 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.316-2059C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803593 | |||||||
| chr2:189803644 | C | CA | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.316-2000dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | 189803644 | ||||||
| chr2:189803887 | T | G | 3 | a0001c0001t0002g0001 a0001c0001t0002g0036 a0001c0001t0002g0037 |
4 | HG01891.hp1 HG02886.hp1 NA20129.hp2 others(1): Show |
intron_variant | MODIFIER | c.316-1765T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189803887 | |||||||
| chr2:189804143 | G | T | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.316-1509G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804143 | |||||||
| chr2:189804154 | C | A | 155 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(152): Show |
160 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(157): Show |
intron_variant | MODIFIER | c.316-1498C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804154 | |||||||
| chr2:189804230 | G | C | 2 | a0001c0001t0001g0133 a0001c0001t0001g0202 |
2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.316-1422G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804230 | |||||||
| chr2:189804388 | A | G | 1 | a0001c0002t0001g0017 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.316-1264A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804388 | |||||||
| chr2:189804470 | A | G | 1 | a0001c0001t0001g0185 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.316-1182A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804470 | |||||||
| chr2:189804491 | G | T | 11 | a0001c0001t0004g0002 a0001c0001t0004g0065 a0001c0001t0004g0066 others(8): Show |
12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.316-1161G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804491 | |||||||
| chr2:189804569 | C | T | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.316-1083C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804569 | |||||||
| chr2:189804727 | T | C | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.316-925T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804727 | |||||||
| chr2:189804774 | C | T | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.316-878C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804774 | |||||||
| chr2:189804797 | T | A | 1 | a0001c0001t0001g0162 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.316-855T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804797 | |||||||
| chr2:189804928 | C | T | 8 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show |
8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.316-724C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189804928 | |||||||
| chr2:189805016 | T | C | 4 | a0001c0003t0001g0018 a0001c0003t0001g0045 a0001c0003t0001g0046 others(1): Show |
4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.316-636T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805016 | |||||||
| chr2:189805139 | G | A | 1 | a0001c0001t0001g0190 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.316-513G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805139 | |||||||
| chr2:189805316 | A | G | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.316-336A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805316 | |||||||
| chr2:189805355 | A | G | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.316-297A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805355 | |||||||
| chr2:189805394 | G | T | 2 | a0001c0001t0001g0025 a0001c0001t0001g0026 |
2 | HG03225.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.316-258G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 3/12 | chr2 | 189805394 | |||||||
| chr2:189805813 | T | TA | 86 | a0001c0001t0001g0160 a0001c0001t0002g0001 a0001c0001t0002g0003 others(83): Show |
90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.418+70dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189805813 | ||||||
| chr2:189805918 | C | T | 1 | a0001c0001t0003g0221 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.418+164C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189805918 | |||||||
| chr2:189806004 | A | G | 2 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.418+250A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806004 | |||||||
| chr2:189806082 | CAT | C | 86 | a0001c0001t0001g0160 a0001c0001t0002g0001 a0001c0001t0002g0003 others(83): Show |
90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.418+332_418+333del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189806082 | ||||||
| chr2:189806122 | G | T | 1 | a0001c0001t0002g0062 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.418+368G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806122 | |||||||
| chr2:189806148 | T | A | 1 | a0001c0001t0001g0191 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.418+394T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806148 | |||||||
| chr2:189806190 | A | G | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.418+436A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806190 | |||||||
| chr2:189806328 | G | A | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.418+574G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806328 | |||||||
| chr2:189806428 | C | T | 1 | a0001c0001t0001g0028 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.418+674C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806428 | |||||||
| chr2:189806529 | C | T | 86 | a0001c0001t0001g0160 a0001c0001t0002g0001 a0001c0001t0002g0003 others(83): Show |
90 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(87): Show |
intron_variant | MODIFIER | c.418+775C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806529 | |||||||
| chr2:189806625 | G | T | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.418+871G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806625 | |||||||
| chr2:189806961 | C | T | 1 | a0001c0001t0003g0221 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.418+1207C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806961 | |||||||
| chr2:189806969 | G | A | 3 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0128 |
3 | HG02451.hp2 HG02615.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.418+1215G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189806969 | |||||||
| chr2:189807054 | A | G | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.418+1300A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807054 | |||||||
| chr2:189807093 | C | A | 1 | a0001c0001t0001g0029 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.418+1339C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807093 | |||||||
| chr2:189807122 | C | G | 1 | a0001c0001t0001g0160 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.418+1368C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807122 | |||||||
| chr2:189807159 | T | G | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.418+1405T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807159 | |||||||
| chr2:189807520 | C | T | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.418+1766C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807520 | |||||||
| chr2:189807898 | A | C | 87 | a0001c0001t0001g0160 a0001c0001t0001g0189 a0001c0001t0002g0001 others(84): Show |
91 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(88): Show |
intron_variant | MODIFIER | c.418+2144A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807898 | |||||||
| chr2:189807943 | A | C | 1 | a0001c0001t0001g0019 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.418+2189A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807943 | |||||||
| chr2:189807959 | T | A | 24 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(21): Show |
24 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(21): Show |
intron_variant | MODIFIER | c.418+2205T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807959 | |||||||
| chr2:189807974 | A | G | 1 | a0001c0001t0001g0138 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.418+2220A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189807974 | |||||||
| chr2:189808103 | G | A | 2 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.418+2349G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808103 | |||||||
| chr2:189808148 | T | C | 9 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show |
9 | HG01261.hp1 HG02109.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.418+2394T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808148 | |||||||
| chr2:189808378 | A | G | 1 | a0001c0001t0002g0106 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.418+2624A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808378 | |||||||
| chr2:189808389 | G | A | 1 | a0001c0001t0001g0019 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.418+2635G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808389 | |||||||
| chr2:189808945 | A | C | 1 | a0001c0001t0002g0105 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.418+3191A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189808945 | |||||||
| chr2:189809057 | T | C | 4 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(1): Show |
4 | HG03834.hp1 NA18939.hp1 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.418+3303T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809057 | |||||||
| chr2:189809109 | C | T | 85 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(82): Show |
89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.418+3355C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809109 | |||||||
| chr2:189809112 | T | C | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.418+3358T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809112 | |||||||
| chr2:189809208 | A | T | 1 | a0001c0001t0001g0138 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.418+3454A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809208 | |||||||
| chr2:189809447 | C | CT | 17 | a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0183 others(14): Show |
17 | HG00597.hp1 HG00642.hp1 HG01981.hp2 others(14): Show |
intron_variant | MODIFIER | c.418+3720dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | C | CTT | 21 | a0001c0001t0001g0160 a0001c0001t0001g0184 a0001c0001t0002g0032 others(18): Show |
21 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(18): Show |
intron_variant | MODIFIER | c.418+3719_418+3720d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | C | CTTT | 14 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 others(11): Show |
14 | HG01069.hp1 HG01123.hp2 HG02257.hp1 others(11): Show |
intron_variant | MODIFIER | c.418+3718_418+3720d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | C | CTTTT | 10 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 others(7): Show |
10 | HG02055.hp1 HG03139.hp1 HG03225.hp2 others(7): Show |
intron_variant | MODIFIER | c.418+3717_418+3720d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | C | CTTTTTTT others(2): Show |
6 | a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 others(3): Show |
6 | HG01261.hp1 HG02109.hp1 HG02486.hp2 others(3): Show |
intron_variant | MODIFIER | c.418+3712_418+3720d others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | C | CTTTTTTT others(3): Show |
6 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(3): Show |
6 | HG02976.hp1 HG03490.hp2 HG03834.hp1 others(3): Show |
intron_variant | MODIFIER | c.418+3711_418+3720d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | C | CTTTTTTT others(4): Show |
4 | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0126 others(1): Show |
4 | HG02135.hp2 HG02257.hp2 HG02970.hp1 others(1): Show |
intron_variant | MODIFIER | c.418+3710_418+3720d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | CTTTTTT | C | 8 | a0001c0001t0002g0003 a0001c0001t0002g0037 a0001c0001t0002g0040 others(5): Show |
9 | HG01346.hp1 HG01928.hp2 HG01981.hp1 others(6): Show |
intron_variant | MODIFIER | c.418+3715_418+3720d others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | CTTTTTTT | C | 53 | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0031 others(50): Show |
56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.418+3714_418+3720d others(9): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809447 | CTTTTTTT others(6): Show |
C | 1 | a0001c0001t0003g0210 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.418+3708_418+3720d others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189809447 | ||||||
| chr2:189809462 | T | C | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.418+3708T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809462 | |||||||
| chr2:189809581 | C | T | 3 | a0001c0001t0001g0138 a0001c0001t0001g0156 a0001c0001t0001g0157 |
3 | NA18967.hp2 NA19068.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.418+3827C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809581 | |||||||
| chr2:189809873 | T | G | 9 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 others(6): Show |
9 | HG01261.hp1 HG02109.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.418+4119T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809873 | |||||||
| chr2:189809907 | A | G | 1 | a0001c0001t0001g0182 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.418+4153A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189809907 | |||||||
| chr2:189810705 | A | G | 2 | a0003c0005t0001g0223 a0008c0006t0001g0228 |
2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.418+4951A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189810705 | |||||||
| chr2:189810980 | C | CA | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.418+5239dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189810980 | ||||||
| chr2:189810980 | C | CAA | 6 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show |
6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.418+5238_418+5239d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189810980 | ||||||
| chr2:189810980 | CA | C | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.418+5239delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189810980 | ||||||
| chr2:189811058 | G | C | 1 | a0001c0001t0003g0208 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.418+5304G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811058 | |||||||
| chr2:189811171 | C | A | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.418+5417C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811171 | |||||||
| chr2:189811173 | C | T | 23 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(20): Show |
23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.418+5419C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811173 | |||||||
| chr2:189811281 | G | GA | 47 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(44): Show |
47 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(44): Show |
intron_variant | MODIFIER | c.418+5544dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | ||||||
| chr2:189811281 | G | GAA | 5 | a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 others(2): Show |
5 | HG02630.hp1 HG02886.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.418+5543_418+5544d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | ||||||
| chr2:189811281 | GA | G | 34 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(31): Show |
35 | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(32): Show |
intron_variant | MODIFIER | c.418+5544delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | ||||||
| chr2:189811281 | GAA | G | 8 | a0001c0001t0001g0008 a0001c0001t0003g0222 a0001c0002t0001g0013 others(5): Show |
8 | HG01069.hp1 HG02055.hp1 HG03041.hp2 others(5): Show |
intron_variant | MODIFIER | c.418+5543_418+5544d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811281 | ||||||
| chr2:189811433 | C | G | 2 | a0001c0001t0001g0133 a0001c0001t0001g0160 |
2 | HG02615.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.418+5679C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811433 | |||||||
| chr2:189811464 | G | A | 15 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show |
15 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(12): Show |
intron_variant | MODIFIER | c.418+5710G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811464 | |||||||
| chr2:189811589 | T | C | 23 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(20): Show |
23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.418+5835T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811589 | |||||||
| chr2:189811601 | C | CA | 15 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show |
15 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(12): Show |
intron_variant | MODIFIER | c.418+5855dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189811601 | ||||||
| chr2:189811760 | C | T | 1 | a0001c0002t0001g0014 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.418+6006C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811760 | |||||||
| chr2:189811761 | G | A | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.418+6007G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811761 | |||||||
| chr2:189811860 | G | A | 1 | a0001c0001t0001g0184 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.418+6106G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811860 | |||||||
| chr2:189811988 | A | G | 1 | a0003c0005t0001g0226 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.419-6029A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189811988 | |||||||
| chr2:189812023 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.419-5994G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812023 | |||||||
| chr2:189812029 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.419-5988G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812029 | |||||||
| chr2:189812147 | G | A | 85 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(82): Show |
89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.419-5870G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812147 | |||||||
| chr2:189812169 | T | C | 151 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(148): Show |
156 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.419-5848T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812169 | |||||||
| chr2:189812216 | G | A | 1 | a0001c0003t0001g0045 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.419-5801G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812216 | |||||||
| chr2:189812249 | C | T | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.419-5768C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812249 | |||||||
| chr2:189812258 | G | A | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.419-5759G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812258 | |||||||
| chr2:189812298 | A | G | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-5719A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812298 | |||||||
| chr2:189812579 | A | T | 1 | a0001c0001t0001g0120 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.419-5438A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812579 | |||||||
| chr2:189812612 | C | CTTTTCAA others(7): Show |
1 | a0001c0001t0001g0125 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.419-5405_419-5404i others(16): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812612 | |||||||
| chr2:189812613 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG03490.hp2 | intron_variant | MODIFIER | c.419-5404G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812613 | |||||||
| chr2:189812674 | A | G | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-5343A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812674 | |||||||
| chr2:189812801 | A | G | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.419-5216A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812801 | |||||||
| chr2:189812879 | C | T | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.419-5138C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189812879 | |||||||
| chr2:189813380 | C | T | 1 | a0001c0001t0002g0085 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.419-4637C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813380 | |||||||
| chr2:189813456 | G | A | 1 | a0001c0001t0001g0145 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.419-4561G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813456 | |||||||
| chr2:189813574 | T | A | 1 | a0001c0001t0001g0165 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.419-4443T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813574 | |||||||
| chr2:189813808 | C | G | 1 | a0001c0001t0001g0185 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.419-4209C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813808 | |||||||
| chr2:189813819 | G | A | 62 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(59): Show |
66 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(63): Show |
intron_variant | MODIFIER | c.419-4198G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813819 | |||||||
| chr2:189813938 | T | C | 1 | a0001c0001t0001g0126 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.419-4079T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189813938 | |||||||
| chr2:189814077 | A | C | 85 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(82): Show |
89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.419-3940A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814077 | |||||||
| chr2:189814101 | T | C | 3 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0226 |
3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.419-3916T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814101 | |||||||
| chr2:189814141 | AGCCAAAG others(9): Show |
A | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-3859_419-3844d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189814141 | ||||||
| chr2:189814309 | C | A | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-3708C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814309 | |||||||
| chr2:189814316 | C | A | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.419-3701C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814316 | |||||||
| chr2:189814317 | A | C | 26 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(23): Show |
26 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(23): Show |
intron_variant | MODIFIER | c.419-3700A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814317 | |||||||
| chr2:189814515 | C | CATAA | 145 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(142): Show |
150 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(147): Show |
intron_variant | MODIFIER | c.419-3493_419-3490d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189814515 | ||||||
| chr2:189814614 | C | A | 1 | a0001c0001t0001g0166 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.419-3403C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814614 | |||||||
| chr2:189814659 | T | C | 1 | a0001c0001t0001g0167 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.419-3358T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814659 | |||||||
| chr2:189814714 | T | C | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-3303T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814714 | |||||||
| chr2:189814968 | A | G | 123 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(120): Show |
127 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(124): Show |
intron_variant | MODIFIER | c.419-3049A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814968 | |||||||
| chr2:189814992 | A | G | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.419-3025A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189814992 | |||||||
| chr2:189815054 | A | G | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-2963A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815054 | |||||||
| chr2:189815060 | C | T | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.419-2957C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815060 | |||||||
| chr2:189815076 | G | C | 1 | a0001c0003t0001g0048 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.419-2941G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815076 | |||||||
| chr2:189815096 | C | CA | 5 | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0133 others(2): Show |
5 | HG02280.hp1 HG02615.hp1 NA18522.hp2 others(2): Show |
intron_variant | MODIFIER | c.419-2903dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189815096 | ||||||
| chr2:189815485 | G | A | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.419-2532G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815485 | |||||||
| chr2:189815534 | C | G | 1 | a0001c0003t0001g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.419-2483C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815534 | |||||||
| chr2:189815670 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.419-2347G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815670 | |||||||
| chr2:189815711 | C | A | 6 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show |
6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-2306C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815711 | |||||||
| chr2:189815926 | C | A | 1 | a0001c0003t0001g0046 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.419-2091C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815926 | |||||||
| chr2:189815946 | C | T | 2 | a0001c0001t0001g0133 a0001c0001t0001g0202 |
2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.419-2071C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815946 | |||||||
| chr2:189815975 | C | G | 30 | a0001c0001t0002g0004 a0001c0001t0002g0031 a0001c0001t0002g0081 others(27): Show |
31 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(28): Show |
intron_variant | MODIFIER | c.419-2042C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189815975 | |||||||
| chr2:189816279 | T | C | 2 | a0001c0001t0001g0133 a0001c0001t0001g0202 |
2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.419-1738T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816279 | |||||||
| chr2:189816346 | T | C | 1 | a0001c0003t0001g0048 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.419-1671T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816346 | |||||||
| chr2:189816371 | ATTGT | A | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.419-1641_419-1638d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189816371 | ||||||
| chr2:189816580 | A | G | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-1437A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816580 | |||||||
| chr2:189816621 | GTTTCTTT others(32): Show |
G | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.419-1381_419-1343d others(41): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189816621 | ||||||
| chr2:189816893 | AT | A | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-1123delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816893 | |||||||
| chr2:189816946 | TTCTA | T | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-1067_419-1064d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | 189816946 | ||||||
| chr2:189816974 | A | T | 21 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(18): Show |
21 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(18): Show |
intron_variant | MODIFIER | c.419-1043A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816974 | |||||||
| chr2:189816975 | A | T | 2 | a0001c0001t0001g0133 a0001c0001t0001g0202 |
2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.419-1042A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189816975 | |||||||
| chr2:189817068 | T | C | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.419-949T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817068 | |||||||
| chr2:189817241 | C | T | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.419-776C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817241 | |||||||
| chr2:189817675 | A | G | 6 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show |
6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-342A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817675 | |||||||
| chr2:189817821 | C | T | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-196C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817821 | |||||||
| chr2:189817860 | G | A | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.419-157G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817860 | |||||||
| chr2:189817906 | G | C | 85 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(82): Show |
89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.419-111G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817906 | |||||||
| chr2:189817925 | A | G | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.419-92A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 4/12 | chr2 | 189817925 | |||||||
| chr2:189818226 | T | TAAAC | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(22): Show |
intron_variant | MODIFIER | c.582+49_582+52dupAC others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189818226 | ||||||
| chr2:189818366 | C | G | 1 | a0001c0001t0001g0181 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.582+186C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818366 | |||||||
| chr2:189818539 | A | G | 51 | a0001c0001t0001g0160 a0001c0001t0002g0003 a0001c0001t0002g0004 others(48): Show |
54 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.582+359A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818539 | |||||||
| chr2:189818642 | TAGTTTTA others(16): Show |
T | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.582+466_582+488del others(23): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189818642 | ||||||
| chr2:189818694 | A | G | 4 | a0001c0003t0001g0018 a0001c0003t0001g0045 a0001c0003t0001g0046 others(1): Show |
4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.582+514A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818694 | |||||||
| chr2:189818964 | G | T | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.582+784G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189818964 | |||||||
| chr2:189819062 | T | C | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.582+882T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819062 | |||||||
| chr2:189819333 | G | C | 1 | a0001c0001t0002g0087 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.582+1153G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819333 | |||||||
| chr2:189819358 | C | T | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.582+1178C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819358 | |||||||
| chr2:189819640 | A | C | 1 | a0001c0001t0002g0047 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.582+1460A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819640 | |||||||
| chr2:189819942 | T | A | 23 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(20): Show |
23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.582+1762T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819942 | |||||||
| chr2:189819963 | A | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+1783A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189819963 | |||||||
| chr2:189820006 | G | A | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.582+1826G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820006 | |||||||
| chr2:189820056 | A | G | 61 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(58): Show |
61 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(58): Show |
intron_variant | MODIFIER | c.582+1876A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820056 | |||||||
| chr2:189820156 | G | C | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+1976G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820156 | |||||||
| chr2:189820302 | C | CT | 8 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(5): Show |
8 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(5): Show |
intron_variant | MODIFIER | c.582+2132dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189820302 | ||||||
| chr2:189820409 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.582+2229C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820409 | |||||||
| chr2:189820414 | C | T | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+2234C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820414 | |||||||
| chr2:189820471 | A | T | 7 | a0001c0001t0002g0004 a0001c0001t0002g0086 a0001c0001t0002g0102 others(4): Show |
8 | HG00544.hp1 HG02523.hp2 NA18941.hp1 others(5): Show |
intron_variant | MODIFIER | c.582+2291A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820471 | |||||||
| chr2:189820668 | C | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+2488C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820668 | |||||||
| chr2:189820686 | T | C | 1 | a0001c0003t0001g0048 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.582+2506T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820686 | |||||||
| chr2:189820834 | T | C | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.582+2654T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189820834 | |||||||
| chr2:189821155 | A | G | 1 | a0001c0001t0003g0217 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.582+2975A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821155 | |||||||
| chr2:189821300 | C | CA | 3 | a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0202 |
3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+3125dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821300 | ||||||
| chr2:189821300 | C | T | 33 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(30): Show |
33 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(30): Show |
intron_variant | MODIFIER | c.582+3120C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821300 | |||||||
| chr2:189821324 | A | G | 1 | a0001c0001t0001g0019 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.582+3144A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821324 | |||||||
| chr2:189821398 | C | T | 1 | a0001c0001t0002g0052 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.582+3218C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821398 | |||||||
| chr2:189821451 | C | T | 1 | a0001c0001t0001g0008 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.582+3271C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821451 | |||||||
| chr2:189821456 | C | CA | 10 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 others(7): Show |
10 | HG01496.hp2 HG01981.hp2 HG02165.hp1 others(7): Show |
intron_variant | MODIFIER | c.582+3291dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821456 | ||||||
| chr2:189821456 | C | CAA | 64 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 others(61): Show |
68 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.582+3290_582+3291d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821456 | ||||||
| chr2:189821468 | A | AAG | 23 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 others(20): Show |
23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.582+3289_582+3290i others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189821468 | ||||||
| chr2:189821468 | A | G | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+3288A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821468 | |||||||
| chr2:189821471 | A | G | 12 | a0001c0001t0003g0006 a0001c0001t0003g0210 a0001c0001t0003g0214 others(9): Show |
13 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.582+3291A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821471 | |||||||
| chr2:189821792 | G | A | 1 | a0001c0001t0001g0127 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.582+3612G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821792 | |||||||
| chr2:189821842 | A | C | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.582+3662A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821842 | |||||||
| chr2:189821979 | C | T | 3 | a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG00733.hp1 HG01257.hp1 HG01943.hp1 |
intron_variant | MODIFIER | c.582+3799C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189821979 | |||||||
| chr2:189822015 | C | T | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+3835C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822015 | |||||||
| chr2:189822118 | G | A | 1 | a0001c0001t0002g0085 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.582+3938G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822118 | |||||||
| chr2:189822198 | G | C | 2 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.582+4018G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822198 | |||||||
| chr2:189822238 | C | T | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+4058C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822238 | |||||||
| chr2:189822390 | A | G | 1 | a0001c0001t0001g0028 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.582+4210A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822390 | |||||||
| chr2:189822403 | A | G | 11 | a0001c0001t0004g0002 a0001c0001t0004g0065 a0001c0001t0004g0066 others(8): Show |
12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.582+4223A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822403 | |||||||
| chr2:189822404 | A | C | 11 | a0001c0001t0004g0002 a0001c0001t0004g0065 a0001c0001t0004g0066 others(8): Show |
12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.582+4224A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822404 | |||||||
| chr2:189822449 | G | GT | 23 | a0001c0001t0001g0126 a0001c0001t0002g0032 a0001c0001t0002g0033 others(20): Show |
23 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(20): Show |
intron_variant | MODIFIER | c.582+4278dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189822449 | ||||||
| chr2:189822613 | A | G | 1 | a0005c0008t0001g0009 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.582+4433A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822613 | |||||||
| chr2:189822890 | C | A | 1 | a0001c0001t0006g0169 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.582+4710C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822890 | |||||||
| chr2:189822960 | A | G | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.582+4780A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189822960 | |||||||
| chr2:189823077 | CT | C | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+4904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189823077 | ||||||
| chr2:189823203 | A | G | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+5023A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189823203 | |||||||
| chr2:189823271 | T | A | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+5091T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189823271 | |||||||
| chr2:189823518 | G | A | 154 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(151): Show |
159 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(156): Show |
intron_variant | MODIFIER | c.582+5338G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189823518 | |||||||
| chr2:189824270 | C | T | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(15): Show |
intron_variant | MODIFIER | c.582+6090C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824270 | |||||||
| chr2:189824364 | A | G | 3 | a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 |
3 | HG00733.hp1 HG01257.hp1 HG01943.hp1 |
intron_variant | MODIFIER | c.582+6184A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824364 | |||||||
| chr2:189824484 | A | C | 3 | a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0202 |
3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+6304A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824484 | |||||||
| chr2:189824519 | G | C | 1 | a0001c0001t0001g0127 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.582+6339G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824519 | |||||||
| chr2:189824558 | G | A | 85 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(82): Show |
89 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
intron_variant | MODIFIER | c.582+6378G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824558 | |||||||
| chr2:189824812 | A | G | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+6632A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189824812 | |||||||
| chr2:189824998 | A | AT | 33 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(30): Show |
33 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(30): Show |
intron_variant | MODIFIER | c.582+6821dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189824998 | ||||||
| chr2:189825045 | G | A | 128 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(125): Show |
132 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.582+6865G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825045 | |||||||
| chr2:189825117 | T | C | 39 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(36): Show |
39 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(36): Show |
intron_variant | MODIFIER | c.582+6937T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825117 | |||||||
| chr2:189825440 | AAC | A | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.582+7262_582+7263d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189825440 | ||||||
| chr2:189825727 | G | A | 3 | a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0202 |
3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+7547G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825727 | |||||||
| chr2:189825791 | A | C | 24 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(21): Show |
24 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(21): Show |
intron_variant | MODIFIER | c.582+7611A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825791 | |||||||
| chr2:189825791 | A | G | 3 | a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0202 |
3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+7611A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825791 | |||||||
| chr2:189825847 | T | TTTG | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+7682_582+7684d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189825847 | ||||||
| chr2:189825961 | A | G | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+7781A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825961 | |||||||
| chr2:189825999 | C | T | 128 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(125): Show |
132 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(129): Show |
intron_variant | MODIFIER | c.582+7819C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189825999 | |||||||
| chr2:189826027 | A | G | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+7847A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826027 | |||||||
| chr2:189826043 | T | G | 39 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(36): Show |
39 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(36): Show |
intron_variant | MODIFIER | c.582+7863T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826043 | |||||||
| chr2:189826054 | C | G | 2 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.582+7874C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826054 | |||||||
| chr2:189826067 | C | A | 1 | a0001c0001t0004g0129 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.582+7887C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826067 | |||||||
| chr2:189826189 | G | A | 11 | a0001c0001t0004g0002 a0001c0001t0004g0065 a0001c0001t0004g0066 others(8): Show |
12 | HG02559.hp2 HG02572.hp2 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.582+8009G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826189 | |||||||
| chr2:189826225 | G | C | 159 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(156): Show |
164 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(161): Show |
intron_variant | MODIFIER | c.582+8045G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826225 | |||||||
| chr2:189826449 | T | C | 33 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(30): Show |
33 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(30): Show |
intron_variant | MODIFIER | c.582+8269T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826449 | |||||||
| chr2:189826450 | C | CT | 11 | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0003g0207 others(8): Show |
11 | HG01081.hp2 HG02055.hp1 HG02895.hp2 others(8): Show |
intron_variant | MODIFIER | c.582+8284dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189826450 | ||||||
| chr2:189826531 | A | ATTCTT | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+8353_582+8354i others(7): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189826531 | ||||||
| chr2:189826627 | T | A | 1 | a0005c0008t0001g0009 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.582+8447T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826627 | |||||||
| chr2:189826862 | C | G | 2 | a0001c0003t0001g0045 a0001c0003t0001g0046 |
2 | HG01081.hp2 HG03453.hp1 |
intron_variant | MODIFIER | c.582+8682C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826862 | |||||||
| chr2:189826938 | A | G | 34 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(31): Show |
34 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(31): Show |
intron_variant | MODIFIER | c.582+8758A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189826938 | |||||||
| chr2:189827077 | A | T | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+8897A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827077 | |||||||
| chr2:189827450 | T | C | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+9270T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827450 | |||||||
| chr2:189827501 | A | G | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(16): Show |
intron_variant | MODIFIER | c.582+9321A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827501 | |||||||
| chr2:189827597 | A | G | 3 | a0001c0001t0001g0133 a0001c0001t0001g0160 a0001c0001t0001g0202 |
3 | HG02615.hp1 HG02965.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.582+9417A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827597 | |||||||
| chr2:189827603 | G | A | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.582+9423G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827603 | |||||||
| chr2:189827606 | T | A | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.582+9426T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827606 | |||||||
| chr2:189827623 | AT | A | 6 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(3): Show |
6 | HG01884.hp1 HG02109.hp2 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9444delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827623 | |||||||
| chr2:189827710 | G | A | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+9530G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827710 | |||||||
| chr2:189827748 | G | A | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9568G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827748 | |||||||
| chr2:189827775 | T | C | 1 | a0001c0001t0001g0204 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.582+9595T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827775 | |||||||
| chr2:189827914 | T | TTTTG | 13 | a0001c0001t0001g0028 a0001c0001t0001g0133 a0001c0001t0001g0145 others(10): Show |
13 | HG01069.hp1 HG02055.hp1 HG02148.hp1 others(10): Show |
intron_variant | MODIFIER | c.582+9759_582+9762d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189827914 | ||||||
| chr2:189827914 | T | TTTTGTTT others(1): Show |
14 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(11): Show |
15 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(12): Show |
intron_variant | MODIFIER | c.582+9755_582+9762d others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189827914 | ||||||
| chr2:189827938 | G | GTTTGTTT others(5): Show |
3 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 |
3 | HG02895.hp2 HG02897.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.582+9762_582+9763i others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189827938 | ||||||
| chr2:189827938 | G | T | 2 | a0003c0005t0001g0223 a0008c0006t0001g0228 |
2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.582+9758G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827938 | |||||||
| chr2:189827977 | G | A | 1 | a0007c0011t0004g0072 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.582+9797G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189827977 | |||||||
| chr2:189828025 | G | A | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9845G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828025 | |||||||
| chr2:189828072 | T | TACC | 9 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(6): Show |
9 | HG03491.hp1 HG03710.hp1 HG03942.hp2 others(6): Show |
intron_variant | MODIFIER | c.582+9898_582+9900d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828072 | ||||||
| chr2:189828084 | C | T | 1 | a0001c0001t0001g0028 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.582+9904C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828084 | |||||||
| chr2:189828085 | G | A | 2 | a0001c0001t0004g0131 a0001c0001t0008g0042 |
2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.582+9905G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828085 | |||||||
| chr2:189828097 | GT | G | 38 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(35): Show |
38 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(35): Show |
intron_variant | MODIFIER | c.582+9925delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828097 | ||||||
| chr2:189828100 | T | A | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+9920T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828100 | |||||||
| chr2:189828114 | C | T | 2 | a0001c0001t0001g0151 a0001c0001t0001g0152 |
2 | NA18956.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.582+9934C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828114 | |||||||
| chr2:189828116 | G | A | 1 | a0001c0001t0002g0088 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.582+9936G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828116 | |||||||
| chr2:189828486 | A | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.582+10306A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828486 | |||||||
| chr2:189828639 | C | G | 1 | a0001c0001t0004g0074 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.582+10459C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828639 | |||||||
| chr2:189828706 | C | T | 9 | a0001c0001t0001g0135 a0001c0001t0001g0144 a0001c0001t0001g0150 others(6): Show |
9 | HG00423.hp1 HG02083.hp1 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.582+10526C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828706 | |||||||
| chr2:189828887 | G | GA | 106 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(103): Show |
110 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(107): Show |
intron_variant | MODIFIER | c.582+10724dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828887 | ||||||
| chr2:189828887 | G | GAA | 18 | a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0028 others(15): Show |
19 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.582+10723_582+1072 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828887 | ||||||
| chr2:189828887 | GA | G | 5 | a0001c0001t0001g0114 a0001c0001t0001g0149 a0001c0001t0001g0155 others(2): Show |
5 | HG03486.hp1 NA18948.hp1 NA18953.hp2 others(2): Show |
intron_variant | MODIFIER | c.582+10724delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189828887 | ||||||
| chr2:189828888 | A | G | 1 | a0001c0001t0001g0115 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.582+10708A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828888 | |||||||
| chr2:189828981 | T | A | 1 | a0001c0001t0001g0147 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.582+10801T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828981 | |||||||
| chr2:189828988 | A | G | 7 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(4): Show |
intron_variant | MODIFIER | c.582+10808A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189828988 | |||||||
| chr2:189829301 | C | T | 1 | a0001c0001t0002g0047 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.582+11121C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829301 | |||||||
| chr2:189829360 | G | A | 1 | a0001c0001t0001g0160 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.582+11180G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829360 | |||||||
| chr2:189829449 | C | T | 153 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(150): Show |
158 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(155): Show |
intron_variant | MODIFIER | c.582+11269C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829449 | |||||||
| chr2:189829456 | G | C | 1 | a0001c0001t0001g0200 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.582+11276G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829456 | |||||||
| chr2:189829540 | G | T | 118 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(115): Show |
122 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(119): Show |
intron_variant | MODIFIER | c.582+11360G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829540 | |||||||
| chr2:189829551 | A | C | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.582+11371A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829551 | |||||||
| chr2:189829606 | G | A | 1 | a0001c0001t0002g0044 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.582+11426G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829606 | |||||||
| chr2:189829723 | C | T | 109 | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0026 others(106): Show |
113 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(110): Show |
intron_variant | MODIFIER | c.582+11543C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829723 | |||||||
| chr2:189829844 | C | G | 16 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(13): Show |
17 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(14): Show |
intron_variant | MODIFIER | c.582+11664C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829844 | |||||||
| chr2:189829875 | A | G | 2 | a0003c0005t0001g0223 a0008c0006t0001g0228 |
2 | HG03139.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.582+11695A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189829875 | |||||||
| chr2:189830324 | C | T | 1 | a0001c0001t0002g0061 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.582+12144C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830324 | |||||||
| chr2:189830355 | C | T | 1 | a0001c0001t0002g0106 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.582+12175C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830355 | |||||||
| chr2:189830413 | A | G | 16 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(13): Show |
16 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(13): Show |
intron_variant | MODIFIER | c.582+12233A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830413 | |||||||
| chr2:189830442 | G | A | 1 | a0001c0001t0001g0019 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.582+12262G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830442 | |||||||
| chr2:189830737 | T | C | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.582+12557T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830737 | |||||||
| chr2:189830776 | C | A | 1 | a0001c0001t0002g0087 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.582+12596C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189830776 | |||||||
| chr2:189831130 | A | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.583-12834A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831130 | |||||||
| chr2:189831543 | T | C | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-12421T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831543 | |||||||
| chr2:189831664 | A | T | 1 | a0001c0001t0002g0099 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.583-12300A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831664 | |||||||
| chr2:189831732 | A | G | 4 | a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show |
4 | HG00733.hp1 HG01257.hp1 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.583-12232A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831732 | |||||||
| chr2:189831784 | T | A | 4 | a0001c0003t0001g0018 a0001c0003t0001g0045 a0001c0003t0001g0046 others(1): Show |
4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.583-12180T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831784 | |||||||
| chr2:189831789 | A | T | 8 | a0001c0001t0001g0025 a0001c0001t0001g0201 a0001c0001t0003g0207 others(5): Show |
8 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(5): Show |
intron_variant | MODIFIER | c.583-12175A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831789 | |||||||
| chr2:189831790 | T | A | 1 | a0001c0001t0002g0128 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.583-12174T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831790 | |||||||
| chr2:189831922 | G | T | 1 | a0001c0001t0001g0030 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.583-12042G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831922 | |||||||
| chr2:189831962 | C | T | 14 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(11): Show |
15 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.583-12002C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189831962 | |||||||
| chr2:189832198 | A | G | 51 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(48): Show |
52 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show |
intron_variant | MODIFIER | c.583-11766A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832198 | |||||||
| chr2:189832412 | A | G | 1 | a0001c0001t0003g0207 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.583-11552A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832412 | |||||||
| chr2:189832444 | T | C | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-11520T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832444 | |||||||
| chr2:189832457 | C | G | 14 | a0001c0001t0001g0008 a0001c0001t0003g0006 a0001c0001t0003g0208 others(11): Show |
15 | HG01884.hp2 HG01891.hp2 HG02145.hp1 others(12): Show |
intron_variant | MODIFIER | c.583-11507C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832457 | |||||||
| chr2:189832568 | C | T | 25 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(22): Show |
26 | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(23): Show |
intron_variant | MODIFIER | c.583-11396C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832568 | |||||||
| chr2:189832613 | G | C | 26 | a0001c0001t0001g0025 a0001c0001t0001g0134 a0001c0001t0001g0183 others(23): Show |
26 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(23): Show |
intron_variant | MODIFIER | c.583-11351G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832613 | |||||||
| chr2:189832699 | G | A | 25 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(22): Show |
26 | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(23): Show |
intron_variant | MODIFIER | c.583-11265G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832699 | |||||||
| chr2:189832925 | C | CA | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-11035dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189832925 | ||||||
| chr2:189832977 | A | G | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-10987A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189832977 | |||||||
| chr2:189833027 | A | C | 1 | a0001c0001t0001g0143 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.583-10937A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833027 | |||||||
| chr2:189833028 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.583-10936C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833028 | |||||||
| chr2:189833109 | T | G | 1 | a0008c0006t0001g0228 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.583-10855T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833109 | |||||||
| chr2:189833417 | A | G | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10547A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833417 | |||||||
| chr2:189833420 | A | G | 2 | a0001c0001t0001g0183 a0001c0001t0002g0060 |
2 | HG00642.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.583-10544A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833420 | |||||||
| chr2:189833448 | G | A | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10516G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833448 | |||||||
| chr2:189833452 | C | T | 3 | a0001c0001t0004g0131 a0001c0001t0007g0212 a0001c0001t0008g0042 |
3 | HG02717.hp1 HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.583-10512C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833452 | |||||||
| chr2:189833475 | A | G | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10489A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833475 | |||||||
| chr2:189833519 | T | C | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.583-10445T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833519 | |||||||
| chr2:189833571 | A | ACT | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10392_583-1039 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189833571 | ||||||
| chr2:189833580 | A | G | 1 | a0001c0001t0001g0134 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.583-10384A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833580 | |||||||
| chr2:189833602 | A | G | 1 | a0001c0001t0001g0201 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.583-10362A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833602 | |||||||
| chr2:189833630 | T | C | 1 | a0001c0001t0003g0208 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.583-10334T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833630 | |||||||
| chr2:189833665 | T | G | 1 | a0001c0001t0001g0158 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.583-10299T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833665 | |||||||
| chr2:189833792 | A | G | 1 | a0001c0001t0001g0203 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.583-10172A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833792 | |||||||
| chr2:189833828 | G | A | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-10136G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833828 | |||||||
| chr2:189833873 | A | G | 1 | a0001c0001t0003g0211 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.583-10091A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189833873 | |||||||
| chr2:189834087 | G | GAGAA | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-9875_583-9874i others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189834087 | ||||||
| chr2:189834089 | G | A | 2 | a0001c0001t0001g0163 a0001c0001t0001g0164 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.583-9875G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834089 | |||||||
| chr2:189834527 | T | C | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-9437T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834527 | |||||||
| chr2:189834528 | C | T | 1 | a0001c0001t0002g0039 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.583-9436C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834528 | |||||||
| chr2:189834867 | A | G | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-9097A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834867 | |||||||
| chr2:189834938 | C | T | 1 | a0001c0001t0001g0196 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.583-9026C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189834938 | |||||||
| chr2:189835049 | T | C | 1 | a0001c0001t0002g0089 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.583-8915T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835049 | |||||||
| chr2:189835232 | T | A | 149 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(146): Show |
154 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.583-8732T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835232 | |||||||
| chr2:189835530 | T | G | 1 | a0001c0001t0002g0056 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.583-8434T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835530 | |||||||
| chr2:189835768 | G | A | 134 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(131): Show |
138 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(135): Show |
intron_variant | MODIFIER | c.583-8196G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835768 | |||||||
| chr2:189835898 | G | GCCTGGGT others(13): Show |
6 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG03130.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-8062_583-8061i others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835898 | ||||||
| chr2:189835902 | G | GGGTGACA others(11): Show |
1 | a0002c0004t0001g0224 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8062_583-8061i others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835902 | |||||||
| chr2:189835904 | C | G | 1 | a0002c0004t0001g0224 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8060C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835904 | |||||||
| chr2:189835906 | C | CA | 10 | a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0146 others(7): Show |
10 | HG00733.hp1 HG01257.hp1 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.583-8036dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | ||||||
| chr2:189835906 | C | CAA | 27 | a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0134 others(24): Show |
27 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(24): Show |
intron_variant | MODIFIER | c.583-8037_583-8036d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | ||||||
| chr2:189835906 | C | CAAA | 20 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(17): Show |
21 | HG01891.hp1 HG02165.hp2 HG02280.hp2 others(18): Show |
intron_variant | MODIFIER | c.583-8038_583-8036d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | ||||||
| chr2:189835906 | C | CAAAA | 6 | a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0002g0037 others(3): Show |
6 | HG02109.hp2 HG02886.hp1 HG03098.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-8039_583-8036d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | ||||||
| chr2:189835906 | CA | C | 54 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0140 others(51): Show |
57 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(54): Show |
intron_variant | MODIFIER | c.583-8036delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | ||||||
| chr2:189835906 | CAA | C | 10 | a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 others(7): Show |
10 | HG01257.hp2 HG01258.hp2 HG01261.hp2 others(7): Show |
intron_variant | MODIFIER | c.583-8037_583-8036d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835906 | ||||||
| chr2:189835907 | A | T | 1 | a0002c0004t0001g0224 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8057A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835907 | |||||||
| chr2:189835908 | A | C | 1 | a0002c0004t0001g0224 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.583-8056A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189835908 | |||||||
| chr2:189835956 | G | GA | 9 | a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0003g0207 others(6): Show |
9 | HG01255.hp1 HG02895.hp2 HG02897.hp1 others(6): Show |
intron_variant | MODIFIER | c.583-7997dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835956 | ||||||
| chr2:189835956 | GA | G | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-7997delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189835956 | ||||||
| chr2:189836106 | A | G | 3 | a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0124 |
3 | HG02630.hp1 HG02886.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.583-7858A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836106 | |||||||
| chr2:189836222 | C | T | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-7742C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836222 | |||||||
| chr2:189836223 | G | A | 1 | a0001c0001t0001g0020 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.583-7741G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836223 | |||||||
| chr2:189836382 | T | C | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-7582T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836382 | |||||||
| chr2:189836677 | C | T | 5 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0223 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.583-7287C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836677 | |||||||
| chr2:189836851 | A | G | 1 | a0001c0001t0002g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.583-7113A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836851 | |||||||
| chr2:189836941 | G | A | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-7023G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836941 | |||||||
| chr2:189836965 | T | G | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-6999T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189836965 | |||||||
| chr2:189837143 | C | T | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-6821C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837143 | |||||||
| chr2:189837146 | T | C | 51 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(48): Show |
52 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show |
intron_variant | MODIFIER | c.583-6818T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837146 | |||||||
| chr2:189837164 | G | GT | 51 | a0001c0001t0001g0029 a0001c0001t0001g0133 a0001c0001t0001g0160 others(48): Show |
54 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.583-6787dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189837164 | ||||||
| chr2:189837298 | T | A | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-6666T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837298 | |||||||
| chr2:189837373 | C | T | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.583-6591C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837373 | |||||||
| chr2:189837434 | T | C | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-6530T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837434 | |||||||
| chr2:189837875 | T | C | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.583-6089T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837875 | |||||||
| chr2:189837969 | A | G | 1 | a0001c0001t0001g0008 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.583-5995A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189837969 | |||||||
| chr2:189838348 | T | C | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG01261.hp1 HG02109.hp1 HG02135.hp2 others(15): Show |
intron_variant | MODIFIER | c.583-5616T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838348 | |||||||
| chr2:189838623 | G | A | 13 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(10): Show |
13 | HG02109.hp2 HG03098.hp1 HG03225.hp1 others(10): Show |
intron_variant | MODIFIER | c.583-5341G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838623 | |||||||
| chr2:189838711 | T | A | 3 | a0001c0001t0004g0131 a0001c0001t0007g0212 a0001c0001t0008g0042 |
3 | HG02717.hp1 HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.583-5253T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838711 | |||||||
| chr2:189838809 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.583-5155C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189838809 | |||||||
| chr2:189838989 | C | CT | 50 | a0001c0001t0001g0029 a0001c0001t0001g0160 a0001c0001t0002g0003 others(47): Show |
53 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.583-4965dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189838989 | ||||||
| chr2:189839037 | A | G | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-4927A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839037 | |||||||
| chr2:189839078 | A | G | 1 | a0001c0001t0002g0004 | 2 | NA18953.hp1 NA19086.hp2 |
intron_variant | MODIFIER | c.583-4886A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839078 | |||||||
| chr2:189839424 | T | A | 1 | a0001c0001t0002g0084 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.583-4540T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839424 | |||||||
| chr2:189839457 | C | T | 23 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(20): Show |
23 | HG01069.hp1 HG01261.hp1 HG02055.hp1 others(20): Show |
intron_variant | MODIFIER | c.583-4507C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839457 | |||||||
| chr2:189839694 | A | G | 51 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(48): Show |
52 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show |
intron_variant | MODIFIER | c.583-4270A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839694 | |||||||
| chr2:189839720 | T | G | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.583-4244T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839720 | |||||||
| chr2:189839733 | T | C | 2 | a0001c0001t0001g0133 a0001c0001t0001g0202 |
2 | HG02615.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.583-4231T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839733 | |||||||
| chr2:189839802 | A | G | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-4162A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189839802 | |||||||
| chr2:189840175 | C | T | 2 | a0001c0001t0001g0118 a0001c0001t0001g0119 |
2 | HG01261.hp1 HG02109.hp1 |
intron_variant | MODIFIER | c.583-3789C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840175 | |||||||
| chr2:189840237 | A | G | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.583-3727A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840237 | |||||||
| chr2:189840556 | A | T | 1 | a0001c0001t0002g0098 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.583-3408A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840556 | |||||||
| chr2:189840626 | G | T | 1 | a0001c0001t0007g0212 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.583-3338G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840626 | |||||||
| chr2:189840789 | T | A | 1 | a0001c0001t0001g0145 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.583-3175T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840789 | |||||||
| chr2:189840805 | T | A | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-3159T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840805 | |||||||
| chr2:189840945 | G | A | 1 | a0001c0001t0001g0192 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.583-3019G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189840945 | |||||||
| chr2:189841070 | CAG | C | 6 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(3): Show |
6 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(3): Show |
intron_variant | MODIFIER | c.583-2893_583-2892d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841070 | |||||||
| chr2:189841127 | G | T | 53 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0133 others(50): Show |
56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.583-2837G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841127 | |||||||
| chr2:189841242 | G | C | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-2722G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841242 | |||||||
| chr2:189841366 | A | C | 73 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(70): Show |
74 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(71): Show |
intron_variant | MODIFIER | c.583-2598A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841366 | |||||||
| chr2:189841479 | C | T | 1 | a0001c0001t0001g0138 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.583-2485C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841479 | |||||||
| chr2:189841560 | G | C | 3 | a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0063 |
3 | HG02074.hp2 HG02155.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.583-2404G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841560 | |||||||
| chr2:189841573 | T | C | 6 | a0001c0001t0003g0207 a0002c0004t0001g0224 a0002c0004t0001g0225 others(3): Show |
6 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.583-2391T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841573 | |||||||
| chr2:189841588 | A | G | 7 | a0001c0001t0001g0201 a0001c0001t0003g0207 a0002c0004t0001g0224 others(4): Show |
7 | HG02895.hp2 HG02897.hp1 HG03130.hp2 others(4): Show |
intron_variant | MODIFIER | c.583-2376A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841588 | |||||||
| chr2:189841594 | T | C | 9 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(6): Show |
9 | HG02135.hp2 HG02630.hp1 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.583-2370T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189841594 | |||||||
| chr2:189841823 | A | AATTTTAT others(81): Show |
50 | a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0021 others(47): Show |
51 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(48): Show |
intron_variant | MODIFIER | c.583-2134_583-2133i others(90): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189841823 | ||||||
| chr2:189842125 | A | C | 1 | a0001c0001t0001g0115 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.583-1839A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842125 | |||||||
| chr2:189842177 | C | T | 3 | a0001c0001t0001g0162 a0001c0001t0001g0179 a0001c0001t0002g0031 |
3 | HG00140.hp2 HG01255.hp2 HG02148.hp1 |
intron_variant | MODIFIER | c.583-1787C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842177 | |||||||
| chr2:189842245 | A | T | 28 | a0001c0001t0001g0029 a0001c0001t0001g0133 a0001c0001t0001g0168 others(25): Show |
29 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(26): Show |
intron_variant | MODIFIER | c.583-1719A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842245 | |||||||
| chr2:189842308 | T | C | 141 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0021 others(138): Show |
145 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(142): Show |
intron_variant | MODIFIER | c.583-1656T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842308 | |||||||
| chr2:189842366 | G | A | 1 | a0001c0001t0002g0039 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.583-1598G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842366 | |||||||
| chr2:189842441 | T | A | 66 | a0001c0001t0001g0029 a0001c0001t0001g0116 a0001c0001t0001g0118 others(63): Show |
69 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(66): Show |
intron_variant | MODIFIER | c.583-1523T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842441 | |||||||
| chr2:189842520 | G | A | 1 | a0001c0001t0002g0076 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.583-1444G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842520 | |||||||
| chr2:189842523 | C | G | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.583-1441C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842523 | |||||||
| chr2:189842530 | C | G | 31 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
32 | HG01891.hp1 HG02280.hp2 HG02451.hp1 others(29): Show |
intron_variant | MODIFIER | c.583-1434C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842530 | |||||||
| chr2:189842678 | A | G | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.583-1286A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842678 | |||||||
| chr2:189842962 | T | TTA | 35 | a0001c0001t0001g0137 a0001c0001t0001g0155 a0001c0001t0002g0001 others(32): Show |
37 | HG00558.hp2 HG01069.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.583-987_583-986dup others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189842962 | ||||||
| chr2:189842962 | TTATATAT others(35): Show |
T | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG02135.hp2 HG02257.hp2 HG02451.hp2 others(15): Show |
intron_variant | MODIFIER | c.583-992_583-951del others(42): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | 189842962 | ||||||
| chr2:189842979 | C | T | 4 | a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 others(1): Show |
4 | HG00733.hp1 HG01257.hp1 HG01943.hp1 others(1): Show |
intron_variant | MODIFIER | c.583-985C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842979 | |||||||
| chr2:189842992 | A | G | 1 | a0001c0001t0001g0177 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.583-972A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189842992 | |||||||
| chr2:189843012 | A | T | 5 | a0001c0001t0002g0064 a0001c0001t0004g0131 a0001c0001t0007g0212 others(2): Show |
5 | HG02717.hp1 HG02896.hp2 HG03471.hp1 others(2): Show |
intron_variant | MODIFIER | c.583-952A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843012 | |||||||
| chr2:189843260 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.583-704C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843260 | |||||||
| chr2:189843261 | G | A | 12 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(9): Show |
13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.583-703G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843261 | |||||||
| chr2:189843347 | C | T | 53 | a0001c0001t0001g0029 a0001c0001t0001g0119 a0001c0001t0001g0133 others(50): Show |
56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.583-617C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843347 | |||||||
| chr2:189843470 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.583-494C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843470 | |||||||
| chr2:189843518 | C | A | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.583-446C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843518 | |||||||
| chr2:189843542 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.583-422C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843542 | |||||||
| chr2:189843561 | G | A | 21 | a0001c0001t0001g0021 a0001c0001t0001g0141 a0001c0001t0001g0183 others(18): Show |
21 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(18): Show |
intron_variant | MODIFIER | c.583-403G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843561 | |||||||
| chr2:189843645 | A | G | 1 | a0001c0003t0001g0018 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.583-319A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843645 | |||||||
| chr2:189843769 | A | G | 1 | a0001c0001t0001g0139 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.583-195A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843769 | |||||||
| chr2:189843914 | T | C | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.583-50T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 5/12 | chr2 | 189843914 | |||||||
| chr2:189844217 | C | G | 1 | a0003c0005t0001g0226 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.699+137C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844217 | |||||||
| chr2:189844256 | C | A | 58 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0119 others(55): Show |
61 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.699+176C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844256 | |||||||
| chr2:189844290 | T | C | 13 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(10): Show |
13 | HG02615.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.699+210T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844290 | |||||||
| chr2:189844299 | A | C | 1 | a0001c0001t0002g0039 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.699+219A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844299 | |||||||
| chr2:189844345 | A | G | 4 | a0001c0001t0004g0131 a0001c0001t0007g0212 a0001c0002t0005g0012 others(1): Show |
4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.699+265A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844345 | |||||||
| chr2:189844550 | A | G | 8 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(5): Show |
9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.699+470A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844550 | |||||||
| chr2:189844643 | C | CA | 5 | a0001c0001t0001g0111 a0001c0001t0001g0157 a0001c0001t0001g0158 others(2): Show |
5 | HG00642.hp2 HG01261.hp2 NA19000.hp1 others(2): Show |
intron_variant | MODIFIER | c.699+583dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | ||||||
| chr2:189844643 | C | CAAAAA | 25 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 others(22): Show |
26 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(23): Show |
intron_variant | MODIFIER | c.699+579_699+583dup others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | ||||||
| chr2:189844643 | C | CAAAAAA | 5 | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0002g0039 others(2): Show |
5 | HG02630.hp2 HG03209.hp2 HG03516.hp2 others(2): Show |
intron_variant | MODIFIER | c.699+578_699+583dup others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | ||||||
| chr2:189844643 | CA | C | 49 | a0001c0001t0001g0008 a0001c0001t0001g0119 a0001c0001t0001g0168 others(46): Show |
52 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(49): Show |
intron_variant | MODIFIER | c.699+583delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | ||||||
| chr2:189844643 | CAA | C | 12 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(9): Show |
13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.699+582_699+583del others(2): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189844643 | ||||||
| chr2:189844667 | T | C | 1 | a0001c0001t0004g0129 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.699+587T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844667 | |||||||
| chr2:189844835 | C | A | 1 | a0005c0008t0001g0009 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.699+755C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844835 | |||||||
| chr2:189844912 | C | T | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.699+832C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844912 | |||||||
| chr2:189844986 | T | A | 4 | a0001c0003t0001g0018 a0001c0003t0001g0045 a0001c0003t0001g0046 others(1): Show |
4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.699+906T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189844986 | |||||||
| chr2:189845138 | G | A | 1 | a0003c0005t0001g0226 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.699+1058G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845138 | |||||||
| chr2:189845255 | C | T | 1 | a0001c0001t0001g0204 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.699+1175C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845255 | |||||||
| chr2:189845330 | A | C | 30 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(27): Show |
31 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(28): Show |
intron_variant | MODIFIER | c.699+1250A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845330 | |||||||
| chr2:189845901 | T | G | 3 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | HG02257.hp2 HG02970.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.699+1821T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189845901 | |||||||
| chr2:189846159 | G | A | 123 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(120): Show |
128 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(125): Show |
intron_variant | MODIFIER | c.699+2079G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846159 | |||||||
| chr2:189846164 | A | G | 8 | a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0157 others(5): Show |
8 | HG02083.hp2 HG02523.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+2084A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846164 | |||||||
| chr2:189846187 | A | G | 4 | a0001c0001t0004g0131 a0001c0001t0007g0212 a0001c0002t0005g0012 others(1): Show |
4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.699+2107A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846187 | |||||||
| chr2:189846205 | C | A | 2 | a0001c0001t0002g0088 a0001c0001t0002g0090 |
2 | NA18964.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.699+2125C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846205 | |||||||
| chr2:189846251 | C | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.699+2171C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846251 | |||||||
| chr2:189846369 | G | A | 58 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0119 others(55): Show |
61 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.699+2289G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846369 | |||||||
| chr2:189846508 | C | T | 1 | a0001c0001t0002g0097 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.699+2428C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846508 | |||||||
| chr2:189846548 | ACGTG | A | 8 | a0001c0001t0001g0144 a0001c0001t0001g0156 a0001c0001t0001g0157 others(5): Show |
8 | HG02083.hp2 HG02523.hp1 HG03834.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+2470_699+2473d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189846548 | ||||||
| chr2:189846743 | C | T | 2 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.699+2663C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846743 | |||||||
| chr2:189846851 | C | T | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.699+2771C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846851 | |||||||
| chr2:189846944 | C | T | 20 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(17): Show |
20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.699+2864C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846944 | |||||||
| chr2:189846954 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.699+2874C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189846954 | |||||||
| chr2:189847008 | C | T | 1 | a0001c0001t0001g0145 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.699+2928C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847008 | |||||||
| chr2:189847111 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.699+3031C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847111 | |||||||
| chr2:189847202 | A | C | 3 | a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0160 |
3 | HG01261.hp1 HG02615.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.699+3122A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847202 | |||||||
| chr2:189847411 | G | A | 35 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(32): Show |
36 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(33): Show |
intron_variant | MODIFIER | c.699+3331G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847411 | |||||||
| chr2:189847465 | AT | A | 58 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0119 others(55): Show |
61 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(58): Show |
intron_variant | MODIFIER | c.699+3394delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189847465 | ||||||
| chr2:189847570 | T | A | 1 | a0001c0001t0003g0221 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.699+3490T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847570 | |||||||
| chr2:189847604 | G | C | 7 | a0001c0001t0002g0003 a0001c0001t0002g0076 a0001c0001t0002g0077 others(4): Show |
8 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(5): Show |
intron_variant | MODIFIER | c.699+3524G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847604 | |||||||
| chr2:189847870 | A | C | 8 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(5): Show |
9 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.699+3790A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847870 | |||||||
| chr2:189847941 | C | G | 1 | a0001c0001t0001g0019 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.699+3861C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189847941 | |||||||
| chr2:189848005 | G | A | 1 | a0001c0001t0002g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.699+3925G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848005 | |||||||
| chr2:189848107 | G | A | 1 | a0001c0001t0001g0171 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.699+4027G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848107 | |||||||
| chr2:189848172 | T | C | 1 | a0006c0007t0001g0010 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.699+4092T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848172 | |||||||
| chr2:189848503 | T | C | 19 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(16): Show |
19 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(16): Show |
intron_variant | MODIFIER | c.700-4152T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848503 | |||||||
| chr2:189848759 | T | C | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.700-3896T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189848759 | |||||||
| chr2:189849000 | C | G | 1 | a0001c0001t0001g0026 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-3655C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849000 | |||||||
| chr2:189849242 | T | C | 52 | a0001c0001t0001g0029 a0001c0001t0001g0119 a0001c0001t0001g0160 others(49): Show |
55 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(52): Show |
intron_variant | MODIFIER | c.700-3413T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849242 | |||||||
| chr2:189849318 | A | C | 1 | a0001c0001t0001g0026 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-3337A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849318 | |||||||
| chr2:189849348 | T | A | 1 | a0001c0001t0001g0145 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.700-3307T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849348 | |||||||
| chr2:189849452 | A | G | 1 | a0001c0001t0001g0020 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.700-3203A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849452 | |||||||
| chr2:189849512 | A | G | 29 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(26): Show |
30 | HG01891.hp1 HG02148.hp2 HG02280.hp2 others(27): Show |
intron_variant | MODIFIER | c.700-3143A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849512 | |||||||
| chr2:189849519 | T | C | 59 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0119 others(56): Show |
62 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.700-3136T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849519 | |||||||
| chr2:189849545 | A | G | 9 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 others(6): Show |
9 | HG02109.hp1 HG02257.hp2 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.700-3110A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849545 | |||||||
| chr2:189849867 | C | CT | 36 | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0111 others(33): Show |
37 | HG01891.hp1 HG02109.hp1 HG02135.hp2 others(34): Show |
intron_variant | MODIFIER | c.700-2769dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189849867 | ||||||
| chr2:189849867 | C | CTT | 31 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
31 | HG01069.hp1 HG02055.hp1 HG02109.hp2 others(28): Show |
intron_variant | MODIFIER | c.700-2770_700-2769d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189849867 | ||||||
| chr2:189849867 | C | CTTT | 64 | a0001c0001t0001g0008 a0001c0001t0001g0029 a0001c0001t0001g0119 others(61): Show |
68 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.700-2771_700-2769d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189849867 | ||||||
| chr2:189849895 | G | A | 29 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(26): Show |
30 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(27): Show |
intron_variant | MODIFIER | c.700-2760G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189849895 | |||||||
| chr2:189850383 | A | C | 2 | a0001c0001t0001g0135 a0001c0001t0001g0151 |
2 | NA18983.hp1 NA19003.hp2 |
intron_variant | MODIFIER | c.700-2272A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850383 | |||||||
| chr2:189850403 | A | G | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.700-2252A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850403 | |||||||
| chr2:189850750 | C | G | 1 | a0001c0001t0001g0026 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-1905C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850750 | |||||||
| chr2:189850789 | G | A | 8 | a0001c0001t0002g0003 a0001c0001t0002g0076 a0001c0001t0002g0077 others(5): Show |
9 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(6): Show |
intron_variant | MODIFIER | c.700-1866G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850789 | |||||||
| chr2:189850874 | C | T | 1 | a0001c0001t0002g0051 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.700-1781C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850874 | |||||||
| chr2:189850883 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.700-1772C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850883 | |||||||
| chr2:189850986 | G | C | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.700-1669G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850986 | |||||||
| chr2:189850994 | G | A | 1 | a0001c0002t0005g0012 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.700-1661G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189850994 | |||||||
| chr2:189851403 | A | G | 1 | a0001c0001t0001g0008 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.700-1252A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851403 | |||||||
| chr2:189851421 | T | C | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.700-1234T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851421 | |||||||
| chr2:189851456 | T | G | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.700-1199T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851456 | |||||||
| chr2:189851517 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.700-1138C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851517 | |||||||
| chr2:189851535 | A | G | 1 | a0001c0001t0001g0176 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.700-1120A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851535 | |||||||
| chr2:189851576 | A | G | 1 | a0001c0002t0001g0013 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.700-1079A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851576 | |||||||
| chr2:189851793 | A | G | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.700-862A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851793 | |||||||
| chr2:189851837 | C | CTGGG | 53 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0119 others(50): Show |
56 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.700-817_700-814dup others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | 189851837 | ||||||
| chr2:189851857 | A | G | 1 | a0001c0001t0001g0124 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.700-798A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851857 | |||||||
| chr2:189851874 | A | G | 1 | a0001c0001t0001g0182 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.700-781A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851874 | |||||||
| chr2:189851893 | G | A | 1 | a0001c0001t0001g0026 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.700-762G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851893 | |||||||
| chr2:189851911 | C | G | 1 | a0001c0001t0001g0184 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.700-744C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851911 | |||||||
| chr2:189851999 | C | G | 1 | a0001c0001t0001g0204 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.700-656C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189851999 | |||||||
| chr2:189852121 | G | T | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.700-534G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852121 | |||||||
| chr2:189852207 | C | T | 2 | a0001c0001t0001g0029 a0001c0001t0002g0102 |
2 | NA18951.hp1 NA18951.hp2 |
intron_variant | MODIFIER | c.700-448C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852207 | |||||||
| chr2:189852442 | C | G | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.700-213C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852442 | |||||||
| chr2:189852606 | C | T | 1 | a0001c0001t0004g0065 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.700-49C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852606 | |||||||
| chr2:189852609 | G | A | 4 | a0001c0001t0004g0131 a0001c0001t0007g0212 a0001c0002t0005g0012 others(1): Show |
4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.700-46G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852609 | |||||||
| chr2:189852632 | C | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.700-23C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 6/12 | chr2 | 189852632 | |||||||
| chr2:189852891 | A | G | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.822+114A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189852891 | |||||||
| chr2:189852902 | T | C | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.822+125T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189852902 | |||||||
| chr2:189853103 | A | G | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.822+326A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853103 | |||||||
| chr2:189853141 | T | C | 125 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(122): Show |
130 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(127): Show |
intron_variant | MODIFIER | c.822+364T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853141 | |||||||
| chr2:189853148 | G | A | 1 | a0001c0001t0001g0172 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.822+371G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853148 | |||||||
| chr2:189853217 | C | T | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.822+440C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853217 | |||||||
| chr2:189853220 | A | T | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.822+443A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853220 | |||||||
| chr2:189853282 | C | T | 1 | a0001c0001t0001g0154 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.822+505C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853282 | |||||||
| chr2:189853499 | GCTTTT | G | 4 | a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0002g0039 others(1): Show |
4 | HG02896.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
intron_variant | MODIFIER | c.823-419_823-415del others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | 189853499 | ||||||
| chr2:189853510 | C | A | 1 | a0001c0001t0001g0127 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.823-429C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853510 | |||||||
| chr2:189853520 | C | CT | 83 | a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0029 others(80): Show |
88 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.823-406dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr2 | 189853520 | ||||||
| chr2:189853520 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.823-419C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853520 | |||||||
| chr2:189853650 | G | A | 1 | a0001c0001t0001g0008 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.823-289G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853650 | |||||||
| chr2:189853690 | A | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.823-249A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853690 | |||||||
| chr2:189853763 | C | T | 1 | a0001c0001t0001g0181 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.823-176C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853763 | |||||||
| chr2:189853869 | A | C | 2 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | HG01123.hp2 HG02602.hp2 |
intron_variant | MODIFIER | c.823-70A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 7/12 | chr2 | 189853869 | |||||||
| chr2:189854119 | A | G | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.966+37A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 8/12 | chr2 | 189854119 | |||||||
| chr2:189854190 | T | C | 2 | a0001c0001t0003g0218 a0001c0001t0003g0222 |
2 | HG03041.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.967-49T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 8/12 | chr2 | 189854190 | |||||||
| chr2:189854197 | T | G | 2 | a0001c0001t0002g0088 a0001c0001t0002g0090 |
2 | NA18964.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.967-42T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 8/12 | chr2 | 189854197 | |||||||
| chr2:189855198 | A | G | 1 | a0001c0001t0001g0008 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1856+70A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855198 | |||||||
| chr2:189855317 | C | G | 1 | a0001c0001t0001g0008 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1856+189C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855317 | |||||||
| chr2:189855336 | GT | G | 112 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(109): Show |
117 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(114): Show |
intron_variant | MODIFIER | c.1856+218delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189855336 | ||||||
| chr2:189855485 | T | C | 1 | a0001c0001t0001g0028 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1856+357T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855485 | |||||||
| chr2:189855510 | G | A | 1 | a0001c0001t0002g0031 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1856+382G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855510 | |||||||
| chr2:189855702 | G | C | 1 | a0001c0001t0004g0066 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.1856+574G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855702 | |||||||
| chr2:189855829 | G | A | 1 | a0001c0001t0001g0181 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1856+701G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855829 | |||||||
| chr2:189855874 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1856+746C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189855874 | |||||||
| chr2:189856022 | AT | A | 9 | a0001c0001t0001g0147 a0001c0001t0002g0003 a0001c0001t0002g0076 others(6): Show |
10 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(7): Show |
intron_variant | MODIFIER | c.1856+904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189856022 | ||||||
| chr2:189856154 | C | CT | 16 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(13): Show |
17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.1856+1039dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189856154 | ||||||
| chr2:189856167 | T | A | 1 | a0001c0001t0002g0097 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1856+1039T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856167 | |||||||
| chr2:189856222 | A | G | 1 | a0001c0001t0001g0133 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1856+1094A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856222 | |||||||
| chr2:189856699 | T | C | 12 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(9): Show |
13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1856+1571T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856699 | |||||||
| chr2:189856951 | T | C | 8 | a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 others(5): Show |
8 | HG02109.hp1 HG02257.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.1856+1823T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856951 | |||||||
| chr2:189856970 | A | G | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1856+1842A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189856970 | |||||||
| chr2:189857115 | A | G | 1 | a0001c0001t0001g0019 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1856+1987A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857115 | |||||||
| chr2:189857186 | A | G | 1 | a0001c0001t0002g0090 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1856+2058A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857186 | |||||||
| chr2:189857198 | T | C | 1 | a0001c0001t0001g0115 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1856+2070T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857198 | |||||||
| chr2:189857207 | G | A | 1 | a0001c0001t0001g0173 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1856+2079G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857207 | |||||||
| chr2:189857344 | C | T | 1 | a0001c0001t0002g0110 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1856+2216C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857344 | |||||||
| chr2:189857444 | G | A | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(16): Show |
intron_variant | MODIFIER | c.1856+2316G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857444 | |||||||
| chr2:189857531 | G | T | 2 | a0001c0001t0001g0202 a0001c0001t0002g0110 |
2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1856+2403G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857531 | |||||||
| chr2:189857532 | C | A | 2 | a0001c0001t0001g0202 a0001c0001t0002g0110 |
2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1856+2404C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857532 | |||||||
| chr2:189857617 | T | C | 124 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(121): Show |
129 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.1856+2489T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857617 | |||||||
| chr2:189857618 | C | T | 19 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(16): Show |
19 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(16): Show |
intron_variant | MODIFIER | c.1856+2490C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857618 | |||||||
| chr2:189857619 | C | T | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1856+2491C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857619 | |||||||
| chr2:189857928 | G | C | 1 | a0001c0001t0001g0196 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.1856+2800G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189857928 | |||||||
| chr2:189858046 | G | T | 1 | a0001c0001t0001g0172 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1856+2918G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189858046 | |||||||
| chr2:189858490 | A | G | 1 | a0001c0001t0002g0039 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1856+3362A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189858490 | |||||||
| chr2:189858937 | T | C | 1 | a0001c0001t0002g0051 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.1856+3809T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189858937 | |||||||
| chr2:189859247 | C | G | 1 | a0001c0001t0002g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1856+4119C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859247 | |||||||
| chr2:189859415 | T | C | 62 | a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0029 others(59): Show |
65 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.1856+4287T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859415 | |||||||
| chr2:189859723 | C | T | 1 | a0001c0001t0002g0109 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1857-4020C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859723 | |||||||
| chr2:189859748 | T | C | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3995T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859748 | |||||||
| chr2:189859794 | GT | G | 4 | a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0151 others(1): Show |
4 | NA18956.hp1 NA18983.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3948delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859794 | |||||||
| chr2:189859797 | T | C | 4 | a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0151 others(1): Show |
4 | NA18956.hp1 NA18983.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3946T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859797 | |||||||
| chr2:189859804 | T | G | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1857-3939T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859804 | |||||||
| chr2:189859831 | C | T | 62 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(59): Show |
64 | HG01069.hp1 HG01884.hp2 HG01891.hp1 others(61): Show |
intron_variant | MODIFIER | c.1857-3912C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859831 | |||||||
| chr2:189859864 | G | A | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-3879G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189859864 | |||||||
| chr2:189859880 | CTA | C | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.1857-3860_1857-385 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189859880 | ||||||
| chr2:189860324 | G | C | 12 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(9): Show |
13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.1857-3419G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860324 | |||||||
| chr2:189860347 | C | A | 1 | a0001c0001t0001g0022 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1857-3396C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860347 | |||||||
| chr2:189860456 | C | T | 5 | a0001c0001t0001g0008 a0001c0001t0004g0131 a0001c0001t0007g0212 others(2): Show |
5 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.1857-3287C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860456 | |||||||
| chr2:189860517 | T | C | 1 | a0001c0001t0001g0026 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1857-3226T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860517 | |||||||
| chr2:189860519 | A | G | 1 | a0001c0001t0001g0116 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1857-3224A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860519 | |||||||
| chr2:189860800 | A | AT | 18 | a0001c0001t0001g0011 a0001c0001t0001g0139 a0001c0001t0001g0140 others(15): Show |
18 | HG00544.hp2 HG01258.hp1 HG01261.hp2 others(15): Show |
intron_variant | MODIFIER | c.1857-2904dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | AT | A | 25 | a0001c0001t0001g0005 a0001c0001t0001g0149 a0001c0001t0001g0152 others(22): Show |
26 | HG00280.hp2 HG00642.hp1 HG01069.hp2 others(23): Show |
intron_variant | MODIFIER | c.1857-2904delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATT | A | 19 | a0001c0001t0001g0020 a0001c0001t0001g0137 a0001c0001t0001g0148 others(16): Show |
19 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(16): Show |
intron_variant | MODIFIER | c.1857-2905_1857-290 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTT | A | 7 | a0001c0001t0001g0141 a0001c0001t0002g0003 a0001c0001t0002g0076 others(4): Show |
8 | HG00733.hp2 HG01081.hp1 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.1857-2907_1857-290 others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTT | A | 8 | a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0002g0082 others(5): Show |
8 | HG00423.hp2 HG00544.hp1 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.1857-2908_1857-290 others(9): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTT | A | 24 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0119 others(21): Show |
25 | HG00597.hp2 HG01258.hp2 HG01261.hp1 others(22): Show |
intron_variant | MODIFIER | c.1857-2909_1857-290 others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT | A | 14 | a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0002g0089 others(11): Show |
14 | HG01069.hp1 HG01257.hp2 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.1857-2910_1857-290 others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(1): Show |
A | 20 | a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0116 others(17): Show |
21 | HG02135.hp2 HG02257.hp2 HG02486.hp2 others(18): Show |
intron_variant | MODIFIER | c.1857-2911_1857-290 others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(2): Show |
A | 25 | a0001c0001t0001g0008 a0001c0001t0001g0023 a0001c0001t0001g0115 others(22): Show |
26 | HG01884.hp2 HG01891.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.1857-2912_1857-290 others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(3): Show |
A | 1 | a0001c0001t0003g0214 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1857-2913_1857-290 others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(4): Show |
A | 1 | a0001c0001t0002g0040 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1857-2914_1857-290 others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(7): Show |
A | 1 | a0001c0001t0002g0039 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1857-2917_1857-290 others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(8): Show |
A | 3 | a0001c0001t0001g0025 a0001c0001t0002g0043 a0001c0001t0002g0044 |
3 | HG02615.hp2 HG03540.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.1857-2918_1857-290 others(19): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(9): Show |
A | 1 | a0001c0001t0001g0021 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.1857-2919_1857-290 others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(13): Show |
A | 2 | a0001c0001t0001g0196 a0009c0010t0001g0007 |
2 | HG03486.hp1 HG03942.hp1 |
intron_variant | MODIFIER | c.1857-2923_1857-290 others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(15): Show |
A | 1 | a0001c0003t0001g0045 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.1857-2925_1857-290 others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860800 | ATTTTTTT others(16): Show |
A | 3 | a0001c0003t0001g0018 a0001c0003t0001g0046 a0001c0003t0001g0048 |
3 | HG02280.hp1 HG02559.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1857-2926_1857-290 others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189860800 | ||||||
| chr2:189860837 | T | G | 9 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(6): Show |
9 | HG02615.hp2 HG02622.hp1 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.1857-2906T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860837 | |||||||
| chr2:189860838 | T | A | 10 | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 others(7): Show |
10 | HG02615.hp2 HG02622.hp1 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.1857-2905T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860838 | |||||||
| chr2:189860839 | T | G | 10 | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0001t0001g0020 others(7): Show |
10 | HG02615.hp2 HG02622.hp1 HG02735.hp1 others(7): Show |
intron_variant | MODIFIER | c.1857-2904T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860839 | T | TTTTTTTT others(3): Show |
4 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 others(1): Show |
4 | HG01891.hp1 HG02280.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1857-2904_1857-290 others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860839 | T | TTTTTTTT others(6): Show |
1 | a0003c0005t0001g0223 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(17): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860839 | T | TTTTTTTT others(4): Show |
1 | a0001c0001t0002g0001 | 2 | NA20129.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.1857-2904_1857-290 others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860839 | T | TTTTTTTT others(9): Show |
1 | a0001c0001t0001g0165 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860839 | T | TTTTTTTT others(10): Show |
1 | a0001c0001t0001g0022 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860839 | T | TTTTTTTT others(11): Show |
3 | a0001c0001t0001g0028 a0001c0001t0001g0126 a0008c0006t0001g0228 |
3 | HG03139.hp1 HG03831.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.1857-2904_1857-290 others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860839 | T | TTTTTTTT others(19): Show |
1 | a0001c0001t0001g0030 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.1857-2904_1857-290 others(30): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860839 | |||||||
| chr2:189860966 | T | C | 26 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(23): Show |
27 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(24): Show |
intron_variant | MODIFIER | c.1857-2777T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189860966 | |||||||
| chr2:189861120 | A | G | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.1857-2623A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861120 | |||||||
| chr2:189861283 | C | A | 4 | a0001c0001t0004g0131 a0001c0001t0007g0212 a0001c0002t0005g0012 others(1): Show |
4 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.1857-2460C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861283 | |||||||
| chr2:189861400 | CT | C | 115 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(112): Show |
119 | HG00423.hp2 HG00544.hp1 HG00558.hp1 others(116): Show |
intron_variant | MODIFIER | c.1857-2328delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861400 | ||||||
| chr2:189861400 | CTT | C | 13 | a0001c0001t0002g0078 a0001c0001t0003g0006 a0001c0001t0003g0208 others(10): Show |
14 | HG01884.hp2 HG01891.hp2 HG02004.hp1 others(11): Show |
intron_variant | MODIFIER | c.1857-2329_1857-232 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861400 | ||||||
| chr2:189861415 | T | C | 13 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(10): Show |
13 | HG02615.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.1857-2328T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861415 | |||||||
| chr2:189861497 | C | T | 2 | a0001c0001t0004g0073 a0001c0001t0007g0213 |
2 | HG02647.hp2 HG03041.hp1 |
intron_variant | MODIFIER | c.1857-2246C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861497 | |||||||
| chr2:189861508 | G | C | 1 | a0001c0001t0001g0184 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1857-2235G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861508 | |||||||
| chr2:189861663 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0001g0160 |
2 | HG01261.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.1857-2080C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861663 | |||||||
| chr2:189861747 | CA | C | 109 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(106): Show |
113 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(110): Show |
intron_variant | MODIFIER | c.1857-1981delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861747 | ||||||
| chr2:189861817 | G | A | 1 | a0001c0001t0001g0201 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1857-1926G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189861817 | |||||||
| chr2:189861841 | TC | T | 20 | a0001c0001t0001g0021 a0001c0001t0001g0137 a0001c0001t0001g0141 others(17): Show |
20 | HG00099.hp2 HG00280.hp1 HG00558.hp2 others(17): Show |
intron_variant | MODIFIER | c.1857-1900delC | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189861841 | ||||||
| chr2:189862345 | A | G | 7 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show |
7 | HG03491.hp1 HG03710.hp1 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.1857-1398A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862345 | |||||||
| chr2:189862358 | G | T | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.1857-1385G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862358 | |||||||
| chr2:189862389 | T | C | 16 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(13): Show |
17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.1857-1354T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862389 | |||||||
| chr2:189862805 | C | T | 124 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(121): Show |
129 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.1857-938C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189862805 | |||||||
| chr2:189863247 | G | GT | 8 | a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 others(5): Show |
8 | HG00733.hp1 HG01257.hp1 HG01943.hp1 others(5): Show |
intron_variant | MODIFIER | c.1857-487dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189863247 | ||||||
| chr2:189863249 | T | G | 1 | a0001c0001t0002g0106 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.1857-494T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863249 | |||||||
| chr2:189863258 | G | GT | 5 | a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0162 others(2): Show |
5 | HG01255.hp2 HG02148.hp1 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.1857-472dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | 189863258 | ||||||
| chr2:189863293 | G | A | 8 | a0001c0001t0002g0003 a0001c0001t0002g0076 a0001c0001t0002g0077 others(5): Show |
9 | HG00733.hp2 HG01346.hp1 HG01928.hp2 others(6): Show |
intron_variant | MODIFIER | c.1857-450G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863293 | |||||||
| chr2:189863326 | T | C | 7 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(4): Show |
8 | HG01891.hp1 HG02280.hp2 HG02717.hp2 others(5): Show |
intron_variant | MODIFIER | c.1857-417T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863326 | |||||||
| chr2:189863368 | C | T | 1 | a0001c0001t0001g0190 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1857-375C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863368 | |||||||
| chr2:189863407 | A | G | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.1857-336A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | chr2 | 189863407 | |||||||
| chr2:189864273 | A | G | 2 | a0001c0001t0002g0084 a0001c0001t0002g0085 |
2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.2342+45A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864273 | |||||||
| chr2:189864380 | G | A | 3 | a0001c0001t0001g0005 a0001c0001t0001g0132 a0001c0001t0001g0148 |
4 | HG00099.hp1 HG00280.hp2 HG01123.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+152G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864380 | |||||||
| chr2:189864512 | C | T | 7 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(4): Show |
7 | HG03491.hp1 HG03710.hp1 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.2342+284C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864512 | |||||||
| chr2:189864513 | G | A | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2342+285G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864513 | |||||||
| chr2:189864603 | C | G | 20 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(17): Show |
20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2342+375C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864603 | |||||||
| chr2:189864657 | G | GAAAAAAA others(3): Show |
1 | a0001c0001t0001g0171 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.2342+451_2342+460d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(4): Show |
1 | a0001c0001t0001g0184 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2342+450_2342+460d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(5): Show |
1 | a0001c0001t0001g0136 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2342+449_2342+460d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(6): Show |
1 | a0001c0001t0001g0145 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.2342+448_2342+460d others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(7): Show |
2 | a0001c0001t0001g0155 a0001c0001t0001g0192 |
2 | NA18959.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.2342+447_2342+460d others(16): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(8): Show |
3 | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0203 |
3 | HG00642.hp1 HG01069.hp2 HG01255.hp1 |
intron_variant | MODIFIER | c.2342+446_2342+460d others(17): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(9): Show |
1 | a0001c0001t0001g0164 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.2342+445_2342+460d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(10): Show |
1 | a0001c0001t0001g0163 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2342+444_2342+460d others(19): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(11): Show |
2 | a0001c0001t0001g0152 a0001c0001t0001g0167 |
2 | HG01496.hp1 NA18956.hp1 |
intron_variant | MODIFIER | c.2342+443_2342+460d others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(12): Show |
1 | a0001c0001t0001g0138 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.2342+442_2342+460d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(15): Show |
1 | a0001c0001t0002g0093 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2342+439_2342+460d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(18): Show |
1 | a0001c0001t0001g0174 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2342+436_2342+460d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(20): Show |
1 | a0001c0001t0001g0198 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2342+434_2342+460d others(29): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(27): Show |
1 | a0001c0001t0001g0153 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.2342+460_2342+461i others(36): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(32): Show |
1 | a0001c0001t0001g0185 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(41): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | G | GAAAAAAA others(33): Show |
1 | a0001c0001t0001g0135 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(42): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864657 | GAAAAAAA others(4): Show |
G | 1 | a0001c0001t0001g0195 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.2342+450_2342+460d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864657 | ||||||
| chr2:189864675 | AAAAAAAA others(29): Show |
A | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2342+449_2342+484d others(38): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864675 | ||||||
| chr2:189864679 | A | T | 1 | a0001c0001t0001g0176 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2342+451A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864679 | |||||||
| chr2:189864679 | AAAAAAAA others(17): Show |
A | 1 | a0001c0001t0003g0210 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2342+453_2342+476d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864679 | ||||||
| chr2:189864680 | AAAAAAAA others(16): Show |
A | 1 | a0001c0001t0001g0201 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2342+454_2342+476d others(25): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864680 | ||||||
| chr2:189864681 | A | T | 1 | a0001c0001t0001g0176 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2342+453A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864681 | |||||||
| chr2:189864681 | AAAAAAAA others(3): Show |
A | 1 | a0001c0001t0001g0200 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.2342+455_2342+464d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864681 | ||||||
| chr2:189864681 | AAAAAAAA others(17): Show |
A | 6 | a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 others(3): Show |
6 | HG01891.hp2 HG02922.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.2342+455_2342+478d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864681 | ||||||
| chr2:189864682 | AAAAAAAT others(12): Show |
A | 1 | a0001c0001t0001g0160 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2342+456_2342+474d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864682 | ||||||
| chr2:189864683 | A | T | 2 | a0001c0001t0001g0176 a0001c0001t0001g0195 |
2 | HG02602.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.2342+455A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864683 | |||||||
| chr2:189864683 | AAAAAATA others(5): Show |
A | 1 | a0001c0001t0001g0172 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.2342+457_2342+468d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | ||||||
| chr2:189864683 | AAAAAATA others(15): Show |
A | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2342+457_2342+478d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | ||||||
| chr2:189864683 | AAAAAATA others(17): Show |
A | 2 | a0001c0001t0003g0006 a0001c0001t0003g0214 |
3 | HG01884.hp2 HG02895.hp1 HG03130.hp1 |
intron_variant | MODIFIER | c.2342+457_2342+480d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | ||||||
| chr2:189864683 | AAAAAATA others(19): Show |
A | 2 | a0001c0001t0002g0080 a0001c0001t0002g0109 |
2 | HG02622.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2342+457_2342+482d others(28): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864683 | ||||||
| chr2:189864684 | AAAAATAT others(16): Show |
A | 1 | a0001c0001t0003g0219 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2342+458_2342+480d others(25): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | ||||||
| chr2:189864684 | AAAAATAT others(18): Show |
A | 3 | a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0097 |
3 | HG00597.hp2 HG02523.hp2 NA18969.hp1 |
intron_variant | MODIFIER | c.2342+458_2342+482d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | ||||||
| chr2:189864684 | AAAAATAT others(20): Show |
A | 4 | a0001c0001t0002g0095 a0001c0001t0004g0002 a0001c0001t0004g0073 others(1): Show |
4 | HG01257.hp2 HG02922.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+458_2342+484d others(29): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | ||||||
| chr2:189864684 | AAAAATAT others(24): Show |
A | 1 | a0001c0001t0002g0091 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2342+458_2342+488d others(33): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864684 | ||||||
| chr2:189864685 | A | T | 3 | a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0195 |
3 | HG02083.hp2 HG02602.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.2342+457A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864685 | |||||||
| chr2:189864685 | AAAATATA others(5): Show |
A | 1 | a0001c0001t0001g0134 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2342+459_2342+470d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | ||||||
| chr2:189864685 | AAAATATA others(9): Show |
A | 1 | a0001c0001t0002g0044 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2342+459_2342+474d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | ||||||
| chr2:189864685 | AAAATATA others(11): Show |
A | 1 | a0001c0001t0002g0043 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2342+459_2342+476d others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | ||||||
| chr2:189864685 | AAAATATA others(13): Show |
A | 2 | a0001c0001t0002g0110 a0001c0002t0005g0015 |
2 | HG03579.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2342+459_2342+478d others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | ||||||
| chr2:189864685 | AAAATATA others(15): Show |
A | 1 | a0001c0001t0003g0208 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2342+459_2342+480d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | ||||||
| chr2:189864685 | AAAATATA others(17): Show |
A | 4 | a0001c0001t0001g0168 a0001c0001t0002g0003 a0001c0001t0002g0083 others(1): Show |
4 | HG02109.hp2 HG02148.hp2 HG02165.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+459_2342+482d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | ||||||
| chr2:189864685 | AAAATATA others(19): Show |
A | 23 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0076 others(20): Show |
23 | HG00733.hp2 HG01258.hp2 HG01346.hp1 others(20): Show |
intron_variant | MODIFIER | c.2342+459_2342+484d others(28): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864685 | ||||||
| chr2:189864686 | AAATATAT others(4): Show |
A | 3 | a0001c0001t0001g0025 a0001c0003t0001g0018 a0001c0003t0001g0048 |
3 | HG02280.hp1 HG02559.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.2342+460_2342+470d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864686 | ||||||
| chr2:189864686 | AAATATAT others(14): Show |
A | 5 | a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0002g0079 others(2): Show |
5 | HG01069.hp1 HG01261.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.2342+460_2342+480d others(23): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864686 | ||||||
| chr2:189864686 | AAATATAT others(18): Show |
A | 12 | a0001c0001t0002g0004 a0001c0001t0002g0077 a0001c0001t0002g0081 others(9): Show |
12 | HG00544.hp1 HG01928.hp2 HG03516.hp1 others(9): Show |
intron_variant | MODIFIER | c.2342+460_2342+484d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864686 | ||||||
| chr2:189864687 | A | AAAAAAAA others(24): Show |
1 | a0001c0001t0001g0173 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(33): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | A | AAAAAAAA others(28): Show |
1 | a0001c0001t0001g0180 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(37): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | A | AAAAAAAA others(13): Show |
1 | a0001c0001t0001g0206 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.2342+460_2342+461i others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | A | AAAAAAAA others(13): Show |
1 | a0001c0001t0001g0011 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2342+460_2342+461i others(22): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | A | AAAAAAAA others(6): Show |
1 | a0001c0001t0001g0127 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | A | AAAATATA others(5): Show |
1 | a0001c0001t0002g0128 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2342+460_2342+461i others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | A | T | 4 | a0001c0001t0001g0144 a0001c0001t0001g0176 a0001c0001t0001g0195 others(1): Show |
4 | HG02083.hp2 HG02602.hp1 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.2342+459A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864687 | |||||||
| chr2:189864687 | AAT | A | 7 | a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0150 others(4): Show |
7 | HG00140.hp1 HG00423.hp1 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.2342+506_2342+507d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATAT | A | 6 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0123 others(3): Show |
6 | HG00280.hp1 HG02630.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2342+504_2342+507d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATAT | A | 7 | a0001c0001t0001g0115 a0001c0001t0001g0141 a0001c0001t0001g0151 others(4): Show |
7 | HG01081.hp1 HG01255.hp2 HG02148.hp1 others(4): Show |
intron_variant | MODIFIER | c.2342+502_2342+507d others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATATA others(3): Show |
A | 6 | a0001c0001t0001g0024 a0001c0001t0001g0120 a0001c0001t0001g0126 others(3): Show |
6 | HG02896.hp2 HG02976.hp1 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.2342+498_2342+507d others(12): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATATA others(5): Show |
A | 3 | a0001c0001t0001g0020 a0001c0001t0002g0038 a0001c0001t0002g0041 |
3 | HG02280.hp2 HG02717.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.2342+496_2342+507d others(14): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATATA others(7): Show |
A | 4 | a0001c0001t0002g0001 a0001c0001t0002g0036 a0001c0001t0002g0040 others(1): Show |
5 | HG01891.hp1 HG02630.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.2342+494_2342+507d others(16): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATATA others(9): Show |
A | 3 | a0001c0001t0001g0121 a0001c0001t0001g0177 a0001c0001t0002g0058 |
3 | HG02074.hp1 HG02074.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2342+492_2342+507d others(18): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATATA others(11): Show |
A | 2 | a0001c0001t0001g0026 a0001c0001t0001g0191 |
2 | HG02055.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.2342+490_2342+507d others(20): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATATA others(15): Show |
A | 2 | a0001c0001t0002g0037 a0001c0001t0004g0131 |
2 | HG02886.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2342+486_2342+507d others(24): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864687 | AATATATA others(17): Show |
A | 3 | a0001c0001t0001g0008 a0001c0001t0002g0090 a0002c0004t0001g0225 |
3 | HG02895.hp2 NA19043.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.2342+484_2342+507d others(26): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189864687 | ||||||
| chr2:189864688 | AT | A | 7 | a0001c0001t0001g0021 a0001c0001t0001g0158 a0001c0001t0001g0189 others(4): Show |
7 | HG02155.hp2 HG03710.hp2 NA18522.hp1 others(4): Show |
intron_variant | MODIFIER | c.2342+461delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATAT | A | 2 | a0001c0001t0002g0049 a0005c0008t0001g0009 |
2 | HG00099.hp2 HG01884.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+463d others(5): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT | A | 2 | a0001c0001t0001g0190 a0001c0001t0002g0057 |
2 | HG02155.hp1 NA18948.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+467d others(9): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT others(2): Show |
A | 3 | a0001c0001t0001g0030 a0001c0001t0002g0033 a0001c0001t0002g0062 |
3 | NA18962.hp1 NA18988.hp2 NA19079.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+469d others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT others(4): Show |
A | 3 | a0001c0001t0001g0022 a0001c0001t0002g0032 a0001c0001t0002g0034 |
3 | HG00558.hp2 HG02165.hp2 HG03710.hp1 |
intron_variant | MODIFIER | c.2342+461_2342+471d others(13): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT others(6): Show |
A | 2 | a0001c0001t0008g0042 a0001c0003t0001g0045 |
2 | HG01081.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.2342+461_2342+473d others(15): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT others(8): Show |
A | 3 | a0001c0001t0001g0122 a0001c0001t0001g0148 a0001c0001t0002g0055 |
3 | HG00099.hp1 HG01123.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.2342+461_2342+475d others(17): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT others(12): Show |
A | 3 | a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0017 |
3 | HG02055.hp1 HG03225.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2342+461_2342+479d others(21): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT others(16): Show |
A | 4 | a0001c0001t0002g0047 a0001c0001t0002g0053 a0001c0001t0002g0088 others(1): Show |
4 | HG02717.hp1 HG02970.hp2 NA18964.hp2 others(1): Show |
intron_variant | MODIFIER | c.2342+461_2342+483d others(25): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864688 | ATATATAT others(18): Show |
A | 4 | a0001c0001t0001g0029 a0001c0001t0002g0084 a0001c0001t0002g0085 others(1): Show |
4 | HG02897.hp1 NA18951.hp2 NA18988.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+461_2342+485d others(27): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864688 | |||||||
| chr2:189864689 | T | A | 31 | a0001c0001t0001g0005 a0001c0001t0001g0113 a0001c0001t0001g0125 others(28): Show |
31 | HG00280.hp2 HG00544.hp2 HG00558.hp1 others(28): Show |
intron_variant | MODIFIER | c.2342+461T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864689 | |||||||
| chr2:189864691 | T | A | 33 | a0001c0001t0001g0021 a0001c0001t0001g0113 a0001c0001t0001g0114 others(30): Show |
33 | HG00140.hp1 HG00423.hp1 HG01123.hp1 others(30): Show |
intron_variant | MODIFIER | c.2342+463T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864691 | |||||||
| chr2:189864693 | T | A | 35 | a0001c0001t0001g0021 a0001c0001t0001g0111 a0001c0001t0001g0112 others(32): Show |
35 | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(32): Show |
intron_variant | MODIFIER | c.2342+465T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864693 | |||||||
| chr2:189864695 | T | A | 25 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(22): Show |
25 | HG00423.hp1 HG01255.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.2342+467T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864695 | |||||||
| chr2:189864697 | T | A | 13 | a0001c0001t0001g0023 a0001c0001t0001g0111 a0001c0001t0001g0112 others(10): Show |
13 | HG00423.hp1 HG01255.hp1 HG03098.hp1 others(10): Show |
intron_variant | MODIFIER | c.2342+469T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864697 | |||||||
| chr2:189864699 | T | A | 12 | a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 others(9): Show |
12 | HG01255.hp1 HG02896.hp2 HG02976.hp1 others(9): Show |
intron_variant | MODIFIER | c.2342+471T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864699 | |||||||
| chr2:189864701 | T | A | 9 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0120 others(6): Show |
9 | HG00558.hp2 HG02165.hp2 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.2342+473T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864701 | |||||||
| chr2:189864703 | T | A | 5 | a0001c0001t0001g0022 a0001c0001t0002g0040 a0001c0001t0002g0064 others(2): Show |
5 | HG02630.hp2 HG02735.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.2342+475T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864703 | |||||||
| chr2:189864705 | T | A | 2 | a0001c0001t0001g0148 a0001c0001t0003g0209 |
2 | HG00099.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2342+477T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864705 | |||||||
| chr2:189864707 | T | A | 3 | a0001c0001t0001g0026 a0001c0001t0001g0191 a0001c0001t0003g0209 |
3 | HG02055.hp2 HG03098.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2342+479T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864707 | |||||||
| chr2:189864709 | T | A | 2 | a0001c0001t0003g0209 a0001c0002t0001g0017 |
2 | HG02055.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2342+481T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864709 | |||||||
| chr2:189864711 | T | A | 3 | a0001c0001t0003g0209 a0001c0001t0004g0131 a0001c0002t0001g0017 |
3 | HG02055.hp1 HG03098.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.2342+483T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864711 | |||||||
| chr2:189864713 | T | A | 4 | a0001c0001t0001g0008 a0001c0001t0002g0047 a0001c0001t0003g0209 others(1): Show |
4 | HG02895.hp2 HG02970.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2342+485T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864713 | |||||||
| chr2:189864783 | C | G | 20 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(17): Show |
20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2342+555C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189864783 | |||||||
| chr2:189865014 | G | A | 1 | a0001c0001t0001g0008 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2342+786G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865014 | |||||||
| chr2:189865079 | C | T | 2 | a0001c0001t0003g0208 a0006c0007t0001g0010 |
2 | HG02109.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2342+851C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865079 | |||||||
| chr2:189865323 | G | A | 127 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(124): Show |
132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2342+1095G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865323 | |||||||
| chr2:189865399 | G | A | 1 | a0001c0001t0001g0030 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.2342+1171G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865399 | |||||||
| chr2:189865743 | T | C | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.2342+1515T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865743 | |||||||
| chr2:189865834 | T | A | 2 | a0001c0001t0001g0202 a0001c0001t0002g0110 |
2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2342+1606T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189865834 | |||||||
| chr2:189866297 | T | A | 1 | a0005c0008t0001g0009 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2343-1502T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866297 | |||||||
| chr2:189866471 | A | C | 1 | a0001c0001t0002g0100 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.2343-1328A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866471 | |||||||
| chr2:189866913 | T | C | 37 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(34): Show |
38 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(35): Show |
intron_variant | MODIFIER | c.2343-886T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866913 | |||||||
| chr2:189866934 | T | C | 1 | a0001c0001t0002g0044 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2343-865T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866934 | |||||||
| chr2:189866991 | T | A | 2 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | HG00642.hp1 HG01069.hp2 |
intron_variant | MODIFIER | c.2343-808T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189866991 | |||||||
| chr2:189867051 | G | C | 2 | a0001c0001t0002g0084 a0001c0001t0002g0085 |
2 | NA18988.hp1 NA19005.hp2 |
intron_variant | MODIFIER | c.2343-748G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867051 | |||||||
| chr2:189867067 | C | G | 2 | a0001c0001t0001g0202 a0001c0001t0002g0110 |
2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2343-732C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867067 | |||||||
| chr2:189867106 | A | G | 126 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(123): Show |
131 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(128): Show |
intron_variant | MODIFIER | c.2343-693A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867106 | |||||||
| chr2:189867140 | A | G | 1 | a0001c0001t0001g0201 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2343-659A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867140 | |||||||
| chr2:189867241 | C | G | 20 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(17): Show |
20 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(17): Show |
intron_variant | MODIFIER | c.2343-558C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867241 | |||||||
| chr2:189867486 | T | G | 5 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0223 others(2): Show |
5 | HG02895.hp2 HG02897.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.2343-313T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867486 | |||||||
| chr2:189867534 | TAGAG | T | 62 | a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0029 others(59): Show |
65 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.2343-260_2343-257d others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | 189867534 | ||||||
| chr2:189867555 | T | C | 3 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 |
3 | HG00558.hp2 HG02165.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.2343-244T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867555 | |||||||
| chr2:189867708 | A | G | 1 | a0001c0001t0002g0063 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.2343-91A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867708 | |||||||
| chr2:189867758 | T | G | 1 | a0001c0001t0001g0181 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2343-41T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | 189867758 | |||||||
| chr2:189868066 | C | A | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2473+137C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868066 | |||||||
| chr2:189868155 | A | C | 16 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(13): Show |
17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2473+226A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868155 | |||||||
| chr2:189868569 | C | A | 2 | a0001c0002t0005g0012 a0001c0002t0005g0015 |
2 | HG03471.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2473+640C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868569 | |||||||
| chr2:189868661 | A | G | 2 | a0001c0001t0001g0156 a0001c0001t0001g0157 |
2 | NA18967.hp2 NA19068.hp1 |
intron_variant | MODIFIER | c.2473+732A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868661 | |||||||
| chr2:189868672 | G | A | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.2473+743G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189868672 | |||||||
| chr2:189869140 | C | T | 1 | a0001c0001t0001g0137 | 1 | NA18962.hp2 | intron_variant | MODIFIER | c.2473+1211C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869140 | |||||||
| chr2:189869224 | A | G | 1 | a0001c0001t0001g0140 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.2473+1295A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869224 | |||||||
| chr2:189869409 | G | A | 1 | a0001c0001t0001g0202 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.2473+1480G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869409 | |||||||
| chr2:189869492 | G | A | 19 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(16): Show |
19 | HG02109.hp1 HG02135.hp2 HG02155.hp2 others(16): Show |
intron_variant | MODIFIER | c.2473+1563G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869492 | |||||||
| chr2:189869563 | T | C | 1 | a0001c0001t0001g0132 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.2473+1634T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869563 | |||||||
| chr2:189869635 | G | A | 15 | a0001c0001t0002g0089 a0001c0001t0004g0002 a0001c0001t0004g0065 others(12): Show |
16 | HG02451.hp1 HG02486.hp2 HG02559.hp2 others(13): Show |
intron_variant | MODIFIER | c.2473+1706G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869635 | |||||||
| chr2:189869642 | T | C | 127 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(124): Show |
132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2473+1713T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869642 | |||||||
| chr2:189869680 | T | A | 16 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(13): Show |
17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2473+1751T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869680 | |||||||
| chr2:189869710 | G | C | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2473+1781G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869710 | |||||||
| chr2:189869773 | C | T | 1 | a0001c0001t0001g0145 | 1 | NA18956.hp2 | intron_variant | MODIFIER | c.2473+1844C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869773 | |||||||
| chr2:189869816 | T | TA | 75 | a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0029 others(72): Show |
78 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.2473+1904dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | 189869816 | ||||||
| chr2:189869816 | TA | T | 22 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(19): Show |
22 | HG02165.hp2 HG02280.hp1 HG02615.hp2 others(19): Show |
intron_variant | MODIFIER | c.2473+1904delA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | 189869816 | ||||||
| chr2:189869981 | A | T | 18 | a0001c0001t0001g0202 a0001c0001t0002g0110 a0001c0001t0003g0006 others(15): Show |
19 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(16): Show |
intron_variant | MODIFIER | c.2473+2052A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189869981 | |||||||
| chr2:189870004 | T | C | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.2473+2075T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870004 | |||||||
| chr2:189870029 | A | G | 20 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(17): Show |
20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2473+2100A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870029 | |||||||
| chr2:189870055 | TG | T | 9 | a0001c0001t0001g0141 a0001c0001t0001g0183 a0001c0001t0002g0047 others(6): Show |
9 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(6): Show |
intron_variant | MODIFIER | c.2473+2127delG | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870055 | |||||||
| chr2:189870073 | C | G | 1 | a0001c0001t0001g0011 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2473+2144C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870073 | |||||||
| chr2:189870373 | C | T | 1 | a0001c0001t0001g0158 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2473+2444C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870373 | |||||||
| chr2:189870548 | A | T | 9 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(6): Show |
10 | HG01891.hp1 HG02280.hp2 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.2473+2619A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870548 | |||||||
| chr2:189870600 | A | C | 1 | a0001c0001t0002g0064 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2473+2671A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870600 | |||||||
| chr2:189870934 | C | T | 62 | a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0001g0029 others(59): Show |
65 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.2474-2562C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189870934 | |||||||
| chr2:189871004 | T | C | 20 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(17): Show |
20 | HG02615.hp2 HG02723.hp2 HG02735.hp2 others(17): Show |
intron_variant | MODIFIER | c.2474-2492T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871004 | |||||||
| chr2:189871142 | C | T | 1 | a0001c0001t0002g0064 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.2474-2354C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871142 | |||||||
| chr2:189871303 | C | G | 4 | a0001c0003t0001g0018 a0001c0003t0001g0045 a0001c0003t0001g0046 others(1): Show |
4 | HG01081.hp2 HG02280.hp1 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.2474-2193C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871303 | |||||||
| chr2:189871378 | T | C | 62 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(59): Show |
64 | HG01069.hp1 HG01884.hp2 HG01891.hp1 others(61): Show |
intron_variant | MODIFIER | c.2474-2118T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189871378 | |||||||
| chr2:189872055 | C | G | 1 | a0001c0001t0001g0179 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.2474-1441C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872055 | |||||||
| chr2:189872118 | T | G | 127 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(124): Show |
132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2474-1378T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872118 | |||||||
| chr2:189872230 | C | G | 1 | a0001c0001t0001g0111 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2474-1266C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872230 | |||||||
| chr2:189872490 | C | T | 12 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(9): Show |
13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2474-1006C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872490 | |||||||
| chr2:189872624 | GTTTTA | G | 6 | a0001c0001t0001g0008 a0001c0001t0001g0027 a0001c0001t0004g0131 others(3): Show |
6 | HG02717.hp1 HG03471.hp1 NA19030.hp2 others(3): Show |
intron_variant | MODIFIER | c.2474-852_2474-848d others(7): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | 189872624 | ||||||
| chr2:189872690 | T | C | 1 | a0001c0001t0001g0027 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2474-806T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872690 | |||||||
| chr2:189872724 | C | T | 4 | a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 others(1): Show |
4 | HG01069.hp1 HG02055.hp1 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.2474-772C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872724 | |||||||
| chr2:189872883 | C | T | 8 | a0001c0001t0002g0001 a0001c0001t0002g0035 a0001c0001t0002g0036 others(5): Show |
9 | HG01891.hp1 HG02280.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.2474-613C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872883 | |||||||
| chr2:189872902 | A | T | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2474-594A>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872902 | |||||||
| chr2:189872903 | G | T | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2474-593G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189872903 | |||||||
| chr2:189873112 | G | A | 1 | a0001c0001t0001g0175 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.2474-384G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189873112 | |||||||
| chr2:189873259 | A | G | 1 | a0005c0008t0001g0009 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2474-237A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 11/12 | chr2 | 189873259 | |||||||
| chr2:189873762 | G | C | 1 | a0001c0001t0002g0082 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.2634+106G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189873762 | |||||||
| chr2:189873907 | C | T | 1 | a0001c0001t0001g0165 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2634+251C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189873907 | |||||||
| chr2:189874082 | A | G | 13 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(10): Show |
13 | HG02615.hp2 HG02723.hp2 HG02818.hp2 others(10): Show |
intron_variant | MODIFIER | c.2634+426A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874082 | |||||||
| chr2:189874156 | ACT | A | 3 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0226 |
3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2634+503_2634+504d others(4): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189874156 | ||||||
| chr2:189874286 | A | C | 36 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(33): Show |
37 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(34): Show |
intron_variant | MODIFIER | c.2634+630A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874286 | |||||||
| chr2:189874288 | C | A | 125 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(122): Show |
130 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(127): Show |
intron_variant | MODIFIER | c.2634+632C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874288 | |||||||
| chr2:189874312 | C | G | 18 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(15): Show |
18 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.2634+656C>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874312 | |||||||
| chr2:189874408 | G | A | 1 | a0001c0001t0002g0062 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.2634+752G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874408 | |||||||
| chr2:189874523 | C | T | 2 | a0001c0001t0001g0133 a0001c0001t0001g0201 |
2 | HG02615.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2634+867C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874523 | |||||||
| chr2:189874616 | C | T | 1 | a0001c0001t0001g0143 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2634+960C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874616 | |||||||
| chr2:189874761 | T | C | 4 | a0001c0001t0001g0119 a0001c0001t0001g0133 a0001c0001t0001g0160 others(1): Show |
4 | HG01261.hp1 HG02615.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.2634+1105T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874761 | |||||||
| chr2:189874907 | A | G | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2634+1251A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874907 | |||||||
| chr2:189874931 | T | A | 16 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(13): Show |
17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2634+1275T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189874931 | |||||||
| chr2:189875057 | C | T | 12 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(9): Show |
13 | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.2634+1401C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875057 | |||||||
| chr2:189875058 | G | A | 1 | a0001c0001t0003g0209 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2634+1402G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875058 | |||||||
| chr2:189875311 | C | T | 1 | a0001c0001t0002g0092 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2634+1655C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875311 | |||||||
| chr2:189875345 | G | A | 2 | a0001c0001t0001g0202 a0001c0001t0002g0110 |
2 | HG02965.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2634+1689G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875345 | |||||||
| chr2:189875388 | G | A | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2634+1732G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875388 | |||||||
| chr2:189875391 | C | T | 4 | a0001c0001t0001g0144 a0001c0001t0001g0197 a0001c0001t0001g0199 others(1): Show |
4 | HG02083.hp2 HG03834.hp2 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.2634+1735C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875391 | |||||||
| chr2:189875441 | T | A | 1 | a0001c0001t0002g0079 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2634+1785T>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875441 | |||||||
| chr2:189875589 | G | C | 27 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(24): Show |
28 | HG01891.hp1 HG02280.hp2 HG02615.hp2 others(25): Show |
intron_variant | MODIFIER | c.2635-1683G>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875589 | |||||||
| chr2:189875747 | G | T | 1 | a0001c0001t0008g0042 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2635-1525G>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189875747 | |||||||
| chr2:189875955 | C | CA | 52 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0119 others(49): Show |
54 | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(51): Show |
intron_variant | MODIFIER | c.2635-1292dupA | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | ||||||
| chr2:189875955 | C | CAA | 24 | a0001c0001t0001g0025 a0001c0001t0001g0160 a0001c0001t0001g0184 others(21): Show |
25 | HG00423.hp2 HG00544.hp2 HG00733.hp2 others(22): Show |
intron_variant | MODIFIER | c.2635-1293_2635-129 others(6): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | ||||||
| chr2:189875955 | C | CAAA | 27 | a0001c0001t0001g0008 a0001c0001t0001g0022 a0001c0001t0001g0023 others(24): Show |
27 | HG01981.hp1 HG02109.hp1 HG02257.hp2 others(24): Show |
intron_variant | MODIFIER | c.2635-1294_2635-129 others(7): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | ||||||
| chr2:189875955 | C | CAAAA | 18 | a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0116 others(15): Show |
19 | HG01891.hp1 HG02135.hp2 HG02280.hp2 others(16): Show |
intron_variant | MODIFIER | c.2635-1295_2635-129 others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | ||||||
| chr2:189875955 | C | CAAAAAA | 6 | a0001c0001t0003g0006 a0001c0001t0003g0214 a0001c0001t0003g0217 others(3): Show |
7 | HG01884.hp2 HG02109.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.2635-1297_2635-129 others(10): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | ||||||
| chr2:189875955 | C | CAAAAAAA | 5 | a0001c0001t0002g0040 a0001c0001t0003g0208 a0001c0001t0003g0215 others(2): Show |
5 | HG01891.hp2 HG02145.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.2635-1298_2635-129 others(11): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189875955 | ||||||
| chr2:189876051 | A | ACTGT | 127 | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0022 others(124): Show |
132 | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(129): Show |
intron_variant | MODIFIER | c.2635-1218_2635-121 others(8): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189876051 | ||||||
| chr2:189876158 | A | C | 1 | a0008c0006t0001g0228 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2635-1114A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876158 | |||||||
| chr2:189876171 | T | C | 1 | a0005c0008t0001g0009 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2635-1101T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876171 | |||||||
| chr2:189876174 | T | C | 16 | a0001c0001t0003g0006 a0001c0001t0003g0208 a0001c0001t0003g0210 others(13): Show |
17 | HG01069.hp1 HG01884.hp2 HG01891.hp2 others(14): Show |
intron_variant | MODIFIER | c.2635-1098T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876174 | |||||||
| chr2:189876594 | T | C | 4 | a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0151 others(1): Show |
4 | NA18956.hp1 NA18983.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.2635-678T>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876594 | |||||||
| chr2:189876652 | A | C | 2 | a0001c0001t0001g0133 a0001c0001t0001g0201 |
2 | HG02615.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2635-620A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876652 | |||||||
| chr2:189876663 | C | A | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2635-609C>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876663 | |||||||
| chr2:189876747 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2635-525A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876747 | |||||||
| chr2:189876770 | C | CT | 10 | a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0183 others(7): Show |
10 | HG00423.hp1 HG00558.hp2 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.2635-480dupT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189876770 | ||||||
| chr2:189876770 | CT | C | 44 | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 others(41): Show |
45 | HG01069.hp1 HG01884.hp2 HG02109.hp1 others(42): Show |
intron_variant | MODIFIER | c.2635-480delT | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | 189876770 | ||||||
| chr2:189876966 | A | G | 6 | a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0171 others(3): Show |
6 | HG01261.hp2 HG01346.hp2 HG02004.hp2 others(3): Show |
intron_variant | MODIFIER | c.2635-306A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876966 | |||||||
| chr2:189876967 | C | T | 3 | a0002c0004t0001g0224 a0002c0004t0001g0225 a0003c0005t0001g0226 |
3 | HG02895.hp2 HG02897.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2635-305C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189876967 | |||||||
| chr2:189877007 | G | A | 2 | a0001c0001t0002g0088 a0001c0001t0002g0090 |
2 | NA18964.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.2635-265G>A | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877007 | |||||||
| chr2:189877016 | A | G | 17 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(14): Show |
17 | HG02109.hp1 HG02135.hp2 HG02257.hp2 others(14): Show |
intron_variant | MODIFIER | c.2635-256A>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877016 | |||||||
| chr2:189877046 | T | G | 1 | a0001c0001t0002g0090 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2635-226T>G | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877046 | |||||||
| chr2:189877117 | C | T | 1 | a0009c0010t0001g0007 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2635-155C>T | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877117 | |||||||
| chr2:189877128 | A | C | 1 | a0001c0001t0002g0102 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2635-144A>C | PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 12/12 | chr2 | 189877128 |