Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 79677 |
| ensemblid | ENSG00000163029.16 |
| hgncid | 20466 |
| symbol | SMC6 |
| name | structural maintenance of chromosomes 6 |
| refseq_nuc | NM_001142286.2 |
| refseq_prot | NP_001135758.1 |
| ensembl_nuc | ENST00000448223.7 |
| ensembl_prot | ENSP00000404092.2 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 17663812 |
| end | 17753810 |
| strand | - |
| ver | v1.2 |
| region | chr2:17663812-17753810 |
| region5000 | chr2:17658812-17758810 |
| regionname0 | SMC6_chr2_17663812_17753810 |
| regionname5000 | SMC6_chr2_17658812_17758810 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 1091 | 193 | 52 | 42 | 69 | 9 | 20 | 48 | SMC6_chr2_17658812_17758810 | SMC6 | MAKRK others(1086): Show |
chr2 | 17658812 | 17758810 |
| a0002 | 0/0 | 1091 | 32 | 24 | 4 | 0 | 2 | 2 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | MAKRK others(1086): Show |
chr2 | 17658812 | 17758810 |
| a0003 | 0/1 | 1091 | 28 | 6 | 12 | 4 | 3 | 2 | 4 | SMC6_chr2_17658812_17758810 | SMC6 | MAKRK others(1086): Show |
chr2 | 17658812 | 17758810 |
| a0004 | 0/0 | 1091 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | MAKRK others(1086): Show |
chr2 | 17658812 | 17758810 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 3273 | 190 | 51 | 41 | 68 | 9 | 20 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 | ||
| a0001c0005 | 0/0 | 3273 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 | ||
| a0001c0006 | 0/0 | 3273 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 | ||
| a0001c0007 | 0/0 | 3273 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 | ||
| a0002c0003 | 0/0 | 3273 | 26 | 19 | 3 | 0 | 2 | 2 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 | ||
| a0002c0004 | 0/0 | 3273 | 6 | 5 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 | ||
| a0003c0002 | 0/1 | 3273 | 28 | 6 | 12 | 4 | 3 | 2 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 | ||
| a0004c0008 | 0/0 | 3273 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | ATGGC others(3268): Show |
chr2 | 17658812 | 17758810 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 5240 | 21 | 20 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0002 | 0/0 | 5240 | 63 | 17 | 17 | 10 | 6 | 13 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0003 | 1/0 | 5240 | 63 | 2 | 18 | 35 | 2 | 5 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0004 | 0/0 | 5239 | 22 | 5 | 1 | 16 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5234): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0005 | 0/0 | 5239 | 10 | 4 | 0 | 4 | 1 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5234): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0006 | 0/0 | 5240 | 2 | 1 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0007 | 0/0 | 5240 | 2 | 2 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0008 | 0/0 | 5240 | 2 | 0 | 1 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0013 | 0/0 | 5240 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0014 | 0/0 | 5240 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0015 | 0/0 | 5240 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0016 | 0/0 | 5240 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0001t0017 | 0/0 | 5239 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5234): Show |
chr2 | 17658812 | 17758810 |
| a0001c0005t0001 | 0/0 | 5240 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0006t0010 | 0/0 | 5240 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0001c0007t0003 | 0/0 | 5240 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0002c0003t0001 | 0/0 | 5240 | 26 | 19 | 3 | 0 | 2 | 2 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0002c0004t0002 | 0/0 | 5240 | 6 | 5 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0003c0002t0001 | 0/1 | 5240 | 25 | 4 | 12 | 3 | 3 | 2 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0003c0002t0009 | 0/0 | 5240 | 2 | 2 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0003c0002t0011 | 0/0 | 5240 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5235): Show |
chr2 | 17658812 | 17758810 |
| a0004c0008t0012 | 0/0 | 5239 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | GGTTA others(5234): Show |
chr2 | 17658812 | 17758810 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0005 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0148 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0149 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0001g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0002 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0017 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0118 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0120 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0122 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0175 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0185 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0201 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0203 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0215 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0220 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0221 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0228 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0002g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0090 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0094 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0101 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0109 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0003g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0023 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0004g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0005g0241 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0006g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0006g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0007g0007 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0008g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0008g0214 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0013g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0014g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0015g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0016g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0001t0017g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0005t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0006t0010g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0001c0007t0003g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0008 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0009 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0003t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0004t0002g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0004t0002g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0004t0002g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0004t0002g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0002c0004t0002g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0158 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0198 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0001g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0009g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0009g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0003c0002t0011g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| a0004c0008t0012g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0003 | g0094 | EUR | GBR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0129 | EUR | GBR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00140 | hp1 | a0001 | c0001 | t0002 | g0185 | EUR | GBR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00140 | hp2 | a0003 | c0002 | t0001 | g0198 | EUR | GBR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0120 | EUR | FIN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00280 | hp2 | a0002 | c0003 | t0001 | g0009 | EUR | FIN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00323 | hp1 | a0003 | c0002 | t0001 | g0162 | EUR | FIN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00323 | hp2 | a0001 | c0001 | t0003 | g0098 | EUR | FIN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00408 | hp1 | a0001 | c0001 | t0003 | g0069 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0117 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00423 | hp1 | a0001 | c0001 | t0003 | g0096 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00423 | hp2 | a0001 | c0001 | t0003 | g0072 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00438 | hp1 | a0001 | c0001 | t0003 | g0087 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00438 | hp2 | a0001 | c0001 | t0002 | g0116 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00558 | hp1 | a0001 | c0001 | t0003 | g0045 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00558 | hp2 | a0001 | c0001 | t0003 | g0075 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00621 | hp1 | a0001 | c0001 | t0004 | g0022 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00621 | hp2 | a0001 | c0001 | t0003 | g0082 | EAS | CHS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00639 | hp1 | a0001 | c0001 | t0004 | g0032 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0211 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00642 | hp1 | a0001 | c0001 | t0014 | g0064 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00642 | hp2 | a0001 | c0001 | t0002 | g0159 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00735 | hp1 | a0001 | c0001 | t0003 | g0109 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00735 | hp2 | a0003 | c0002 | t0001 | g0190 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00738 | hp1 | a0001 | c0001 | t0003 | g0088 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00738 | hp2 | a0003 | c0002 | t0001 | g0168 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00741 | hp1 | a0001 | c0001 | t0003 | g0084 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0013 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01069 | hp1 | a0001 | c0006 | t0010 | g0012 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0201 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01070 | hp1 | a0001 | c0001 | t0002 | g0014 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01070 | hp2 | a0001 | c0001 | t0002 | g0202 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0015 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0200 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0210 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01074 | hp2 | a0001 | c0001 | t0003 | g0060 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01081 | hp1 | a0001 | c0001 | t0003 | g0089 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0125 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01099 | hp1 | a0001 | c0001 | t0002 | g0066 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01099 | hp2 | a0002 | c0004 | t0002 | g0186 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01109 | hp1 | a0003 | c0002 | t0001 | g0188 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0073 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01168 | hp2 | a0002 | c0003 | t0001 | g0163 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01175 | hp1 | a0001 | c0001 | t0003 | g0112 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01175 | hp2 | a0003 | c0002 | t0001 | g0199 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01192 | hp1 | a0001 | c0001 | t0003 | g0095 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01192 | hp2 | a0003 | c0002 | t0001 | g0166 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01243 | hp1 | a0001 | c0001 | t0002 | g0203 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01243 | hp2 | a0001 | c0001 | t0003 | g0055 | AMR | PUR | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01255 | hp1 | a0001 | c0001 | t0003 | g0051 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01255 | hp2 | a0001 | c0001 | t0006 | g0042 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01256 | hp1 | a0003 | c0002 | t0001 | g0167 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01256 | hp2 | a0001 | c0001 | t0003 | g0093 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01258 | hp1 | a0002 | c0003 | t0001 | g0164 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01258 | hp2 | a0003 | c0002 | t0001 | g0165 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01261 | hp1 | a0001 | c0001 | t0015 | g0016 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01261 | hp2 | a0001 | c0001 | t0002 | g0221 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01346 | hp1 | a0001 | c0001 | t0003 | g0101 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01346 | hp2 | a0002 | c0003 | t0001 | g0009 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01358 | hp1 | a0003 | c0002 | t0001 | g0157 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01358 | hp2 | a0001 | c0001 | t0003 | g0071 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01433 | hp1 | a0003 | c0002 | t0001 | g0191 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01433 | hp2 | a0001 | c0001 | t0008 | g0214 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01496 | hp1 | a0001 | c0001 | t0002 | g0127 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01496 | hp2 | a0001 | c0001 | t0002 | g0218 | AMR | CLM | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01516 | hp1 | a0003 | c0002 | t0001 | g0189 | EUR | IBS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01516 | hp2 | a0001 | c0001 | t0002 | g0002 | EUR | IBS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01517 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | IBS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01517 | hp2 | a0002 | c0003 | t0001 | g0152 | EUR | IBS | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01884 | hp1 | a0001 | c0001 | t0005 | g0236 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01884 | hp2 | a0001 | c0001 | t0002 | g0204 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01891 | hp1 | a0002 | c0003 | t0001 | g0177 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01891 | hp2 | a0001 | c0001 | t0002 | g0223 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0215 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01934 | hp2 | a0001 | c0001 | t0003 | g0092 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01981 | hp1 | a0003 | c0002 | t0001 | g0011 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG01981 | hp2 | a0001 | c0001 | t0003 | g0110 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02004 | hp1 | a0001 | c0001 | t0003 | g0091 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02004 | hp2 | a0003 | c0002 | t0001 | g0011 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02040 | hp1 | a0001 | c0001 | t0003 | g0114 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02040 | hp2 | a0001 | c0001 | t0002 | g0115 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02055 | hp1 | a0002 | c0004 | t0002 | g0183 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0123 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02056 | hp1 | a0001 | c0001 | t0005 | g0238 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02056 | hp2 | a0001 | c0001 | t0003 | g0131 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02074 | hp1 | a0001 | c0001 | t0003 | g0099 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02074 | hp2 | a0001 | c0001 | t0002 | g0065 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02129 | hp1 | a0001 | c0001 | t0003 | g0074 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0076 | EAS | KHV | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02145 | hp1 | a0001 | c0001 | t0005 | g0240 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0222 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02155 | hp1 | a0001 | c0001 | t0003 | g0085 | EAS | CDX | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0083 | EAS | CDX | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02257 | hp1 | a0002 | c0003 | t0001 | g0155 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02258 | hp1 | a0001 | c0001 | t0003 | g0079 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0149 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02273 | hp1 | a0001 | c0001 | t0003 | g0103 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02273 | hp2 | a0001 | c0001 | t0003 | g0044 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0019 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02280 | hp2 | a0002 | c0003 | t0001 | g0154 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02300 | hp1 | a0001 | c0001 | t0003 | g0107 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02300 | hp2 | a0003 | c0002 | t0001 | g0187 | AMR | PEL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02451 | hp1 | a0001 | c0001 | t0004 | g0029 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0205 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02572 | hp1 | a0001 | c0001 | t0006 | g0043 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02572 | hp2 | a0001 | c0001 | t0007 | g0007 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02615 | hp1 | a0002 | c0003 | t0001 | g0137 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02615 | hp2 | a0001 | c0005 | t0001 | g0021 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02622 | hp1 | a0002 | c0003 | t0001 | g0135 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02622 | hp2 | a0002 | c0003 | t0001 | g0008 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02630 | hp2 | a0002 | c0003 | t0001 | g0133 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02698 | hp1 | a0001 | c0001 | t0003 | g0047 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02698 | hp2 | a0001 | c0001 | t0002 | g0017 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02717 | hp1 | a0003 | c0002 | t0001 | g0180 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02723 | hp1 | a0002 | c0003 | t0001 | g0144 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02723 | hp2 | a0003 | c0002 | t0001 | g0160 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02809 | hp1 | a0001 | c0001 | t0002 | g0229 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02809 | hp2 | a0002 | c0003 | t0001 | g0134 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02886 | hp1 | a0002 | c0003 | t0001 | g0150 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0140 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02896 | hp1 | a0002 | c0003 | t0001 | g0156 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02896 | hp2 | a0001 | c0001 | t0004 | g0038 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02897 | hp1 | a0001 | c0001 | t0004 | g0037 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02897 | hp2 | a0002 | c0003 | t0001 | g0153 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02922 | hp1 | a0001 | c0001 | t0001 | g0148 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0206 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0139 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02970 | hp2 | a0002 | c0004 | t0002 | g0010 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02976 | hp1 | a0002 | c0003 | t0001 | g0151 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0207 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03041 | hp1 | a0002 | c0003 | t0001 | g0172 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03041 | hp2 | a0002 | c0004 | t0002 | g0179 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03098 | hp1 | a0001 | c0001 | t0004 | g0031 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03098 | hp2 | a0003 | c0002 | t0009 | g0230 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0142 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03130 | hp2 | a0001 | c0001 | t0002 | g0208 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0226 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03139 | hp2 | a0002 | c0004 | t0002 | g0010 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0219 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0105 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03225 | hp2 | a0001 | c0001 | t0007 | g0007 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0224 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03239 | hp2 | a0002 | c0003 | t0001 | g0169 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03453 | hp1 | a0002 | c0003 | t0001 | g0182 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03516 | hp1 | a0002 | c0004 | t0002 | g0184 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0212 | AFR | ESN | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03540 | hp1 | a0002 | c0003 | t0001 | g0008 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0143 | AFR | GWD | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03579 | hp1 | a0003 | c0002 | t0001 | g0161 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0147 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03654 | hp1 | a0001 | c0001 | t0003 | g0052 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03654 | hp2 | a0003 | c0002 | t0001 | g0194 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03669 | hp1 | a0001 | c0001 | t0003 | g0113 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0174 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0121 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03704 | hp2 | a0001 | c0001 | t0008 | g0213 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0225 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03710 | hp2 | a0001 | c0001 | t0002 | g0119 | SAS | PJL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03834 | hp1 | a0001 | c0001 | t0003 | g0067 | SAS | BEB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03834 | hp2 | a0002 | c0003 | t0001 | g0170 | SAS | BEB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04184 | hp1 | a0001 | c0001 | t0003 | g0081 | SAS | BEB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04184 | hp2 | a0001 | c0001 | t0002 | g0126 | SAS | BEB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0176 | SAS | STU | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04199 | hp2 | a0001 | c0001 | t0002 | g0128 | SAS | STU | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0175 | SAS | STU | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04204 | hp2 | a0001 | c0001 | t0005 | g0235 | SAS | STU | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04228 | hp1 | a0003 | c0002 | t0001 | g0178 | SAS | STU | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0118 | SAS | STU | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18522 | hp1 | a0002 | c0003 | t0001 | g0181 | AFR | YRI | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0141 | AFR | YRI | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18747 | hp1 | a0004 | c0008 | t0012 | g0193 | EAS | CHB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18747 | hp2 | a0001 | c0001 | t0013 | g0106 | EAS | CHB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | YRI | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18906 | hp2 | a0001 | c0001 | t0002 | g0220 | AFR | YRI | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18945 | hp1 | a0001 | c0001 | t0004 | g0036 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18945 | hp2 | a0001 | c0001 | t0003 | g0046 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18946 | hp1 | a0001 | c0001 | t0004 | g0026 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18946 | hp2 | a0001 | c0001 | t0003 | g0068 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18953 | hp1 | a0001 | c0001 | t0016 | g0138 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18953 | hp2 | a0001 | c0001 | t0003 | g0070 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18957 | hp1 | a0001 | c0001 | t0004 | g0034 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18957 | hp2 | a0001 | c0001 | t0003 | g0111 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18959 | hp1 | a0001 | c0001 | t0003 | g0100 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18959 | hp2 | a0001 | c0001 | t0005 | g0237 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18968 | hp1 | a0001 | c0001 | t0004 | g0025 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18968 | hp2 | a0001 | c0001 | t0003 | g0086 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18971 | hp1 | a0001 | c0001 | t0004 | g0004 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18971 | hp2 | a0001 | c0001 | t0003 | g0041 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18977 | hp1 | a0001 | c0001 | t0002 | g0124 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18977 | hp2 | a0001 | c0001 | t0004 | g0023 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18978 | hp1 | a0001 | c0001 | t0017 | g0242 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18978 | hp2 | a0001 | c0007 | t0003 | g0108 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18979 | hp1 | a0001 | c0001 | t0004 | g0028 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18979 | hp2 | a0001 | c0001 | t0003 | g0057 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18983 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18983 | hp2 | a0001 | c0001 | t0003 | g0048 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18984 | hp1 | a0001 | c0001 | t0004 | g0035 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18984 | hp2 | a0001 | c0001 | t0003 | g0062 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18989 | hp1 | a0001 | c0001 | t0003 | g0078 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18989 | hp2 | a0001 | c0001 | t0005 | g0233 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18992 | hp1 | a0001 | c0001 | t0004 | g0030 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18992 | hp2 | a0001 | c0001 | t0003 | g0097 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18993 | hp1 | a0001 | c0001 | t0004 | g0077 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18993 | hp2 | a0001 | c0001 | t0003 | g0050 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18998 | hp2 | a0001 | c0001 | t0003 | g0061 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19001 | hp1 | a0001 | c0001 | t0003 | g0080 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19001 | hp2 | a0001 | c0001 | t0004 | g0027 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19004 | hp2 | a0001 | c0001 | t0005 | g0234 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19006 | hp1 | a0001 | c0001 | t0004 | g0039 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19006 | hp2 | a0001 | c0001 | t0003 | g0049 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19012 | hp1 | a0001 | c0001 | t0004 | g0004 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19012 | hp2 | a0001 | c0001 | t0003 | g0063 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19030 | hp1 | a0001 | c0001 | t0005 | g0239 | AFR | LWK | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0020 | AFR | LWK | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19043 | hp1 | a0001 | c0001 | t0004 | g0040 | AFR | LWK | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19043 | hp2 | a0001 | c0001 | t0005 | g0232 | AFR | LWK | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19057 | hp1 | a0003 | c0002 | t0001 | g0192 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19057 | hp2 | a0001 | c0001 | t0003 | g0056 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19064 | hp1 | a0001 | c0001 | t0004 | g0024 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19064 | hp2 | a0001 | c0001 | t0003 | g0130 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19067 | hp1 | a0001 | c0001 | t0003 | g0054 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19067 | hp2 | a0003 | c0002 | t0011 | g0195 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19070 | hp1 | a0001 | c0001 | t0003 | g0059 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19070 | hp2 | a0001 | c0001 | t0004 | g0033 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19077 | hp1 | a0001 | c0001 | t0003 | g0058 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA19077 | hp2 | a0003 | c0002 | t0001 | g0197 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA20129 | hp1 | a0001 | c0001 | t0002 | g0228 | AFR | ASW | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA20129 | hp2 | a0002 | c0003 | t0001 | g0136 | AFR | ASW | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA20752 | hp1 | a0001 | c0001 | t0005 | g0241 | EUR | TSI | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0132 | EUR | TSI | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0122 | SAS | GIH | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA20905 | hp2 | a0001 | c0001 | t0002 | g0227 | SAS | GIH | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02486 | hp1 | a0001 | c0001 | t0002 | g0216 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0171 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02559 | hp1 | a0003 | c0002 | t0001 | g0173 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG02559 | hp2 | a0002 | c0003 | t0001 | g0145 | AFR | ACB | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03471 | hp1 | a0003 | c0002 | t0009 | g0231 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG03471 | hp2 | a0001 | c0001 | t0002 | g0217 | AFR | MSL | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG06807 | hp1 | a0001 | c0001 | t0003 | g0104 | AFR | USA | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0209 | AFR | USA | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18955 | hp1 | a0001 | c0001 | t0003 | g0053 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| NA18955 | hp2 | a0003 | c0002 | t0001 | g0196 | EAS | JPT | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| homoSapiens | chm13v2 | a0003 | c0002 | t0001 | g0158 | REF | REF | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0003 | g0090 | REF | REF | SMC6_chr2_17658812_17758810 | SMC6 | chr2 | 17658812 | 17758810 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:17703228 | C | T | 2 | a0002 a0003 |
59 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(56): Show |
missense_variant | MODERATE | c.2071G>A | p.Ala691Thr | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/28 | 2348/5240 | 2071/3276 | 691/1091 | chr2 | 17703228 | |||
| chr2:17716221 | T | C | 2 | a0003 a0004 |
28 | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(25): Show |
missense_variant | MODERATE | c.1390A>G | p.Arg464Gly | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/28 | 1667/5240 | 1390/3276 | 464/1091 | chr2 | 17716221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:17683727 | C | A | 1 | a0001c0007 | 1 | NA18978.hp2 | synonymous_variant | LOW | c.2715G>T | p.Leu905Leu | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/28 | 2992/5240 | 2715/3276 | 905/1091 | chr2 | 17683727 | |||
| chr2:17708651 | C | T | 1 | a0002c0004 | 6 | HG01099.hp2 HG02055.hp1 HG02970.hp2 others(3): Show |
synonymous_variant | LOW | c.1833G>A | p.Val611Val | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/28 | 2110/5240 | 1833/3276 | 611/1091 | chr2 | 17708651 | |||
| chr2:17714989 | A | G | 1 | a0001c0006 | 1 | HG01069.hp1 | synonymous_variant | LOW | c.1602T>C | p.Tyr534Tyr | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/28 | 1879/5240 | 1602/3276 | 534/1091 | chr2 | 17714989 | |||
| chr2:17721223 | C | T | 1 | a0001c0005 | 1 | HG02615.hp2 | synonymous_variant | LOW | c.765G>A | p.Glu255Glu | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 10/28 | 1042/5240 | 765/3276 | 255/1091 | chr2 | 17721223 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:17663864 | C | A | 1 | a0001c0001t0014 | 1 | HG00642.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1635G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 1635 | chr2 | 17663864 | ||||||
| chr2:17663915 | T | C | 1 | a0001c0001t0008 | 2 | HG01433.hp2 HG03704.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1584A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 1584 | chr2 | 17663915 | ||||||
| chr2:17664029 | A | G | 17 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show |
185 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(182): Show |
3_prime_UTR_variant | MODIFIER | c.*1470T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 1470 | chr2 | 17664029 | ||||||
| chr2:17664055 | A | C | 1 | a0003c0002t0011 | 1 | NA19067.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1444T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 1444 | chr2 | 17664055 | ||||||
| chr2:17664739 | TG | T | 3 | a0001c0001t0005 a0001c0001t0017 a0004c0008t0012 |
12 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*759delC | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 759 | chr2 | 17664739 | ||||||
| chr2:17664895 | A | G | 7 | a0001c0001t0001 a0001c0001t0007 a0001c0005t0001 others(4): Show |
77 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(74): Show |
3_prime_UTR_variant | MODIFIER | c.*604T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 604 | chr2 | 17664895 | ||||||
| chr2:17664910 | G | A | 1 | a0001c0001t0017 | 1 | NA18978.hp1 | 3_prime_UTR_variant | MODIFIER | c.*589C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 589 | chr2 | 17664910 | ||||||
| chr2:17664981 | A | C | 1 | a0001c0006t0010 | 1 | HG01069.hp1 | 3_prime_UTR_variant | MODIFIER | c.*518T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 518 | chr2 | 17664981 | ||||||
| chr2:17664987 | AG | A | 1 | a0001c0001t0004 | 22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*511delC | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 511 | chr2 | 17664987 | ||||||
| chr2:17665246 | C | T | 1 | a0001c0001t0007 | 2 | HG02572.hp2 HG03225.hp2 |
3_prime_UTR_variant | MODIFIER | c.*253G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 253 | chr2 | 17665246 | ||||||
| chr2:17665325 | A | T | 16 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show |
184 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(181): Show |
3_prime_UTR_variant | MODIFIER | c.*174T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 174 | chr2 | 17665325 | ||||||
| chr2:17665493 | T | C | 1 | a0001c0001t0015 | 1 | HG01261.hp1 | 3_prime_UTR_variant | MODIFIER | c.*6A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 28/28 | 6 | chr2 | 17665493 | ||||||
| chr2:17752989 | T | C | 1 | a0001c0001t0016 | 1 | NA18953.hp1 | 5_prime_UTR_variant | MODIFIER | c.-17A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/28 | 7043 | chr2 | 17752989 | ||||||
| chr2:17753052 | C | T | 1 | a0001c0001t0006 | 2 | HG01255.hp2 HG02572.hp1 |
5_prime_UTR_variant | MODIFIER | c.-80G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/28 | 7106 | chr2 | 17753052 | ||||||
| chr2:17753769 | G | C | 1 | a0003c0002t0009 | 2 | HG03098.hp2 HG03471.hp1 |
5_prime_UTR_variant | MODIFIER | c.-236C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/28 | 7823 | chr2 | 17753769 | ||||||
| chr2:17753771 | T | C | 2 | a0001c0001t0005 a0001c0001t0017 |
11 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(8): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-238A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/28 | chr2 | 17753771 | |||||||
| chr2:17753788 | C | G | 1 | a0001c0006t0010 | 1 | HG01069.hp1 | 5_prime_UTR_variant | MODIFIER | c.-255G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/28 | 7842 | chr2 | 17753788 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:17666023 | A | G | 1 | a0001c0001t0005g0238 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.3161+397T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 27/27 | chr2 | 17666023 | |||||||
| chr2:17666200 | T | C | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.3161+220A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 27/27 | chr2 | 17666200 | |||||||
| chr2:17666368 | C | A | 1 | a0002c0003t0001g0177 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3161+52G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 27/27 | chr2 | 17666368 | |||||||
| chr2:17666539 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3064-22A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17666539 | |||||||
| chr2:17666820 | CA | C | 187 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(184): Show |
196 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
intron_variant | MODIFIER | c.3064-304delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17666820 | |||||||
| chr2:17666866 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.3064-349A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17666866 | |||||||
| chr2:17666922 | T | C | 42 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0151 others(39): Show |
45 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(42): Show |
intron_variant | MODIFIER | c.3064-405A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17666922 | |||||||
| chr2:17667287 | TACCATTT others(29): Show |
T | 1 | a0003c0002t0001g0168 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.3064-806_3064-771d others(38): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17667287 | |||||||
| chr2:17667345 | T | C | 23 | a0001c0001t0001g0147 a0001c0001t0004g0004 a0001c0001t0004g0022 others(20): Show |
25 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(22): Show |
intron_variant | MODIFIER | c.3064-828A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17667345 | |||||||
| chr2:17667588 | G | A | 1 | a0001c0001t0004g0040 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3064-1071C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17667588 | |||||||
| chr2:17667692 | A | G | 43 | a0001c0001t0001g0171 a0002c0003t0001g0008 a0002c0003t0001g0009 others(40): Show |
46 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(43): Show |
intron_variant | MODIFIER | c.3064-1175T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17667692 | |||||||
| chr2:17668001 | CTG | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.3064-1486_3064-148 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17668001 | |||||||
| chr2:17668400 | C | T | 30 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 others(27): Show |
32 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(29): Show |
intron_variant | MODIFIER | c.3064-1883G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17668400 | |||||||
| chr2:17668766 | C | T | 7 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 others(4): Show |
7 | HG01261.hp2 HG01891.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.3063+1657G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17668766 | |||||||
| chr2:17668808 | A | G | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3063+1615T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17668808 | |||||||
| chr2:17668823 | G | A | 1 | a0001c0001t0002g0216 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.3063+1600C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17668823 | |||||||
| chr2:17669263 | G | A | 1 | a0001c0001t0005g0232 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.3063+1160C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17669263 | |||||||
| chr2:17669274 | A | T | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.3063+1149T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17669274 | |||||||
| chr2:17669509 | C | A | 1 | a0001c0001t0003g0111 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.3063+914G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17669509 | |||||||
| chr2:17669577 | G | A | 6 | a0001c0001t0003g0046 a0001c0001t0003g0069 a0001c0001t0003g0075 others(3): Show |
6 | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(3): Show |
intron_variant | MODIFIER | c.3063+846C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17669577 | |||||||
| chr2:17669974 | A | G | 13 | a0003c0002t0001g0011 a0003c0002t0001g0187 a0003c0002t0001g0188 others(10): Show |
14 | HG00140.hp2 HG00735.hp2 HG01109.hp1 others(11): Show |
intron_variant | MODIFIER | c.3063+449T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17669974 | |||||||
| chr2:17670230 | G | A | 1 | a0001c0001t0013g0106 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.3063+193C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 26/27 | chr2 | 17670230 | |||||||
| chr2:17670752 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2911-177C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17670752 | |||||||
| chr2:17670791 | C | A | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2911-216G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17670791 | |||||||
| chr2:17670963 | G | T | 1 | a0001c0001t0004g0077 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.2911-388C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17670963 | |||||||
| chr2:17670990 | T | C | 1 | a0001c0001t0002g0221 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.2911-415A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17670990 | |||||||
| chr2:17671010 | T | C | 1 | a0001c0001t0002g0065 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.2911-435A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671010 | |||||||
| chr2:17671036 | G | GT | 46 | a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 others(43): Show |
49 | HG00423.hp1 HG00621.hp1 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.2911-462dupA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671036 | |||||||
| chr2:17671038 | T | G | 1 | a0002c0003t0001g0151 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2911-463A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671038 | |||||||
| chr2:17671082 | C | T | 1 | a0001c0001t0002g0204 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2911-507G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671082 | |||||||
| chr2:17671243 | T | C | 12 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(9): Show |
12 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.2911-668A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671243 | |||||||
| chr2:17671269 | C | A | 2 | a0001c0001t0003g0041 a0001c0001t0003g0096 |
2 | HG00423.hp1 NA18971.hp2 |
intron_variant | MODIFIER | c.2911-694G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671269 | |||||||
| chr2:17671274 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2911-699G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671274 | |||||||
| chr2:17671380 | G | A | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2911-805C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671380 | |||||||
| chr2:17671431 | C | CCA | 47 | a0001c0001t0003g0072 a0001c0001t0003g0082 a0002c0003t0001g0008 others(44): Show |
50 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(47): Show |
intron_variant | MODIFIER | c.2911-858_2911-857d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671431 | |||||||
| chr2:17671431 | C | CCACA | 2 | a0003c0002t0001g0011 a0003c0002t0001g0188 |
3 | HG01109.hp1 HG01981.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.2911-860_2911-857d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671431 | |||||||
| chr2:17671463 | G | A | 1 | a0001c0001t0003g0061 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2911-888C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671463 | |||||||
| chr2:17671470 | A | T | 19 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0174 others(16): Show |
19 | HG00140.hp1 HG01069.hp1 HG01884.hp1 others(16): Show |
intron_variant | MODIFIER | c.2911-895T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671470 | |||||||
| chr2:17671508 | C | T | 2 | a0001c0001t0002g0203 a0001c0001t0002g0208 |
2 | HG01243.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2911-933G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671508 | |||||||
| chr2:17671570 | T | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2911-995A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671570 | |||||||
| chr2:17671608 | C | CAA | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02630.hp1 others(6): Show |
intron_variant | MODIFIER | c.2911-1035_2911-103 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671608 | |||||||
| chr2:17671608 | CA | C | 75 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0116 others(72): Show |
75 | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(72): Show |
intron_variant | MODIFIER | c.2911-1034delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671608 | |||||||
| chr2:17671608 | CAA | C | 71 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0006 others(68): Show |
72 | HG00099.hp2 HG00408.hp2 HG00639.hp2 others(69): Show |
intron_variant | MODIFIER | c.2911-1035_2911-103 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671608 | |||||||
| chr2:17671608 | CAAA | C | 76 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(73): Show |
82 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
intron_variant | MODIFIER | c.2911-1036_2911-103 others(7): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671608 | |||||||
| chr2:17671644 | A | G | 2 | a0001c0001t0005g0233 a0001c0001t0005g0237 |
2 | NA18959.hp2 NA18989.hp2 |
intron_variant | MODIFIER | c.2911-1069T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671644 | |||||||
| chr2:17671805 | A | G | 2 | a0001c0001t0003g0054 a0001c0001t0003g0057 |
2 | NA18979.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.2911-1230T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671805 | |||||||
| chr2:17671990 | CATTT | C | 4 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show |
4 | HG01109.hp2 HG02886.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.2911-1419_2911-141 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17671990 | |||||||
| chr2:17672049 | A | T | 2 | a0003c0002t0001g0192 a0003c0002t0001g0197 |
2 | NA19057.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.2911-1474T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17672049 | |||||||
| chr2:17672121 | T | C | 172 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(169): Show |
184 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(181): Show |
intron_variant | MODIFIER | c.2911-1546A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17672121 | |||||||
| chr2:17672426 | T | C | 9 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0002c0003t0001g0133 others(6): Show |
9 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.2911-1851A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17672426 | |||||||
| chr2:17672555 | T | C | 41 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0151 others(38): Show |
44 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(41): Show |
intron_variant | MODIFIER | c.2911-1980A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17672555 | |||||||
| chr2:17672633 | A | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2911-2058T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17672633 | |||||||
| chr2:17672851 | T | G | 48 | a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 others(45): Show |
48 | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.2911-2276A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17672851 | |||||||
| chr2:17673169 | C | T | 1 | a0001c0001t0002g0212 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2911-2594G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673169 | |||||||
| chr2:17673260 | T | A | 1 | a0001c0001t0003g0044 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2911-2685A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673260 | |||||||
| chr2:17673554 | A | T | 1 | a0001c0001t0005g0232 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2911-2979T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673554 | |||||||
| chr2:17673561 | A | T | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2911-2986T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673561 | |||||||
| chr2:17673561 | AATTTTTT others(5): Show |
A | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2911-2998_2911-298 others(16): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673561 | |||||||
| chr2:17673562 | A | T | 118 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(115): Show |
125 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.2911-2987T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673562 | |||||||
| chr2:17673574 | A | T | 116 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(113): Show |
123 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(120): Show |
intron_variant | MODIFIER | c.2911-2999T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673574 | |||||||
| chr2:17673624 | T | C | 119 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(116): Show |
126 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(123): Show |
intron_variant | MODIFIER | c.2911-3049A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673624 | |||||||
| chr2:17673638 | C | T | 2 | a0001c0001t0003g0072 a0001c0001t0003g0082 |
2 | HG00423.hp2 HG00621.hp2 |
intron_variant | MODIFIER | c.2911-3063G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673638 | |||||||
| chr2:17673655 | C | T | 9 | a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 others(6): Show |
9 | HG02056.hp1 HG02145.hp1 HG04204.hp2 others(6): Show |
intron_variant | MODIFIER | c.2911-3080G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673655 | |||||||
| chr2:17673672 | C | T | 20 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(17): Show |
21 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.2911-3097G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673672 | |||||||
| chr2:17673837 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2911-3262C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673837 | |||||||
| chr2:17673875 | T | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2911-3300A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673875 | |||||||
| chr2:17673958 | G | A | 2 | a0001c0001t0004g0033 a0001c0001t0004g0036 |
2 | NA18945.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.2911-3383C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17673958 | |||||||
| chr2:17674036 | T | G | 1 | a0001c0001t0003g0094 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.2911-3461A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17674036 | |||||||
| chr2:17674110 | A | G | 116 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(113): Show |
123 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(120): Show |
intron_variant | MODIFIER | c.2911-3535T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17674110 | |||||||
| chr2:17674269 | T | C | 1 | a0001c0001t0003g0046 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2911-3694A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17674269 | |||||||
| chr2:17674396 | T | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2911-3821A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17674396 | |||||||
| chr2:17675134 | GTC | G | 6 | a0002c0003t0001g0009 a0002c0003t0001g0152 a0002c0003t0001g0163 others(3): Show |
7 | HG00280.hp2 HG01168.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.2910+3723_2910+372 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17675134 | |||||||
| chr2:17675239 | T | C | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.2910+3620A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17675239 | |||||||
| chr2:17675322 | A | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2910+3537T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17675322 | |||||||
| chr2:17675604 | T | C | 12 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(9): Show |
12 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.2910+3255A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17675604 | |||||||
| chr2:17675963 | C | T | 68 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(65): Show |
75 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(72): Show |
intron_variant | MODIFIER | c.2910+2896G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17675963 | |||||||
| chr2:17675968 | C | T | 1 | a0001c0001t0001g0171 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2910+2891G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17675968 | |||||||
| chr2:17676116 | T | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2910+2743A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676116 | |||||||
| chr2:17676374 | T | C | 46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2910+2485A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676374 | |||||||
| chr2:17676495 | T | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2910+2364A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676495 | |||||||
| chr2:17676506 | A | C | 1 | a0001c0001t0006g0043 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2910+2353T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676506 | |||||||
| chr2:17676555 | G | A | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2910+2304C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676555 | |||||||
| chr2:17676574 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2910+2285A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676574 | |||||||
| chr2:17676680 | A | G | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2910+2179T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676680 | |||||||
| chr2:17676795 | T | C | 23 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0004g0004 others(20): Show |
25 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(22): Show |
intron_variant | MODIFIER | c.2910+2064A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676795 | |||||||
| chr2:17676908 | C | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2910+1951G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676908 | |||||||
| chr2:17676926 | A | G | 2 | a0001c0001t0005g0236 a0001c0001t0005g0239 |
2 | HG01884.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2910+1933T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17676926 | |||||||
| chr2:17677030 | C | CT | 23 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0004g0004 others(20): Show |
25 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(22): Show |
intron_variant | MODIFIER | c.2910+1828dupA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17677030 | |||||||
| chr2:17677176 | G | T | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2910+1683C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17677176 | |||||||
| chr2:17677202 | G | A | 89 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(86): Show |
97 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(94): Show |
intron_variant | MODIFIER | c.2910+1657C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17677202 | |||||||
| chr2:17677447 | G | A | 89 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(86): Show |
97 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(94): Show |
intron_variant | MODIFIER | c.2910+1412C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17677447 | |||||||
| chr2:17677871 | T | C | 70 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(67): Show |
77 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.2910+988A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17677871 | |||||||
| chr2:17677990 | G | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2910+869C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17677990 | |||||||
| chr2:17678108 | A | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2910+751T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17678108 | |||||||
| chr2:17678388 | C | T | 68 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(65): Show |
75 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(72): Show |
intron_variant | MODIFIER | c.2910+471G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17678388 | |||||||
| chr2:17678606 | G | GA | 57 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(54): Show |
60 | HG00140.hp1 HG00639.hp2 HG00738.hp1 others(57): Show |
intron_variant | MODIFIER | c.2910+252dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17678606 | |||||||
| chr2:17678730 | T | C | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2910+129A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 25/27 | chr2 | 17678730 | |||||||
| chr2:17679539 | T | C | 1 | a0001c0001t0004g0040 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2805-575A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17679539 | |||||||
| chr2:17679689 | C | T | 1 | a0001c0001t0002g0227 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2805-725G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17679689 | |||||||
| chr2:17679691 | C | T | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2805-727G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17679691 | |||||||
| chr2:17679716 | C | T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2805-752G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17679716 | |||||||
| chr2:17679998 | G | A | 1 | a0002c0003t0001g0151 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.2805-1034C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17679998 | |||||||
| chr2:17680103 | G | C | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2805-1139C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17680103 | |||||||
| chr2:17680161 | A | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2805-1197T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17680161 | |||||||
| chr2:17680486 | A | G | 25 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(22): Show |
28 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(25): Show |
intron_variant | MODIFIER | c.2805-1522T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17680486 | |||||||
| chr2:17680825 | A | C | 1 | a0001c0001t0003g0053 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2805-1861T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17680825 | |||||||
| chr2:17681503 | T | C | 1 | a0001c0001t0003g0059 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.2804+2135A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17681503 | |||||||
| chr2:17681546 | T | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2804+2092A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17681546 | |||||||
| chr2:17681564 | C | A | 1 | a0001c0001t0002g0219 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2804+2074G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17681564 | |||||||
| chr2:17681699 | G | A | 70 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(67): Show |
77 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.2804+1939C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17681699 | |||||||
| chr2:17681842 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2804+1796A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17681842 | |||||||
| chr2:17681920 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2804+1718A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17681920 | |||||||
| chr2:17682324 | A | G | 1 | a0001c0001t0003g0061 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2804+1314T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17682324 | |||||||
| chr2:17682427 | C | G | 6 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | HG01109.hp2 HG02258.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2804+1211G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17682427 | |||||||
| chr2:17682727 | G | A | 1 | a0001c0001t0003g0093 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.2804+911C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17682727 | |||||||
| chr2:17682735 | T | C | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2804+903A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17682735 | |||||||
| chr2:17682760 | TA | T | 6 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | HG01109.hp2 HG02258.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2804+877delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17682760 | |||||||
| chr2:17682883 | CT | C | 114 | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0019 others(111): Show |
119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.2804+754delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17682883 | |||||||
| chr2:17682885 | T | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2804+753A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17682885 | |||||||
| chr2:17683014 | G | A | 1 | a0001c0001t0001g0141 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2804+624C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17683014 | |||||||
| chr2:17683036 | C | T | 2 | a0001c0001t0002g0210 a0001c0001t0002g0211 |
2 | HG00639.hp2 HG01074.hp1 |
intron_variant | MODIFIER | c.2804+602G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17683036 | |||||||
| chr2:17683288 | T | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2804+350A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17683288 | |||||||
| chr2:17683381 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2804+257C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17683381 | |||||||
| chr2:17683413 | A | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2804+225T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17683413 | |||||||
| chr2:17683508 | A | T | 1 | a0001c0001t0001g0139 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2804+130T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 24/27 | chr2 | 17683508 | |||||||
| chr2:17683904 | T | A | 1 | a0002c0003t0001g0164 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.2679-141A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17683904 | |||||||
| chr2:17684048 | G | C | 1 | a0001c0001t0001g0019 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2679-285C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17684048 | |||||||
| chr2:17684061 | A | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2679-298T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17684061 | |||||||
| chr2:17684175 | C | T | 1 | a0003c0002t0001g0194 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2679-412G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17684175 | |||||||
| chr2:17684649 | T | C | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2679-886A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17684649 | |||||||
| chr2:17684887 | T | C | 1 | a0001c0001t0001g0143 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2679-1124A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17684887 | |||||||
| chr2:17684983 | C | T | 23 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0004g0004 others(20): Show |
25 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(22): Show |
intron_variant | MODIFIER | c.2679-1220G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17684983 | |||||||
| chr2:17685088 | G | T | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2679-1325C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685088 | |||||||
| chr2:17685128 | G | GAA | 139 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(136): Show |
148 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
intron_variant | MODIFIER | c.2679-1367_2679-136 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685128 | |||||||
| chr2:17685312 | A | C | 5 | a0002c0004t0002g0010 a0002c0004t0002g0179 a0002c0004t0002g0183 others(2): Show |
6 | HG01099.hp2 HG02055.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.2679-1549T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685312 | |||||||
| chr2:17685386 | CTCA | C | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2679-1626_2679-162 others(7): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685386 | |||||||
| chr2:17685406 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2679-1643C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685406 | |||||||
| chr2:17685500 | C | T | 4 | a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0129 others(1): Show |
4 | HG00099.hp2 HG00280.hp1 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.2679-1737G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685500 | |||||||
| chr2:17685638 | T | C | 1 | a0001c0001t0004g0040 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2679-1875A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685638 | |||||||
| chr2:17685848 | T | C | 1 | a0001c0001t0001g0171 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2679-2085A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17685848 | |||||||
| chr2:17686157 | A | G | 1 | a0001c0001t0005g0241 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2679-2394T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686157 | |||||||
| chr2:17686176 | T | C | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2679-2413A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686176 | |||||||
| chr2:17686204 | G | A | 2 | a0001c0001t0005g0236 a0001c0001t0005g0239 |
2 | HG01884.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2679-2441C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686204 | |||||||
| chr2:17686242 | G | A | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2679-2479C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686242 | |||||||
| chr2:17686560 | G | A | 1 | a0001c0001t0003g0095 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2679-2797C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686560 | |||||||
| chr2:17686738 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2679-2975G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686738 | |||||||
| chr2:17686802 | G | A | 5 | a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0037 others(2): Show |
5 | HG02451.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.2679-3039C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686802 | |||||||
| chr2:17686869 | G | T | 48 | a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 others(45): Show |
48 | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.2679-3106C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17686869 | |||||||
| chr2:17687007 | G | T | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2679-3244C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17687007 | |||||||
| chr2:17687028 | T | C | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2679-3265A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17687028 | |||||||
| chr2:17687492 | C | T | 25 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(22): Show |
28 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(25): Show |
intron_variant | MODIFIER | c.2679-3729G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17687492 | |||||||
| chr2:17687527 | AAGT | A | 54 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0133 others(51): Show |
58 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(55): Show |
intron_variant | MODIFIER | c.2679-3767_2679-376 others(7): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17687527 | |||||||
| chr2:17688046 | G | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2679-4283C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688046 | |||||||
| chr2:17688075 | T | C | 2 | a0002c0003t0001g0135 a0002c0003t0001g0136 |
2 | HG02622.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2679-4312A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688075 | |||||||
| chr2:17688133 | G | A | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2679-4370C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688133 | |||||||
| chr2:17688270 | T | C | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.2679-4507A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688270 | |||||||
| chr2:17688315 | T | TA | 41 | a0001c0001t0001g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 others(38): Show |
41 | HG01069.hp1 HG01069.hp2 HG01070.hp2 others(38): Show |
intron_variant | MODIFIER | c.2679-4553dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688315 | |||||||
| chr2:17688315 | T | TAA | 6 | a0001c0001t0002g0185 a0001c0001t0002g0210 a0001c0001t0002g0211 others(3): Show |
6 | HG00140.hp1 HG00639.hp2 HG01074.hp1 others(3): Show |
intron_variant | MODIFIER | c.2679-4554_2679-455 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688315 | |||||||
| chr2:17688315 | TA | T | 6 | a0001c0001t0001g0139 a0001c0001t0002g0065 a0001c0001t0002g0066 others(3): Show |
6 | HG01099.hp1 HG01168.hp1 HG02074.hp2 others(3): Show |
intron_variant | MODIFIER | c.2679-4553delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688315 | |||||||
| chr2:17688479 | C | G | 1 | a0001c0001t0003g0067 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2679-4716G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688479 | |||||||
| chr2:17688552 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2679-4789C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17688552 | |||||||
| chr2:17689061 | G | A | 1 | a0001c0001t0001g0146 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.2679-5298C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689061 | |||||||
| chr2:17689093 | C | T | 1 | a0001c0001t0002g0220 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2679-5330G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689093 | |||||||
| chr2:17689365 | C | T | 1 | a0003c0002t0001g0187 | 1 | HG02300.hp2 | intron_variant | MODIFIER | c.2679-5602G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689365 | |||||||
| chr2:17689459 | G | A | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.2678+5693C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689459 | |||||||
| chr2:17689507 | C | G | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2678+5645G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689507 | |||||||
| chr2:17689691 | C | T | 1 | a0001c0001t0017g0242 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2678+5461G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689691 | |||||||
| chr2:17689855 | A | C | 2 | a0003c0002t0001g0198 a0003c0002t0001g0199 |
2 | HG00140.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.2678+5297T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689855 | |||||||
| chr2:17689986 | T | C | 1 | a0001c0001t0002g0128 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2678+5166A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689986 | |||||||
| chr2:17689993 | C | T | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2678+5159G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17689993 | |||||||
| chr2:17690435 | G | A | 25 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(22): Show |
28 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(25): Show |
intron_variant | MODIFIER | c.2678+4717C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17690435 | |||||||
| chr2:17690630 | AC | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2678+4521delG | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17690630 | |||||||
| chr2:17690720 | T | C | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2678+4432A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17690720 | |||||||
| chr2:17690757 | C | T | 1 | a0001c0001t0001g0171 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2678+4395G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17690757 | |||||||
| chr2:17690783 | A | G | 1 | a0001c0001t0006g0043 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2678+4369T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17690783 | |||||||
| chr2:17690938 | C | T | 6 | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0014 others(3): Show |
7 | HG00741.hp2 HG01070.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.2678+4214G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17690938 | |||||||
| chr2:17691017 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2678+4135A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691017 | |||||||
| chr2:17691027 | A | G | 1 | a0001c0001t0004g0033 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.2678+4125T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691027 | |||||||
| chr2:17691233 | T | TAC | 42 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 others(39): Show |
44 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(41): Show |
intron_variant | MODIFIER | c.2678+3917_2678+391 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691233 | |||||||
| chr2:17691233 | TAC | T | 67 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(64): Show |
74 | HG00280.hp2 HG00323.hp1 HG00735.hp2 others(71): Show |
intron_variant | MODIFIER | c.2678+3917_2678+391 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691233 | |||||||
| chr2:17691233 | TACAC | T | 4 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0003c0002t0001g0198 others(1): Show |
5 | HG00140.hp2 HG01175.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.2678+3915_2678+391 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691233 | |||||||
| chr2:17691233 | TACACAC | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2678+3913_2678+391 others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691233 | |||||||
| chr2:17691233 | TACACACA others(3): Show |
T | 4 | a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 others(1): Show |
4 | HG00099.hp1 HG01256.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.2678+3909_2678+391 others(14): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691233 | |||||||
| chr2:17691233 | TACACACA others(5): Show |
T | 1 | a0003c0002t0001g0192 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.2678+3907_2678+391 others(16): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691233 | |||||||
| chr2:17691249 | C | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2678+3903G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691249 | |||||||
| chr2:17691251 | C | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2678+3901G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691251 | |||||||
| chr2:17691274 | C | A | 1 | a0001c0001t0002g0215 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.2678+3878G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691274 | |||||||
| chr2:17691313 | G | GGT | 3 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 |
4 | HG02717.hp2 HG03225.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2678+3837_2678+383 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691313 | |||||||
| chr2:17691313 | GGT | G | 3 | a0001c0001t0002g0125 a0001c0001t0005g0236 a0002c0003t0001g0150 |
3 | HG01081.hp2 HG01884.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2678+3837_2678+383 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691313 | |||||||
| chr2:17691342 | G | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2678+3810C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691342 | |||||||
| chr2:17691344 | G | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2678+3808C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691344 | |||||||
| chr2:17691350 | C | CTG | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2678+3800_2678+380 others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691350 | |||||||
| chr2:17691350 | C | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2678+3802G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691350 | |||||||
| chr2:17691350 | CTGTGTGT others(1): Show |
C | 116 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(113): Show |
123 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(120): Show |
intron_variant | MODIFIER | c.2678+3794_2678+380 others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691350 | |||||||
| chr2:17691358 | G | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2678+3794C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691358 | |||||||
| chr2:17691397 | T | C | 1 | a0003c0002t0001g0180 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.2678+3755A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691397 | |||||||
| chr2:17691444 | G | T | 12 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(9): Show |
12 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(9): Show |
intron_variant | MODIFIER | c.2678+3708C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691444 | |||||||
| chr2:17691459 | CA | C | 117 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(114): Show |
124 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.2678+3692delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691459 | |||||||
| chr2:17691769 | C | T | 1 | a0002c0003t0001g0181 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2678+3383G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691769 | |||||||
| chr2:17691773 | T | C | 1 | a0001c0001t0002g0227 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2678+3379A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691773 | |||||||
| chr2:17691800 | A | G | 112 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(109): Show |
119 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.2678+3352T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691800 | |||||||
| chr2:17691862 | A | G | 5 | a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0037 others(2): Show |
5 | HG02451.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.2678+3290T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691862 | |||||||
| chr2:17691881 | C | T | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2678+3271G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691881 | |||||||
| chr2:17691944 | T | C | 9 | a0001c0001t0005g0233 a0001c0001t0005g0234 a0001c0001t0005g0235 others(6): Show |
9 | HG02056.hp1 HG02145.hp1 HG04204.hp2 others(6): Show |
intron_variant | MODIFIER | c.2678+3208A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17691944 | |||||||
| chr2:17692059 | T | C | 1 | a0001c0001t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2678+3093A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692059 | |||||||
| chr2:17692086 | C | T | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2678+3066G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692086 | |||||||
| chr2:17692124 | C | T | 123 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(120): Show |
131 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.2678+3028G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692124 | |||||||
| chr2:17692127 | T | C | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.2678+3025A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692127 | |||||||
| chr2:17692154 | C | T | 1 | a0001c0001t0002g0208 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2678+2998G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692154 | |||||||
| chr2:17692201 | G | A | 23 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0004g0004 others(20): Show |
25 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(22): Show |
intron_variant | MODIFIER | c.2678+2951C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692201 | |||||||
| chr2:17692217 | T | C | 2 | a0003c0002t0001g0160 a0003c0002t0001g0161 |
2 | HG02723.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.2678+2935A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692217 | |||||||
| chr2:17692220 | G | A | 30 | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(27): Show |
30 | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.2678+2932C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692220 | |||||||
| chr2:17692401 | G | A | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2678+2751C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692401 | |||||||
| chr2:17692455 | G | A | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2678+2697C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692455 | |||||||
| chr2:17692494 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2678+2658C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692494 | |||||||
| chr2:17692636 | T | C | 1 | a0001c0001t0003g0100 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.2678+2516A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692636 | |||||||
| chr2:17692809 | G | C | 46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2678+2343C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692809 | |||||||
| chr2:17692891 | C | T | 1 | a0001c0001t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.2678+2261G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692891 | |||||||
| chr2:17692896 | G | A | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2678+2256C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692896 | |||||||
| chr2:17692910 | C | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2678+2242G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692910 | |||||||
| chr2:17692944 | C | T | 1 | a0001c0001t0003g0072 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2678+2208G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17692944 | |||||||
| chr2:17693056 | T | A | 4 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show |
4 | HG01109.hp2 HG02886.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.2678+2096A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693056 | |||||||
| chr2:17693192 | C | T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2678+1960G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693192 | |||||||
| chr2:17693265 | G | A | 6 | a0001c0001t0002g0006 a0001c0001t0002g0102 a0001c0001t0002g0115 others(3): Show |
7 | HG00408.hp2 HG00438.hp2 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+1887C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693265 | |||||||
| chr2:17693311 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2678+1841A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693311 | |||||||
| chr2:17693378 | A | C | 1 | a0001c0001t0017g0242 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.2678+1774T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693378 | |||||||
| chr2:17693424 | T | C | 3 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223 |
3 | HG01891.hp2 HG03195.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2678+1728A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693424 | |||||||
| chr2:17693439 | A | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2678+1713T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693439 | |||||||
| chr2:17693469 | C | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2678+1683G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693469 | |||||||
| chr2:17693473 | C | T | 2 | a0001c0001t0008g0213 a0001c0001t0008g0214 |
2 | HG01433.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.2678+1679G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693473 | |||||||
| chr2:17693956 | C | T | 34 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(31): Show |
34 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(31): Show |
intron_variant | MODIFIER | c.2678+1196G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693956 | |||||||
| chr2:17693957 | G | A | 2 | a0001c0001t0002g0120 a0001c0001t0002g0123 |
2 | HG00280.hp1 HG02055.hp2 |
intron_variant | MODIFIER | c.2678+1195C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17693957 | |||||||
| chr2:17694000 | C | CA | 13 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0002g0015 others(10): Show |
14 | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(11): Show |
intron_variant | MODIFIER | c.2678+1151dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694000 | |||||||
| chr2:17694000 | CA | C | 20 | a0001c0001t0002g0073 a0001c0001t0004g0004 a0001c0001t0004g0023 others(17): Show |
21 | HG00639.hp1 HG01168.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.2678+1151delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694000 | |||||||
| chr2:17694020 | AAAAAG | A | 58 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(55): Show |
61 | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(58): Show |
intron_variant | MODIFIER | c.2678+1127_2678+113 others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694020 | |||||||
| chr2:17694021 | AAAAG | A | 49 | a0001c0001t0001g0148 a0001c0001t0002g0215 a0001c0001t0005g0239 others(46): Show |
53 | HG00280.hp2 HG00323.hp1 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.2678+1127_2678+113 others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694021 | |||||||
| chr2:17694022 | AAAG | A | 5 | a0001c0006t0010g0012 a0002c0003t0001g0155 a0002c0004t0002g0183 others(2): Show |
5 | HG01069.hp1 HG01175.hp2 HG01516.hp1 others(2): Show |
intron_variant | MODIFIER | c.2678+1127_2678+112 others(7): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694022 | |||||||
| chr2:17694206 | G | A | 1 | a0001c0001t0003g0113 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2678+946C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694206 | |||||||
| chr2:17694456 | A | G | 1 | a0001c0001t0003g0075 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2678+696T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694456 | |||||||
| chr2:17694537 | T | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2678+615A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694537 | |||||||
| chr2:17694570 | T | C | 42 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0151 others(39): Show |
45 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(42): Show |
intron_variant | MODIFIER | c.2678+582A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694570 | |||||||
| chr2:17694693 | A | G | 16 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(13): Show |
17 | HG00621.hp1 HG00639.hp1 NA18945.hp1 others(14): Show |
intron_variant | MODIFIER | c.2678+459T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694693 | |||||||
| chr2:17694735 | A | G | 46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2678+417T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694735 | |||||||
| chr2:17694736 | G | T | 46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2678+416C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694736 | |||||||
| chr2:17694737 | A | T | 46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2678+415T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694737 | |||||||
| chr2:17694738 | G | T | 46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2678+414C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694738 | |||||||
| chr2:17694739 | C | T | 46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2678+413G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694739 | |||||||
| chr2:17694741 | T | TACTGATT others(5): Show |
46 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2678+410_2678+411i others(14): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694741 | |||||||
| chr2:17694924 | G | A | 1 | a0001c0001t0003g0093 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.2678+228C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694924 | |||||||
| chr2:17694984 | AG | A | 7 | a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0089 others(4): Show |
7 | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+167delC | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694984 | |||||||
| chr2:17694986 | G | C | 7 | a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0089 others(4): Show |
7 | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+166C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694986 | |||||||
| chr2:17694988 | T | A | 7 | a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0089 others(4): Show |
7 | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+164A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694988 | |||||||
| chr2:17694989 | A | T | 7 | a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0089 others(4): Show |
7 | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+163T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694989 | |||||||
| chr2:17694992 | A | T | 7 | a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0089 others(4): Show |
7 | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+160T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694992 | |||||||
| chr2:17694994 | T | A | 7 | a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0089 others(4): Show |
7 | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+158A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694994 | |||||||
| chr2:17694997 | T | TG | 7 | a0001c0001t0003g0044 a0001c0001t0003g0053 a0001c0001t0003g0089 others(4): Show |
7 | HG00099.hp1 HG01081.hp1 HG01256.hp2 others(4): Show |
intron_variant | MODIFIER | c.2678+154_2678+155i others(3): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 23/27 | chr2 | 17694997 | |||||||
| chr2:17695442 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2533-145A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 22/27 | chr2 | 17695442 | |||||||
| chr2:17695596 | C | T | 1 | a0003c0002t0001g0199 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.2533-299G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 22/27 | chr2 | 17695596 | |||||||
| chr2:17695813 | T | C | 7 | a0003c0002t0001g0157 a0003c0002t0001g0162 a0003c0002t0001g0165 others(4): Show |
7 | HG00323.hp1 HG00738.hp2 HG01192.hp2 others(4): Show |
intron_variant | MODIFIER | c.2532+476A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 22/27 | chr2 | 17695813 | |||||||
| chr2:17695838 | T | C | 69 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(66): Show |
76 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(73): Show |
intron_variant | MODIFIER | c.2532+451A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 22/27 | chr2 | 17695838 | |||||||
| chr2:17695855 | T | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2532+434A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 22/27 | chr2 | 17695855 | |||||||
| chr2:17696506 | A | C | 1 | a0001c0001t0003g0075 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.2395-80T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696506 | |||||||
| chr2:17696547 | A | G | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG02258.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.2395-121T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696547 | |||||||
| chr2:17696611 | AT | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2395-186delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696611 | |||||||
| chr2:17696676 | T | G | 1 | a0001c0001t0003g0086 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.2395-250A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696676 | |||||||
| chr2:17696780 | G | C | 2 | a0003c0002t0001g0011 a0003c0002t0001g0188 |
3 | HG01109.hp1 HG01981.hp1 HG02004.hp2 |
intron_variant | MODIFIER | c.2395-354C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696780 | |||||||
| chr2:17696787 | AG | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2395-362delC | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696787 | |||||||
| chr2:17696945 | G | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2395-519C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696945 | |||||||
| chr2:17696977 | G | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2395-551C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17696977 | |||||||
| chr2:17697066 | C | T | 2 | a0002c0003t0001g0144 a0002c0003t0001g0145 |
2 | HG02559.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.2395-640G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697066 | |||||||
| chr2:17697279 | G | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2395-853C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697279 | |||||||
| chr2:17697342 | A | C | 1 | a0001c0001t0003g0113 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2395-916T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697342 | |||||||
| chr2:17697686 | G | A | 1 | a0001c0001t0002g0202 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.2395-1260C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697686 | |||||||
| chr2:17697687 | C | T | 1 | a0001c0001t0002g0119 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2395-1261G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697687 | |||||||
| chr2:17697805 | G | A | 47 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0151 others(44): Show |
51 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(48): Show |
intron_variant | MODIFIER | c.2395-1379C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697805 | |||||||
| chr2:17697876 | T | C | 3 | a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0083 |
3 | HG02074.hp2 HG02129.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.2395-1450A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697876 | |||||||
| chr2:17697969 | G | A | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2395-1543C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17697969 | |||||||
| chr2:17698144 | T | C | 117 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(114): Show |
124 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.2395-1718A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698144 | |||||||
| chr2:17698289 | A | T | 46 | a0001c0001t0001g0171 a0001c0001t0002g0174 a0001c0001t0002g0175 others(43): Show |
46 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(43): Show |
intron_variant | MODIFIER | c.2395-1863T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698289 | |||||||
| chr2:17698636 | A | T | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2394+1572T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698636 | |||||||
| chr2:17698667 | T | C | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.2394+1541A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698667 | |||||||
| chr2:17698742 | T | C | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.2394+1466A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698742 | |||||||
| chr2:17698830 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2394+1378C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698830 | |||||||
| chr2:17698831 | T | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2394+1377A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698831 | |||||||
| chr2:17698852 | T | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2394+1356A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17698852 | |||||||
| chr2:17699047 | C | A | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2394+1161G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699047 | |||||||
| chr2:17699263 | C | T | 1 | a0001c0001t0006g0043 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2394+945G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699263 | |||||||
| chr2:17699328 | A | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2394+880T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699328 | |||||||
| chr2:17699392 | G | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2394+816C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699392 | |||||||
| chr2:17699453 | C | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2394+755G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699453 | |||||||
| chr2:17699688 | G | GGATATTG others(1): Show |
21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2394+519_2394+520i others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699688 | |||||||
| chr2:17699694 | A | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2394+514T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699694 | |||||||
| chr2:17699695 | C | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2394+513G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699695 | |||||||
| chr2:17699697 | A | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2394+511T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699697 | |||||||
| chr2:17699726 | A | G | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.2394+482T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699726 | |||||||
| chr2:17699731 | G | A | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2394+477C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699731 | |||||||
| chr2:17699886 | C | A | 1 | a0001c0001t0005g0239 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2394+322G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699886 | |||||||
| chr2:17699916 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2394+292G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17699916 | |||||||
| chr2:17700182 | C | T | 1 | a0001c0001t0001g0018 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2394+26G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 21/27 | chr2 | 17700182 | |||||||
| chr2:17700504 | T | TAGAA | 23 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0004g0004 others(20): Show |
25 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(22): Show |
intron_variant | MODIFIER | c.2224-130_2224-127d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17700504 | |||||||
| chr2:17700514 | G | T | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.2224-136C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17700514 | |||||||
| chr2:17700721 | T | C | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2224-343A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17700721 | |||||||
| chr2:17700819 | G | A | 62 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(59): Show |
66 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(63): Show |
intron_variant | MODIFIER | c.2224-441C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17700819 | |||||||
| chr2:17701027 | G | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2224-649C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701027 | |||||||
| chr2:17701033 | AAAT | A | 86 | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0014 others(83): Show |
87 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(84): Show |
intron_variant | MODIFIER | c.2224-658_2224-656d others(5): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701033 | |||||||
| chr2:17701033 | AAATAAT | A | 48 | a0001c0001t0002g0204 a0002c0003t0001g0008 a0002c0003t0001g0009 others(45): Show |
52 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(49): Show |
intron_variant | MODIFIER | c.2224-661_2224-656d others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701033 | |||||||
| chr2:17701033 | AAATAATA others(2): Show |
A | 90 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show |
96 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(93): Show |
intron_variant | MODIFIER | c.2224-664_2224-656d others(11): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701033 | |||||||
| chr2:17701095 | G | A | 1 | a0001c0001t0003g0096 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.2224-717C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701095 | |||||||
| chr2:17701219 | T | C | 1 | a0001c0001t0002g0118 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2223+610A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701219 | |||||||
| chr2:17701382 | C | T | 172 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(169): Show |
184 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(181): Show |
intron_variant | MODIFIER | c.2223+447G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701382 | |||||||
| chr2:17701388 | T | A | 172 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(169): Show |
184 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(181): Show |
intron_variant | MODIFIER | c.2223+441A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701388 | |||||||
| chr2:17701409 | T | G | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2223+420A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701409 | |||||||
| chr2:17701428 | CAA | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2223+399_2223+400d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701428 | |||||||
| chr2:17701461 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2223+368G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701461 | |||||||
| chr2:17701726 | C | A | 1 | a0001c0001t0001g0105 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2223+103G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 20/27 | chr2 | 17701726 | |||||||
| chr2:17701939 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2143-30G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17701939 | |||||||
| chr2:17701951 | T | A | 47 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0151 others(44): Show |
51 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(48): Show |
intron_variant | MODIFIER | c.2143-42A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17701951 | |||||||
| chr2:17702184 | T | C | 116 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(113): Show |
123 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(120): Show |
intron_variant | MODIFIER | c.2143-275A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702184 | |||||||
| chr2:17702262 | G | C | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2143-353C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702262 | |||||||
| chr2:17702327 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2143-418A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702327 | |||||||
| chr2:17702366 | GTATA | G | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2143-461_2143-458d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702366 | |||||||
| chr2:17702609 | G | A | 1 | a0001c0001t0001g0018 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.2142+548C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702609 | |||||||
| chr2:17702730 | T | A | 1 | a0001c0001t0003g0097 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.2142+427A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702730 | |||||||
| chr2:17702778 | T | C | 1 | a0001c0001t0003g0067 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2142+379A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702778 | |||||||
| chr2:17702858 | C | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2142+299G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702858 | |||||||
| chr2:17702907 | C | T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2142+250G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702907 | |||||||
| chr2:17702991 | C | T | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2142+166G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17702991 | |||||||
| chr2:17703103 | C | T | 4 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223 others(1): Show |
4 | HG01891.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.2142+54G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17703103 | |||||||
| chr2:17703104 | G | A | 2 | a0001c0001t0004g0033 a0001c0001t0004g0036 |
2 | NA18945.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.2142+53C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17703104 | |||||||
| chr2:17703107 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.2142+50C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 19/27 | chr2 | 17703107 | |||||||
| chr2:17703315 | G | A | 25 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(22): Show |
28 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(25): Show |
intron_variant | MODIFIER | c.2007-23C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703315 | |||||||
| chr2:17703525 | T | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2007-233A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703525 | |||||||
| chr2:17703545 | G | T | 1 | a0001c0001t0002g0227 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2007-253C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703545 | |||||||
| chr2:17703558 | TG | T | 27 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(24): Show |
29 | HG00621.hp1 HG00639.hp1 HG01891.hp1 others(26): Show |
intron_variant | MODIFIER | c.2007-267delC | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703558 | |||||||
| chr2:17703713 | C | A | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2007-421G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703713 | |||||||
| chr2:17703802 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2007-510A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703802 | |||||||
| chr2:17703824 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2007-532A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703824 | |||||||
| chr2:17703830 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2007-538C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17703830 | |||||||
| chr2:17704360 | G | A | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2007-1068C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704360 | |||||||
| chr2:17704410 | G | C | 1 | a0001c0001t0003g0097 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.2007-1118C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704410 | |||||||
| chr2:17704430 | A | G | 1 | a0001c0001t0013g0106 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.2007-1138T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704430 | |||||||
| chr2:17704444 | A | G | 1 | a0001c0001t0005g0232 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2007-1152T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704444 | |||||||
| chr2:17704471 | C | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2007-1179G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704471 | |||||||
| chr2:17704587 | G | A | 1 | a0001c0001t0002g0128 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.2007-1295C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704587 | |||||||
| chr2:17704694 | G | C | 2 | a0003c0002t0001g0165 a0003c0002t0001g0167 |
2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.2007-1402C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704694 | |||||||
| chr2:17704819 | G | A | 1 | a0001c0001t0005g0232 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2007-1527C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704819 | |||||||
| chr2:17704957 | TA | T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2007-1666delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17704957 | |||||||
| chr2:17705115 | G | A | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.2007-1823C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705115 | |||||||
| chr2:17705219 | C | T | 1 | a0001c0001t0002g0209 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2007-1927G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705219 | |||||||
| chr2:17705348 | G | A | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2006+1871C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705348 | |||||||
| chr2:17705349 | G | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2006+1870C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705349 | |||||||
| chr2:17705386 | T | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2006+1833A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705386 | |||||||
| chr2:17705473 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2006+1746G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705473 | |||||||
| chr2:17705605 | G | C | 1 | a0001c0001t0003g0056 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2006+1614C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705605 | |||||||
| chr2:17705634 | C | T | 62 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(59): Show |
66 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(63): Show |
intron_variant | MODIFIER | c.2006+1585G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705634 | |||||||
| chr2:17705649 | A | T | 1 | a0001c0001t0002g0209 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2006+1570T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705649 | |||||||
| chr2:17705782 | C | T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2006+1437G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705782 | |||||||
| chr2:17705819 | A | C | 1 | a0002c0003t0001g0163 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.2006+1400T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17705819 | |||||||
| chr2:17706196 | A | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.2006+1023T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706196 | |||||||
| chr2:17706281 | G | A | 1 | a0001c0001t0003g0053 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2006+938C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706281 | |||||||
| chr2:17706510 | TTC | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2006+707_2006+708d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706510 | |||||||
| chr2:17706512 | CT | C | 72 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(69): Show |
80 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.2006+706delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706512 | |||||||
| chr2:17706513 | T | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.2006+706A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706513 | |||||||
| chr2:17706628 | G | A | 6 | a0002c0003t0001g0009 a0002c0003t0001g0152 a0002c0003t0001g0163 others(3): Show |
7 | HG00280.hp2 HG01168.hp2 HG01258.hp1 others(4): Show |
intron_variant | MODIFIER | c.2006+591C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706628 | |||||||
| chr2:17706642 | A | T | 1 | a0002c0003t0001g0163 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.2006+577T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706642 | |||||||
| chr2:17706783 | G | A | 67 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(64): Show |
74 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(71): Show |
intron_variant | MODIFIER | c.2006+436C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706783 | |||||||
| chr2:17706848 | G | C | 1 | a0001c0001t0002g0228 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.2006+371C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706848 | |||||||
| chr2:17706886 | T | C | 1 | a0001c0001t0002g0216 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2006+333A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17706886 | |||||||
| chr2:17707100 | G | A | 1 | a0001c0001t0005g0232 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2006+119C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17707100 | |||||||
| chr2:17707166 | A | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2006+53T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17707166 | |||||||
| chr2:17707190 | G | A | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.2006+29C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 18/27 | chr2 | 17707190 | |||||||
| chr2:17707571 | TAA | T | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1846-194_1846-193d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17707571 | |||||||
| chr2:17707606 | C | T | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1846-227G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17707606 | |||||||
| chr2:17707811 | G | C | 1 | a0001c0001t0004g0026 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1846-432C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17707811 | |||||||
| chr2:17707997 | T | C | 1 | a0001c0001t0003g0097 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.1846-618A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17707997 | |||||||
| chr2:17707997 | TACAC | T | 4 | a0001c0001t0004g0025 a0001c0006t0010g0012 a0002c0003t0001g0152 others(1): Show |
4 | HG01069.hp1 HG01517.hp2 HG03239.hp2 others(1): Show |
intron_variant | MODIFIER | c.1846-622_1846-619d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17707997 | |||||||
| chr2:17707997 | TACACAC | T | 136 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(133): Show |
145 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(142): Show |
intron_variant | MODIFIER | c.1846-624_1846-619d others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17707997 | |||||||
| chr2:17708001 | C | T | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1846-622G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708001 | |||||||
| chr2:17708003 | C | T | 3 | a0001c0001t0004g0025 a0002c0003t0001g0152 a0002c0003t0001g0169 |
3 | HG01517.hp2 HG03239.hp2 NA18968.hp1 |
intron_variant | MODIFIER | c.1846-624G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708003 | |||||||
| chr2:17708005 | C | T | 135 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(132): Show |
143 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(140): Show |
intron_variant | MODIFIER | c.1846-626G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708005 | |||||||
| chr2:17708007 | C | T | 22 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(19): Show |
24 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(21): Show |
intron_variant | MODIFIER | c.1846-628G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708007 | |||||||
| chr2:17708108 | G | A | 2 | a0001c0001t0002g0217 a0001c0001t0002g0218 |
2 | HG01496.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1845+531C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708108 | |||||||
| chr2:17708192 | C | T | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1845+447G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708192 | |||||||
| chr2:17708305 | A | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1845+334T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708305 | |||||||
| chr2:17708311 | G | A | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1845+328C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708311 | |||||||
| chr2:17708434 | G | C | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.1845+205C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708434 | |||||||
| chr2:17708438 | A | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.1845+201T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708438 | |||||||
| chr2:17708524 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1845+115A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708524 | |||||||
| chr2:17708589 | T | C | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1845+50A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 17/27 | chr2 | 17708589 | |||||||
| chr2:17708778 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1731-25A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17708778 | |||||||
| chr2:17708824 | G | GTA | 53 | a0001c0001t0001g0147 a0001c0001t0002g0174 a0001c0001t0002g0175 others(50): Show |
55 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(52): Show |
intron_variant | MODIFIER | c.1731-73_1731-72dup others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17708824 | |||||||
| chr2:17708824 | G | GTATA | 72 | a0001c0001t0001g0143 a0001c0001t0001g0171 a0001c0001t0002g0203 others(69): Show |
76 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(73): Show |
intron_variant | MODIFIER | c.1731-75_1731-72dup others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17708824 | |||||||
| chr2:17708824 | G | GTATATA | 9 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0139 others(6): Show |
10 | HG01109.hp2 HG02258.hp2 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.1731-77_1731-72dup others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17708824 | |||||||
| chr2:17708824 | G | GTGTA | 7 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(4): Show |
10 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.1731-72_1731-71ins others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17708824 | |||||||
| chr2:17708837 | A | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1731-84T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17708837 | |||||||
| chr2:17708857 | T | A | 6 | a0001c0001t0002g0006 a0001c0001t0002g0102 a0001c0001t0002g0115 others(3): Show |
7 | HG00408.hp2 HG00438.hp2 HG02040.hp2 others(4): Show |
intron_variant | MODIFIER | c.1731-104A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17708857 | |||||||
| chr2:17709038 | T | C | 1 | a0001c0001t0003g0097 | 1 | NA18992.hp2 | intron_variant | MODIFIER | c.1731-285A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709038 | |||||||
| chr2:17709103 | C | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.1731-350G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709103 | |||||||
| chr2:17709230 | TAC | T | 19 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(16): Show |
19 | HG00639.hp2 HG01074.hp1 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.1731-479_1731-478d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709230 | |||||||
| chr2:17709319 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1731-566A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709319 | |||||||
| chr2:17709375 | T | A | 1 | a0001c0001t0003g0089 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.1731-622A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709375 | |||||||
| chr2:17709498 | A | G | 25 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(22): Show |
28 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(25): Show |
intron_variant | MODIFIER | c.1731-745T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709498 | |||||||
| chr2:17709603 | T | C | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1731-850A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709603 | |||||||
| chr2:17709747 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.1731-994C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709747 | |||||||
| chr2:17709776 | A | G | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1731-1023T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709776 | |||||||
| chr2:17709855 | T | A | 1 | a0001c0001t0001g0171 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1731-1102A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709855 | |||||||
| chr2:17709899 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1731-1146A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709899 | |||||||
| chr2:17709920 | T | C | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1731-1167A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17709920 | |||||||
| chr2:17710216 | A | G | 11 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(8): Show |
11 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.1731-1463T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17710216 | |||||||
| chr2:17710712 | T | C | 1 | a0001c0001t0006g0042 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.1731-1959A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17710712 | |||||||
| chr2:17711047 | G | C | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.1731-2294C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711047 | |||||||
| chr2:17711195 | G | A | 2 | a0001c0001t0002g0159 a0001c0001t0003g0101 |
2 | HG00642.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.1731-2442C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711195 | |||||||
| chr2:17711289 | A | G | 1 | a0001c0001t0002g0208 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1731-2536T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711289 | |||||||
| chr2:17711434 | A | C | 6 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1731-2681T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711434 | |||||||
| chr2:17711475 | G | A | 1 | a0001c0001t0003g0093 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.1731-2722C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711475 | |||||||
| chr2:17711816 | A | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1730+3045T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711816 | |||||||
| chr2:17711821 | A | G | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.1730+3040T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711821 | |||||||
| chr2:17711980 | A | T | 1 | a0001c0001t0002g0227 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1730+2881T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17711980 | |||||||
| chr2:17712115 | A | G | 1 | a0003c0002t0001g0188 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1730+2746T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17712115 | |||||||
| chr2:17712210 | G | A | 6 | a0003c0002t0001g0157 a0003c0002t0001g0162 a0003c0002t0001g0165 others(3): Show |
6 | HG00323.hp1 HG00738.hp2 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.1730+2651C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17712210 | |||||||
| chr2:17712277 | C | T | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1730+2584G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17712277 | |||||||
| chr2:17712413 | T | G | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.1730+2448A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17712413 | |||||||
| chr2:17712607 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1730+2254A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17712607 | |||||||
| chr2:17712638 | G | T | 30 | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(27): Show |
30 | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.1730+2223C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17712638 | |||||||
| chr2:17713000 | C | G | 2 | a0001c0001t0005g0236 a0001c0001t0005g0239 |
2 | HG01884.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1730+1861G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713000 | |||||||
| chr2:17713081 | C | T | 45 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(42): Show |
45 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.1730+1780G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713081 | |||||||
| chr2:17713083 | T | C | 1 | a0001c0001t0002g0221 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.1730+1778A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713083 | |||||||
| chr2:17713088 | C | T | 11 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(8): Show |
11 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.1730+1773G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713088 | |||||||
| chr2:17713194 | C | T | 66 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(63): Show |
70 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(67): Show |
intron_variant | MODIFIER | c.1730+1667G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713194 | |||||||
| chr2:17713475 | A | C | 1 | a0001c0001t0005g0240 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1730+1386T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713475 | |||||||
| chr2:17713737 | T | C | 2 | a0001c0001t0002g0200 a0001c0001t0002g0201 |
2 | HG01069.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.1730+1124A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713737 | |||||||
| chr2:17713875 | G | T | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1730+986C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713875 | |||||||
| chr2:17713950 | A | G | 11 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(8): Show |
11 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.1730+911T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17713950 | |||||||
| chr2:17714029 | G | A | 1 | a0001c0001t0017g0242 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.1730+832C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714029 | |||||||
| chr2:17714083 | GTTTTTTT others(3): Show |
G | 1 | a0001c0001t0004g0039 | 1 | NA19006.hp1 | intron_variant | MODIFIER | c.1730+768_1730+777d others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714083 | |||||||
| chr2:17714092 | GT | G | 82 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0142 others(79): Show |
89 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(86): Show |
intron_variant | MODIFIER | c.1730+768delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714092 | |||||||
| chr2:17714092 | GTT | G | 59 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(56): Show |
62 | HG00140.hp1 HG00639.hp2 HG01069.hp1 others(59): Show |
intron_variant | MODIFIER | c.1730+767_1730+768d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714092 | |||||||
| chr2:17714198 | C | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1730+663G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714198 | |||||||
| chr2:17714233 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1730+628G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714233 | |||||||
| chr2:17714237 | A | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1730+624T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714237 | |||||||
| chr2:17714378 | G | A | 6 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.1730+483C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714378 | |||||||
| chr2:17714626 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1730+235A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714626 | |||||||
| chr2:17714670 | C | T | 118 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(115): Show |
125 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.1730+191G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714670 | |||||||
| chr2:17714708 | C | T | 172 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(169): Show |
184 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(181): Show |
intron_variant | MODIFIER | c.1730+153G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 16/27 | chr2 | 17714708 | |||||||
| chr2:17715123 | ATCC | A | 30 | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(27): Show |
30 | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.1526-61_1526-59del others(3): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715123 | |||||||
| chr2:17715147 | T | C | 2 | a0003c0002t0001g0192 a0003c0002t0001g0197 |
2 | NA19057.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.1526-82A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715147 | |||||||
| chr2:17715186 | T | A | 25 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(22): Show |
28 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(25): Show |
intron_variant | MODIFIER | c.1526-121A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715186 | |||||||
| chr2:17715267 | G | A | 1 | a0001c0001t0001g0143 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1526-202C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715267 | |||||||
| chr2:17715443 | C | T | 6 | a0001c0001t0003g0055 a0002c0004t0002g0010 a0002c0004t0002g0179 others(3): Show |
7 | HG01099.hp2 HG01243.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.1526-378G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715443 | |||||||
| chr2:17715638 | T | C | 1 | a0001c0001t0002g0216 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.1525+448A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715638 | |||||||
| chr2:17715645 | G | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.1525+441C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715645 | |||||||
| chr2:17715815 | T | C | 3 | a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0103 |
3 | HG01358.hp2 HG02273.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.1525+271A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715815 | |||||||
| chr2:17715880 | A | G | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1525+206T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715880 | |||||||
| chr2:17715994 | A | T | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1525+92T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17715994 | |||||||
| chr2:17716012 | CTTCA | C | 10 | a0001c0001t0003g0046 a0001c0001t0003g0060 a0001c0001t0003g0069 others(7): Show |
10 | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(7): Show |
intron_variant | MODIFIER | c.1525+70_1525+73del others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 15/27 | chr2 | 17716012 | |||||||
| chr2:17716491 | C | T | 1 | a0001c0001t0002g0118 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1347-227G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 14/27 | chr2 | 17716491 | |||||||
| chr2:17716552 | G | C | 48 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0174 others(45): Show |
48 | HG00140.hp1 HG00639.hp2 HG01069.hp1 others(45): Show |
intron_variant | MODIFIER | c.1346+189C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 14/27 | chr2 | 17716552 | |||||||
| chr2:17716631 | A | G | 5 | a0002c0004t0002g0010 a0002c0004t0002g0179 a0002c0004t0002g0183 others(2): Show |
6 | HG01099.hp2 HG02055.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.1346+110T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 14/27 | chr2 | 17716631 | |||||||
| chr2:17717059 | C | T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.1181+29G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 13/27 | chr2 | 17717059 | |||||||
| chr2:17717082 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
splice_region_variant&intron_variant | LOW | c.1181+6G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 13/27 | chr2 | 17717082 | |||||||
| chr2:17717083 | C | T | 1 | a0001c0001t0003g0113 | 1 | HG03669.hp1 | splice_region_variant&intron_variant | LOW | c.1181+5G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 13/27 | chr2 | 17717083 | |||||||
| chr2:17717397 | T | C | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1093-221A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717397 | |||||||
| chr2:17717447 | G | A | 56 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(53): Show |
60 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(57): Show |
intron_variant | MODIFIER | c.1093-271C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717447 | |||||||
| chr2:17717468 | T | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.1093-292A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717468 | |||||||
| chr2:17717686 | A | T | 117 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(114): Show |
124 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.1092+391T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717686 | |||||||
| chr2:17717721 | C | T | 1 | a0001c0001t0003g0113 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1092+356G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717721 | |||||||
| chr2:17717725 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1092+352A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717725 | |||||||
| chr2:17717835 | T | C | 3 | a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0016g0138 |
3 | NA18953.hp1 NA18984.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.1092+242A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717835 | |||||||
| chr2:17717947 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1092+130A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17717947 | |||||||
| chr2:17718024 | C | T | 1 | a0001c0001t0002g0119 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1092+53G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 12/27 | chr2 | 17718024 | |||||||
| chr2:17718291 | C | G | 14 | a0003c0002t0001g0011 a0003c0002t0001g0187 a0003c0002t0001g0188 others(11): Show |
15 | HG00140.hp2 HG00735.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.946-68G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17718291 | |||||||
| chr2:17718317 | T | G | 117 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(114): Show |
124 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.946-94A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17718317 | |||||||
| chr2:17718481 | G | T | 1 | a0003c0002t0001g0188 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.946-258C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17718481 | |||||||
| chr2:17718485 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.946-262A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17718485 | |||||||
| chr2:17718765 | T | G | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.946-542A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17718765 | |||||||
| chr2:17718792 | G | A | 1 | a0001c0001t0002g0219 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.946-569C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17718792 | |||||||
| chr2:17718827 | T | C | 1 | a0002c0003t0001g0163 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.946-604A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17718827 | |||||||
| chr2:17719064 | C | A | 1 | a0002c0003t0001g0145 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.946-841G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719064 | |||||||
| chr2:17719092 | G | C | 1 | a0001c0001t0006g0042 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.946-869C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719092 | |||||||
| chr2:17719225 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.946-1002G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719225 | |||||||
| chr2:17719285 | C | T | 1 | a0001c0001t0001g0148 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.946-1062G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719285 | |||||||
| chr2:17719611 | A | C | 1 | a0003c0002t0001g0178 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.945+1329T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719611 | |||||||
| chr2:17719714 | G | A | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.945+1226C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719714 | |||||||
| chr2:17719811 | T | C | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.945+1129A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719811 | |||||||
| chr2:17719830 | T | C | 1 | a0003c0002t0001g0188 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.945+1110A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17719830 | |||||||
| chr2:17720094 | C | T | 11 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(8): Show |
11 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.945+846G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720094 | |||||||
| chr2:17720105 | T | C | 11 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(8): Show |
11 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.945+835A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720105 | |||||||
| chr2:17720218 | G | A | 48 | a0001c0001t0003g0041 a0001c0001t0003g0044 a0001c0001t0003g0045 others(45): Show |
48 | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(45): Show |
intron_variant | MODIFIER | c.945+722C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720218 | |||||||
| chr2:17720268 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.945+672A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720268 | |||||||
| chr2:17720642 | G | A | 5 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(2): Show |
5 | HG02615.hp1 HG02622.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.945+298C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720642 | |||||||
| chr2:17720700 | T | C | 1 | a0001c0001t0001g0142 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.945+240A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720700 | |||||||
| chr2:17720745 | A | C | 25 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0013 others(22): Show |
27 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(24): Show |
intron_variant | MODIFIER | c.945+195T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720745 | |||||||
| chr2:17720815 | C | A | 7 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 others(4): Show |
7 | HG01261.hp2 HG01891.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.945+125G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720815 | |||||||
| chr2:17720903 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.945+37A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 11/27 | chr2 | 17720903 | |||||||
| chr2:17721089 | A | G | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.847-51T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 10/27 | chr2 | 17721089 | |||||||
| chr2:17721103 | T | G | 4 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show |
4 | HG01109.hp2 HG02886.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.846+39A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 10/27 | chr2 | 17721103 | |||||||
| chr2:17721114 | C | G | 45 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(42): Show |
45 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.846+28G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 10/27 | chr2 | 17721114 | |||||||
| chr2:17721464 | A | T | 1 | a0001c0001t0003g0056 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.727-203T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17721464 | |||||||
| chr2:17721699 | C | CT | 46 | a0001c0001t0001g0140 a0001c0001t0001g0171 a0001c0001t0002g0218 others(43): Show |
50 | HG00140.hp2 HG00280.hp2 HG00735.hp2 others(47): Show |
intron_variant | MODIFIER | c.727-439dupA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17721699 | |||||||
| chr2:17721699 | CT | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(3): Show |
8 | HG02572.hp2 HG02717.hp2 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.727-439delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17721699 | |||||||
| chr2:17721779 | T | C | 1 | a0001c0001t0003g0086 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.727-518A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17721779 | |||||||
| chr2:17721852 | C | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.727-591G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17721852 | |||||||
| chr2:17721919 | C | T | 1 | a0001c0001t0004g0077 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.727-658G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17721919 | |||||||
| chr2:17722117 | A | C | 1 | a0002c0003t0001g0152 | 1 | HG01517.hp2 | intron_variant | MODIFIER | c.727-856T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17722117 | |||||||
| chr2:17722355 | A | G | 49 | a0001c0001t0001g0171 a0002c0003t0001g0008 a0002c0003t0001g0009 others(46): Show |
53 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(50): Show |
intron_variant | MODIFIER | c.727-1094T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17722355 | |||||||
| chr2:17722368 | A | G | 1 | a0001c0001t0003g0059 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.727-1107T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17722368 | |||||||
| chr2:17722610 | T | C | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.727-1349A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17722610 | |||||||
| chr2:17722764 | T | C | 4 | a0001c0001t0003g0041 a0001c0001t0003g0050 a0001c0001t0003g0096 others(1): Show |
4 | HG00423.hp1 NA18971.hp2 NA18993.hp2 others(1): Show |
intron_variant | MODIFIER | c.727-1503A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17722764 | |||||||
| chr2:17722999 | TA | T | 49 | a0001c0001t0001g0148 a0001c0001t0002g0174 a0001c0001t0002g0175 others(46): Show |
49 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(46): Show |
intron_variant | MODIFIER | c.727-1739delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17722999 | |||||||
| chr2:17723023 | G | A | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.727-1762C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723023 | |||||||
| chr2:17723029 | A | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.727-1768T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723029 | |||||||
| chr2:17723070 | A | C | 70 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(67): Show |
77 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(74): Show |
intron_variant | MODIFIER | c.727-1809T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723070 | |||||||
| chr2:17723107 | GTCAT | G | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.727-1850_727-1847d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723107 | |||||||
| chr2:17723117 | C | T | 6 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | HG01109.hp2 HG02258.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.727-1856G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723117 | |||||||
| chr2:17723427 | C | T | 31 | a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0201 others(28): Show |
31 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.726+1830G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723427 | |||||||
| chr2:17723576 | T | C | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.726+1681A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723576 | |||||||
| chr2:17723578 | A | G | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.726+1679T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723578 | |||||||
| chr2:17723581 | C | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.726+1676G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723581 | |||||||
| chr2:17723606 | T | C | 1 | a0001c0001t0005g0240 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.726+1651A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723606 | |||||||
| chr2:17723833 | T | C | 14 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(11): Show |
15 | HG00621.hp1 NA18945.hp1 NA18946.hp1 others(12): Show |
intron_variant | MODIFIER | c.726+1424A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17723833 | |||||||
| chr2:17724145 | TAC | T | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.726+1110_726+1111d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17724145 | |||||||
| chr2:17724183 | A | G | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.726+1074T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17724183 | |||||||
| chr2:17724209 | T | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.726+1048A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17724209 | |||||||
| chr2:17724522 | C | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.726+735G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17724522 | |||||||
| chr2:17724581 | T | C | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.726+676A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17724581 | |||||||
| chr2:17724611 | G | A | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.726+646C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17724611 | |||||||
| chr2:17724829 | C | T | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.726+428G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 9/27 | chr2 | 17724829 | |||||||
| chr2:17725372 | C | CA | 5 | a0001c0001t0002g0176 a0001c0001t0002g0218 a0001c0001t0003g0058 others(2): Show |
5 | HG01496.hp2 HG03098.hp1 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.625-15dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17725372 | |||||||
| chr2:17725382 | C | T | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.625-24G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17725382 | |||||||
| chr2:17725516 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.625-158A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17725516 | |||||||
| chr2:17725852 | C | A | 5 | a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0037 others(2): Show |
5 | HG02451.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.625-494G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17725852 | |||||||
| chr2:17726087 | T | TA | 32 | a0001c0001t0001g0018 a0001c0001t0001g0139 a0001c0001t0001g0140 others(29): Show |
34 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(31): Show |
intron_variant | MODIFIER | c.624+301dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAA | 7 | a0001c0001t0001g0149 a0001c0001t0002g0119 a0001c0001t0002g0123 others(4): Show |
7 | HG01261.hp1 HG02055.hp2 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.624+300_624+301dup others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAA | 13 | a0001c0001t0003g0072 a0001c0001t0004g0004 a0001c0001t0004g0022 others(10): Show |
14 | HG00423.hp2 HG00621.hp1 HG00639.hp1 others(11): Show |
intron_variant | MODIFIER | c.624+299_624+301dup others(3): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAA | 7 | a0001c0001t0001g0147 a0001c0001t0004g0023 a0001c0001t0004g0025 others(4): Show |
7 | HG03098.hp1 HG03579.hp2 NA18968.hp1 others(4): Show |
intron_variant | MODIFIER | c.624+298_624+301dup others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAA | 10 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0005g0232 others(7): Show |
10 | HG02056.hp1 HG03130.hp1 HG03540.hp2 others(7): Show |
intron_variant | MODIFIER | c.624+296_624+301dup others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(2): Show |
14 | a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0205 others(11): Show |
14 | HG00639.hp2 HG01071.hp2 HG01074.hp1 others(11): Show |
intron_variant | MODIFIER | c.624+293_624+301dup others(9): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(3): Show |
7 | a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 others(4): Show |
7 | HG01069.hp2 HG01070.hp2 HG01261.hp2 others(4): Show |
intron_variant | MODIFIER | c.624+292_624+301dup others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(4): Show |
11 | a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0216 others(8): Show |
11 | HG01433.hp2 HG01891.hp2 HG02145.hp2 others(8): Show |
intron_variant | MODIFIER | c.624+291_624+301dup others(11): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(5): Show |
1 | a0002c0003t0001g0145 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.624+290_624+301dup others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(7): Show |
1 | a0001c0001t0002g0224 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.624+288_624+301dup others(14): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(8): Show |
2 | a0001c0001t0002g0225 a0002c0004t0002g0183 |
2 | HG02055.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.624+287_624+301dup others(15): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(9): Show |
2 | a0002c0004t0002g0010 a0002c0004t0002g0184 |
3 | HG02970.hp2 HG03139.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.624+286_624+301dup others(16): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(15): Show |
1 | a0002c0004t0002g0186 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.624+280_624+301dup others(22): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(21): Show |
1 | a0001c0001t0001g0171 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.624+301_624+302ins others(28): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | T | TAAAAAAA others(37): Show |
1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.624+301_624+302ins others(44): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | TA | T | 11 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0002g0073 others(8): Show |
12 | HG01069.hp1 HG01168.hp1 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.624+301delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | TAA | T | 35 | a0001c0001t0007g0007 a0002c0003t0001g0009 a0002c0003t0001g0151 others(32): Show |
38 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(35): Show |
intron_variant | MODIFIER | c.624+300_624+301del others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | TAAA | T | 5 | a0002c0003t0001g0008 a0002c0003t0001g0153 a0002c0003t0001g0154 others(2): Show |
6 | HG01891.hp1 HG02280.hp2 HG02622.hp2 others(3): Show |
intron_variant | MODIFIER | c.624+299_624+301del others(3): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726087 | TAAAAAAA others(7): Show |
T | 2 | a0001c0001t0004g0037 a0001c0001t0004g0038 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.624+288_624+301del others(14): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726087 | |||||||
| chr2:17726115 | G | T | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.624+274C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726115 | |||||||
| chr2:17726246 | A | G | 31 | a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0201 others(28): Show |
31 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.624+143T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726246 | |||||||
| chr2:17726247 | T | A | 31 | a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0201 others(28): Show |
31 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.624+142A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726247 | |||||||
| chr2:17726248 | C | T | 31 | a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0201 others(28): Show |
31 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.624+141G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726248 | |||||||
| chr2:17726251 | GGAAATT | G | 31 | a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0201 others(28): Show |
31 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.624+132_624+137del others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726251 | |||||||
| chr2:17726252 | G | A | 1 | a0001c0001t0003g0098 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.624+137C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726252 | |||||||
| chr2:17726272 | A | G | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.624+117T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726272 | |||||||
| chr2:17726296 | C | T | 1 | a0001c0001t0003g0081 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.624+93G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 8/27 | chr2 | 17726296 | |||||||
| chr2:17726599 | C | G | 1 | a0001c0001t0004g0025 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.544-130G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17726599 | |||||||
| chr2:17726676 | A | G | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.544-207T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17726676 | |||||||
| chr2:17726779 | C | G | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.544-310G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17726779 | |||||||
| chr2:17726780 | T | G | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.544-311A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17726780 | |||||||
| chr2:17726863 | T | C | 167 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(164): Show |
179 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(176): Show |
intron_variant | MODIFIER | c.544-394A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17726863 | |||||||
| chr2:17727110 | C | T | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.544-641G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727110 | |||||||
| chr2:17727156 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.544-687C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727156 | |||||||
| chr2:17727169 | G | T | 1 | a0001c0001t0001g0171 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.544-700C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727169 | |||||||
| chr2:17727460 | T | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.544-991A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727460 | |||||||
| chr2:17727505 | T | TTA | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.544-1038_544-1037d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727505 | |||||||
| chr2:17727505 | TTA | T | 109 | a0001c0001t0001g0147 a0001c0001t0002g0006 a0001c0001t0002g0014 others(106): Show |
111 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(108): Show |
intron_variant | MODIFIER | c.544-1038_544-1037d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727505 | |||||||
| chr2:17727505 | TTATA | T | 111 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(108): Show |
115 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.544-1040_544-1037d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727505 | |||||||
| chr2:17727505 | TTATATA | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.544-1042_544-1037d others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727505 | |||||||
| chr2:17727520 | T | A | 1 | a0001c0001t0005g0232 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.544-1051A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727520 | |||||||
| chr2:17727526 | T | C | 5 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0147 others(2): Show |
7 | HG01069.hp1 HG02572.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.544-1057A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727526 | |||||||
| chr2:17727614 | A | G | 30 | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(27): Show |
30 | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.544-1145T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727614 | |||||||
| chr2:17727709 | A | G | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.544-1240T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727709 | |||||||
| chr2:17727721 | A | G | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.544-1252T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727721 | |||||||
| chr2:17727832 | G | T | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.544-1363C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727832 | |||||||
| chr2:17727910 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.544-1441A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727910 | |||||||
| chr2:17727959 | C | A | 29 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(26): Show |
34 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(31): Show |
intron_variant | MODIFIER | c.544-1490G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17727959 | |||||||
| chr2:17728003 | T | C | 1 | a0001c0001t0003g0081 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.544-1534A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728003 | |||||||
| chr2:17728208 | G | A | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.544-1739C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728208 | |||||||
| chr2:17728248 | C | A | 1 | a0001c0001t0003g0081 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.544-1779G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728248 | |||||||
| chr2:17728382 | C | T | 23 | a0001c0001t0001g0147 a0001c0001t0004g0004 a0001c0001t0004g0022 others(20): Show |
25 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(22): Show |
intron_variant | MODIFIER | c.544-1913G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728382 | |||||||
| chr2:17728416 | A | G | 1 | a0001c0001t0004g0025 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.544-1947T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728416 | |||||||
| chr2:17728518 | A | C | 1 | a0001c0001t0003g0098 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.544-2049T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728518 | |||||||
| chr2:17728558 | AG | A | 9 | a0001c0001t0003g0054 a0001c0001t0003g0056 a0001c0001t0003g0057 others(6): Show |
9 | NA18953.hp1 NA18968.hp2 NA18979.hp2 others(6): Show |
intron_variant | MODIFIER | c.544-2090delC | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728558 | |||||||
| chr2:17728591 | G | A | 29 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(26): Show |
34 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(31): Show |
intron_variant | MODIFIER | c.544-2122C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728591 | |||||||
| chr2:17728639 | C | G | 2 | a0001c0001t0002g0066 a0001c0001t0002g0073 |
2 | HG01099.hp1 HG01168.hp1 |
intron_variant | MODIFIER | c.544-2170G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728639 | |||||||
| chr2:17728753 | A | AT | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.544-2285dupA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728753 | |||||||
| chr2:17728965 | G | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.543+2113C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728965 | |||||||
| chr2:17728991 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.543+2087G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17728991 | |||||||
| chr2:17729084 | C | T | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(139): Show |
152 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.543+1994G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17729084 | |||||||
| chr2:17729318 | T | A | 1 | a0001c0001t0002g0226 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.543+1760A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17729318 | |||||||
| chr2:17729343 | C | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.543+1735G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17729343 | |||||||
| chr2:17729464 | TAATA | T | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.543+1610_543+1613d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17729464 | |||||||
| chr2:17729659 | G | T | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.543+1419C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17729659 | |||||||
| chr2:17729676 | A | T | 1 | a0001c0001t0003g0072 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.543+1402T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17729676 | |||||||
| chr2:17729895 | T | C | 48 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0151 others(45): Show |
52 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(49): Show |
intron_variant | MODIFIER | c.543+1183A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17729895 | |||||||
| chr2:17730244 | T | C | 1 | a0001c0001t0002g0174 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.543+834A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730244 | |||||||
| chr2:17730246 | T | C | 1 | a0001c0001t0003g0082 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.543+832A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730246 | |||||||
| chr2:17730338 | T | C | 1 | a0001c0001t0002g0218 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.543+740A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730338 | |||||||
| chr2:17730371 | C | T | 2 | a0001c0001t0003g0112 a0001c0001t0014g0064 |
2 | HG00642.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.543+707G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730371 | |||||||
| chr2:17730398 | G | GA | 41 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0142 others(38): Show |
42 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(39): Show |
intron_variant | MODIFIER | c.543+679dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730398 | |||||||
| chr2:17730398 | G | GAA | 6 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.543+678_543+679dup others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730398 | |||||||
| chr2:17730398 | GA | G | 26 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(23): Show |
27 | HG00621.hp1 HG00639.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.543+679delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730398 | |||||||
| chr2:17730580 | G | A | 167 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(164): Show |
179 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(176): Show |
intron_variant | MODIFIER | c.543+498C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730580 | |||||||
| chr2:17730603 | CT | C | 69 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(66): Show |
76 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(73): Show |
intron_variant | MODIFIER | c.543+474delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730603 | |||||||
| chr2:17730747 | C | T | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.543+331G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730747 | |||||||
| chr2:17730751 | C | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.543+327G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730751 | |||||||
| chr2:17730769 | A | AT | 6 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0147 others(3): Show |
7 | HG02572.hp2 HG02896.hp2 HG03130.hp1 others(4): Show |
intron_variant | MODIFIER | c.543+308dupA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730769 | |||||||
| chr2:17730769 | A | ATT | 22 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0004g0004 others(19): Show |
24 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(21): Show |
intron_variant | MODIFIER | c.543+307_543+308dup others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730769 | |||||||
| chr2:17730944 | T | C | 2 | a0001c0001t0001g0003 a0001c0001t0001g0019 |
3 | HG02280.hp1 HG02630.hp1 HG03195.hp1 |
intron_variant | MODIFIER | c.543+134A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17730944 | |||||||
| chr2:17731033 | T | C | 1 | a0004c0008t0012g0193 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.543+45A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17731033 | |||||||
| chr2:17731068 | C | T | 3 | a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0103 |
3 | HG01358.hp2 HG02273.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.543+10G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 7/27 | chr2 | 17731068 | |||||||
| chr2:17731364 | T | A | 1 | a0001c0001t0002g0159 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.482-225A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 6/27 | chr2 | 17731364 | |||||||
| chr2:17731544 | T | C | 4 | a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 others(1): Show |
4 | HG00099.hp1 HG01256.hp2 HG01934.hp2 others(1): Show |
intron_variant | MODIFIER | c.481+197A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 6/27 | chr2 | 17731544 | |||||||
| chr2:17731597 | C | CGT | 6 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.481+142_481+143dup others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 6/27 | chr2 | 17731597 | |||||||
| chr2:17731597 | C | CGTGT | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.481+140_481+143dup others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 6/27 | chr2 | 17731597 | |||||||
| chr2:17731597 | CGT | C | 3 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0003c0002t0001g0194 |
4 | HG02717.hp2 HG03225.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.481+142_481+143del others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 6/27 | chr2 | 17731597 | |||||||
| chr2:17731614 | G | A | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.481+127C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 6/27 | chr2 | 17731614 | |||||||
| chr2:17731669 | C | A | 1 | a0003c0002t0001g0168 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.481+72G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 6/27 | chr2 | 17731669 | |||||||
| chr2:17732048 | G | A | 4 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0223 others(1): Show |
4 | HG01891.hp2 HG03139.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.345-171C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732048 | |||||||
| chr2:17732090 | G | T | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.345-213C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732090 | |||||||
| chr2:17732135 | A | C | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG02258.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.345-258T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732135 | |||||||
| chr2:17732149 | A | G | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.345-272T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732149 | |||||||
| chr2:17732273 | T | G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(2): Show |
8 | HG02257.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.345-396A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732273 | |||||||
| chr2:17732358 | A | T | 6 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | HG01109.hp2 HG02258.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.345-481T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732358 | |||||||
| chr2:17732448 | C | G | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.345-571G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732448 | |||||||
| chr2:17732496 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.345-619G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732496 | |||||||
| chr2:17732677 | C | T | 1 | a0001c0001t0003g0045 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.345-800G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732677 | |||||||
| chr2:17732698 | CA | C | 141 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(138): Show |
151 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(148): Show |
intron_variant | MODIFIER | c.345-822delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732698 | |||||||
| chr2:17732789 | G | T | 110 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(107): Show |
114 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(111): Show |
intron_variant | MODIFIER | c.345-912C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732789 | |||||||
| chr2:17732790 | C | G | 1 | a0001c0001t0003g0074 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.345-913G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732790 | |||||||
| chr2:17732994 | A | T | 1 | a0001c0001t0002g0120 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.345-1117T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17732994 | |||||||
| chr2:17733051 | G | T | 1 | a0001c0001t0002g0128 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.345-1174C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17733051 | |||||||
| chr2:17733180 | G | A | 1 | a0001c0001t0002g0222 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.345-1303C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17733180 | |||||||
| chr2:17733356 | A | G | 30 | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(27): Show |
30 | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.345-1479T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17733356 | |||||||
| chr2:17733359 | G | T | 21 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(18): Show |
22 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(19): Show |
intron_variant | MODIFIER | c.345-1482C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17733359 | |||||||
| chr2:17733540 | G | A | 1 | a0001c0001t0003g0094 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.345-1663C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17733540 | |||||||
| chr2:17733657 | T | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.345-1780A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17733657 | |||||||
| chr2:17733972 | G | C | 30 | a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0201 others(27): Show |
30 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(27): Show |
intron_variant | MODIFIER | c.345-2095C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17733972 | |||||||
| chr2:17734009 | A | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.345-2132T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734009 | |||||||
| chr2:17734061 | T | C | 1 | a0001c0001t0003g0131 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.345-2184A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734061 | |||||||
| chr2:17734095 | C | T | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.345-2218G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734095 | |||||||
| chr2:17734208 | A | G | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.345-2331T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734208 | |||||||
| chr2:17734253 | C | T | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.345-2376G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734253 | |||||||
| chr2:17734460 | TATGAGGG others(96): Show |
T | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.345-2686_345-2584d others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734460 | |||||||
| chr2:17734492 | G | A | 3 | a0001c0001t0003g0071 a0001c0001t0003g0078 a0001c0001t0003g0103 |
3 | HG01358.hp2 HG02273.hp1 NA18989.hp1 |
intron_variant | MODIFIER | c.345-2615C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734492 | |||||||
| chr2:17734564 | A | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.345-2687T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734564 | |||||||
| chr2:17734565 | T | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.345-2688A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734565 | |||||||
| chr2:17734649 | C | G | 20 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(17): Show |
21 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.345-2772G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734649 | |||||||
| chr2:17734731 | CTTTTCTT others(1): Show |
C | 50 | a0001c0001t0001g0171 a0001c0001t0002g0159 a0002c0003t0001g0008 others(47): Show |
54 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(51): Show |
intron_variant | MODIFIER | c.345-2862_345-2855d others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734731 | |||||||
| chr2:17734820 | C | T | 1 | a0001c0001t0002g0159 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.345-2943G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734820 | |||||||
| chr2:17734928 | C | T | 3 | a0001c0001t0002g0065 a0001c0001t0002g0076 a0001c0001t0002g0083 |
3 | HG02074.hp2 HG02129.hp2 HG02155.hp2 |
intron_variant | MODIFIER | c.345-3051G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17734928 | |||||||
| chr2:17735036 | T | C | 2 | a0001c0001t0002g0125 a0001c0001t0002g0126 |
2 | HG01081.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.345-3159A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735036 | |||||||
| chr2:17735115 | C | G | 50 | a0001c0001t0001g0171 a0001c0001t0002g0159 a0002c0003t0001g0008 others(47): Show |
54 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(51): Show |
intron_variant | MODIFIER | c.344+3106G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735115 | |||||||
| chr2:17735115 | CAAACA | C | 22 | a0001c0001t0001g0147 a0001c0001t0004g0004 a0001c0001t0004g0022 others(19): Show |
24 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(21): Show |
intron_variant | MODIFIER | c.344+3101_344+3105d others(7): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735115 | |||||||
| chr2:17735202 | G | A | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.344+3019C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735202 | |||||||
| chr2:17735227 | C | G | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.344+2994G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735227 | |||||||
| chr2:17735257 | A | G | 1 | a0001c0001t0002g0229 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.344+2964T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735257 | |||||||
| chr2:17735283 | G | T | 20 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(17): Show |
21 | HG00621.hp1 HG00639.hp1 HG02451.hp1 others(18): Show |
intron_variant | MODIFIER | c.344+2938C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735283 | |||||||
| chr2:17735366 | C | G | 1 | a0001c0001t0002g0212 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.344+2855G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735366 | |||||||
| chr2:17735553 | T | G | 2 | a0001c0001t0002g0200 a0001c0001t0002g0201 |
2 | HG01069.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.344+2668A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17735553 | |||||||
| chr2:17736008 | G | T | 5 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(2): Show |
5 | HG02615.hp1 HG02622.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.344+2213C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736008 | |||||||
| chr2:17736520 | G | A | 1 | a0001c0001t0001g0143 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.344+1701C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736520 | |||||||
| chr2:17736531 | C | G | 28 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(25): Show |
33 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(30): Show |
intron_variant | MODIFIER | c.344+1690G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736531 | |||||||
| chr2:17736606 | G | A | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG02258.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.344+1615C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736606 | |||||||
| chr2:17736685 | C | G | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.344+1536G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736685 | |||||||
| chr2:17736707 | T | TA | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.344+1513dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736707 | |||||||
| chr2:17736725 | T | A | 1 | a0001c0001t0003g0074 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.344+1496A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736725 | |||||||
| chr2:17736726 | T | A | 1 | a0001c0001t0003g0093 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.344+1495A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736726 | |||||||
| chr2:17736788 | C | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.344+1433G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736788 | |||||||
| chr2:17736871 | CA | C | 64 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(61): Show |
68 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(65): Show |
intron_variant | MODIFIER | c.344+1349delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736871 | |||||||
| chr2:17736965 | T | C | 2 | a0003c0002t0001g0198 a0003c0002t0001g0199 |
2 | HG00140.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.344+1256A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17736965 | |||||||
| chr2:17737037 | C | T | 1 | a0001c0001t0005g0236 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.344+1184G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737037 | |||||||
| chr2:17737186 | A | G | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.344+1035T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737186 | |||||||
| chr2:17737218 | C | T | 1 | a0003c0002t0001g0162 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.344+1003G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737218 | |||||||
| chr2:17737445 | T | C | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.344+776A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737445 | |||||||
| chr2:17737733 | GT | G | 5 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(2): Show |
8 | HG02257.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.344+487delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737733 | |||||||
| chr2:17737920 | A | T | 2 | a0001c0001t0003g0112 a0001c0001t0014g0064 |
2 | HG00642.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.344+301T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737920 | |||||||
| chr2:17737983 | C | T | 3 | a0002c0004t0002g0010 a0002c0004t0002g0183 a0002c0004t0002g0184 |
4 | HG02055.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.344+238G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737983 | |||||||
| chr2:17737988 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.344+233A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17737988 | |||||||
| chr2:17738000 | G | T | 28 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(25): Show |
33 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(30): Show |
intron_variant | MODIFIER | c.344+221C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17738000 | |||||||
| chr2:17738099 | C | T | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.344+122G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 5/27 | chr2 | 17738099 | |||||||
| chr2:17738351 | TCA | T | 5 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(2): Show |
8 | HG02257.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.239-27_239-26delTG | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17738351 | |||||||
| chr2:17738356 | T | C | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.239-30A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17738356 | |||||||
| chr2:17738786 | G | A | 45 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(42): Show |
45 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.239-460C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17738786 | |||||||
| chr2:17738966 | T | A | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.239-640A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17738966 | |||||||
| chr2:17738998 | T | TATTG | 47 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0174 others(44): Show |
47 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(44): Show |
intron_variant | MODIFIER | c.239-676_239-673dup others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17738998 | |||||||
| chr2:17739019 | C | G | 3 | a0002c0004t0002g0010 a0002c0004t0002g0183 a0002c0004t0002g0184 |
4 | HG02055.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-693G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739019 | |||||||
| chr2:17739047 | G | A | 11 | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(8): Show |
11 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.239-721C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739047 | |||||||
| chr2:17739189 | C | G | 4 | a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0075 others(1): Show |
4 | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-863G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739189 | |||||||
| chr2:17739196 | C | T | 1 | a0001c0001t0003g0047 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.239-870G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739196 | |||||||
| chr2:17739258 | C | T | 3 | a0002c0004t0002g0010 a0002c0004t0002g0183 a0002c0004t0002g0184 |
4 | HG02055.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-932G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739258 | |||||||
| chr2:17739278 | A | G | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(137): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
intron_variant | MODIFIER | c.239-952T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739278 | |||||||
| chr2:17739300 | G | C | 47 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0174 others(44): Show |
47 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(44): Show |
intron_variant | MODIFIER | c.239-974C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739300 | |||||||
| chr2:17739433 | C | T | 4 | a0001c0001t0004g0028 a0001c0001t0004g0030 a0001c0001t0004g0034 others(1): Show |
4 | NA18957.hp1 NA18979.hp1 NA18984.hp1 others(1): Show |
intron_variant | MODIFIER | c.239-1107G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739433 | |||||||
| chr2:17739558 | T | C | 1 | a0001c0001t0003g0058 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.239-1232A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739558 | |||||||
| chr2:17739769 | C | A | 66 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(63): Show |
70 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(67): Show |
intron_variant | MODIFIER | c.239-1443G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739769 | |||||||
| chr2:17739818 | TTAAACAC others(51): Show |
T | 3 | a0001c0001t0004g0028 a0001c0001t0004g0033 a0001c0001t0004g0039 |
3 | NA18979.hp1 NA19006.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.239-1550_239-1493d others(60): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739818 | |||||||
| chr2:17739821 | A | AAC | 3 | a0001c0001t0001g0001 a0001c0001t0006g0042 a0003c0002t0001g0165 |
5 | HG01255.hp2 HG01258.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-1497_239-1496d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739821 | |||||||
| chr2:17739821 | AAC | A | 3 | a0001c0001t0001g0147 a0001c0001t0002g0126 a0001c0001t0007g0007 |
4 | HG02572.hp2 HG03225.hp2 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-1497_239-1496d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739821 | |||||||
| chr2:17739821 | AACACACA others(53): Show |
A | 6 | a0001c0001t0004g0004 a0001c0001t0004g0024 a0001c0001t0004g0030 others(3): Show |
7 | NA18945.hp1 NA18957.hp1 NA18971.hp1 others(4): Show |
intron_variant | MODIFIER | c.239-1555_239-1496d others(62): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739821 | |||||||
| chr2:17739823 | CACACACA others(49): Show |
C | 6 | a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0025 others(3): Show |
6 | HG00621.hp1 HG02896.hp2 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-1553_239-1498d others(58): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739823 | |||||||
| chr2:17739825 | CACACACA others(47): Show |
C | 3 | a0001c0001t0004g0027 a0001c0001t0004g0031 a0001c0001t0004g0040 |
3 | HG03098.hp1 NA19001.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.239-1553_239-1500d others(56): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739825 | |||||||
| chr2:17739827 | CACACACA others(45): Show |
C | 2 | a0001c0001t0004g0029 a0001c0001t0004g0032 |
2 | HG00639.hp1 HG02451.hp1 |
intron_variant | MODIFIER | c.239-1553_239-1502d others(54): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739827 | |||||||
| chr2:17739829 | C | G | 4 | a0001c0001t0003g0069 a0001c0001t0003g0070 a0001c0001t0003g0075 others(1): Show |
4 | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(1): Show |
intron_variant | MODIFIER | c.239-1503G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739829 | |||||||
| chr2:17739837 | C | CACACACA others(3): Show |
2 | a0001c0001t0001g0171 a0001c0001t0002g0212 |
2 | HG02486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.239-1512_239-1511i others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739837 | |||||||
| chr2:17739839 | C | CACACACA others(3): Show |
3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.239-1514_239-1513i others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739839 | |||||||
| chr2:17739839 | C | CACACACA others(1): Show |
10 | a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0005g0235 others(7): Show |
10 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(7): Show |
intron_variant | MODIFIER | c.239-1514_239-1513i others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739839 | |||||||
| chr2:17739841 | C | CACACAG | 18 | a0001c0001t0002g0159 a0002c0003t0001g0008 a0002c0003t0001g0009 others(15): Show |
20 | HG00280.hp2 HG00642.hp2 HG01168.hp2 others(17): Show |
intron_variant | MODIFIER | c.239-1516_239-1515i others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739841 | |||||||
| chr2:17739843 | CAG | C | 3 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0005t0001g0021 |
3 | HG02280.hp1 HG02615.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.239-1519_239-1518d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739843 | |||||||
| chr2:17739845 | G | C | 38 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(35): Show |
42 | HG00280.hp2 HG00642.hp2 HG01168.hp2 others(39): Show |
intron_variant | MODIFIER | c.239-1519C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739845 | |||||||
| chr2:17739845 | G | GAC | 3 | a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0006t0010g0012 |
3 | HG01069.hp1 HG03239.hp1 HG03710.hp1 |
intron_variant | MODIFIER | c.239-1521_239-1520d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739845 | |||||||
| chr2:17739845 | G | GACAC | 39 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0002g0204 others(36): Show |
40 | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(37): Show |
intron_variant | MODIFIER | c.239-1523_239-1520d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739845 | |||||||
| chr2:17739845 | G | GACACAC | 3 | a0001c0001t0001g0146 a0001c0001t0002g0185 a0002c0004t0002g0010 |
3 | HG00140.hp1 HG01109.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.239-1525_239-1520d others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739845 | |||||||
| chr2:17739845 | G | GACACACA others(1): Show |
28 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(25): Show |
28 | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(25): Show |
intron_variant | MODIFIER | c.239-1527_239-1520d others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739845 | |||||||
| chr2:17739845 | G | GACACACA others(3): Show |
1 | a0001c0001t0002g0217 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.239-1529_239-1520d others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739845 | |||||||
| chr2:17739879 | A | AAC | 22 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0002g0002 others(19): Show |
24 | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(21): Show |
intron_variant | MODIFIER | c.239-1555_239-1554d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACAC | 21 | a0001c0001t0001g0018 a0001c0001t0001g0142 a0001c0001t0001g0143 others(18): Show |
22 | HG00099.hp2 HG00741.hp1 HG00741.hp2 others(19): Show |
intron_variant | MODIFIER | c.239-1557_239-1554d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACAC | 16 | a0001c0001t0002g0076 a0001c0001t0002g0126 a0001c0001t0002g0185 others(13): Show |
16 | HG00140.hp1 HG00558.hp2 HG00621.hp2 others(13): Show |
intron_variant | MODIFIER | c.239-1559_239-1554d others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACACA others(1): Show |
11 | a0001c0001t0002g0073 a0001c0001t0002g0117 a0001c0001t0003g0069 others(8): Show |
11 | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(8): Show |
intron_variant | MODIFIER | c.239-1561_239-1554d others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACACA others(3): Show |
12 | a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0116 others(9): Show |
12 | HG00438.hp2 HG00642.hp1 HG01099.hp1 others(9): Show |
intron_variant | MODIFIER | c.239-1563_239-1554d others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACACA others(5): Show |
15 | a0001c0001t0002g0115 a0001c0001t0002g0125 a0001c0001t0003g0045 others(12): Show |
15 | HG00423.hp1 HG00558.hp1 HG00735.hp1 others(12): Show |
intron_variant | MODIFIER | c.239-1565_239-1554d others(14): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACACA others(7): Show |
5 | a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 others(2): Show |
5 | HG01243.hp2 NA18979.hp2 NA19057.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-1567_239-1554d others(16): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACACA others(9): Show |
2 | a0001c0001t0003g0041 a0001c0001t0003g0054 |
2 | NA18971.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.239-1569_239-1554d others(18): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACACA others(11): Show |
1 | a0001c0001t0005g0238 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.239-1571_239-1554d others(20): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | A | AACACACA others(19): Show |
1 | a0001c0001t0003g0053 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.239-1579_239-1554d others(28): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AAC | A | 6 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | HG02698.hp2 HG02809.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-1555_239-1554d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACAC | A | 9 | a0001c0001t0002g0203 a0001c0001t0002g0208 a0001c0001t0002g0210 others(6): Show |
9 | HG00639.hp2 HG01074.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.239-1557_239-1554d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACAC | A | 30 | a0001c0001t0001g0105 a0001c0001t0001g0148 a0001c0001t0001g0149 others(27): Show |
30 | HG01069.hp2 HG01070.hp2 HG01071.hp2 others(27): Show |
intron_variant | MODIFIER | c.239-1559_239-1554d others(8): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACACA others(1): Show |
A | 29 | a0001c0001t0001g0005 a0001c0001t0001g0146 a0001c0001t0002g0207 others(26): Show |
33 | HG00280.hp2 HG00323.hp1 HG00738.hp2 others(30): Show |
intron_variant | MODIFIER | c.239-1561_239-1554d others(10): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACACA others(3): Show |
A | 9 | a0001c0001t0002g0209 a0001c0001t0002g0224 a0001c0001t0003g0094 others(6): Show |
9 | HG00099.hp1 HG01069.hp1 HG01358.hp1 others(6): Show |
intron_variant | MODIFIER | c.239-1563_239-1554d others(12): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACACA others(5): Show |
A | 14 | a0001c0001t0002g0225 a0002c0003t0001g0008 a0002c0003t0001g0152 others(11): Show |
16 | HG00140.hp2 HG01175.hp2 HG01517.hp2 others(13): Show |
intron_variant | MODIFIER | c.239-1565_239-1554d others(14): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACACA others(7): Show |
A | 4 | a0001c0001t0003g0095 a0001c0001t0005g0234 a0003c0002t0001g0189 others(1): Show |
4 | HG00735.hp2 HG01192.hp1 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.239-1567_239-1554d others(16): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACACA others(11): Show |
A | 1 | a0003c0002t0009g0231 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.239-1571_239-1554d others(20): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACACA others(15): Show |
A | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.239-1575_239-1554d others(24): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17739879 | AACACACA others(17): Show |
A | 2 | a0002c0003t0001g0144 a0002c0003t0001g0145 |
2 | HG02559.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.239-1577_239-1554d others(26): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17739879 | |||||||
| chr2:17740316 | G | C | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.238+1296C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740316 | |||||||
| chr2:17740349 | A | T | 1 | a0001c0001t0003g0052 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.238+1263T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740349 | |||||||
| chr2:17740353 | T | C | 1 | a0002c0003t0001g0170 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.238+1259A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740353 | |||||||
| chr2:17740424 | C | T | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.238+1188G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740424 | |||||||
| chr2:17740498 | C | T | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.238+1114G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740498 | |||||||
| chr2:17740799 | G | A | 1 | a0001c0001t0002g0185 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.238+813C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740799 | |||||||
| chr2:17740831 | T | C | 4 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show |
4 | HG01109.hp2 HG02886.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.238+781A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740831 | |||||||
| chr2:17740848 | TCAAAAAA others(8): Show |
T | 9 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(6): Show |
9 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.238+749_238+763del others(15): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740848 | |||||||
| chr2:17740858 | AAAAAACA others(7): Show |
A | 2 | a0001c0001t0005g0237 a0001c0001t0017g0242 |
2 | NA18959.hp2 NA18978.hp1 |
intron_variant | MODIFIER | c.238+740_238+753del others(14): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740858 | |||||||
| chr2:17740862 | AAC | A | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.238+748_238+749del others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740862 | |||||||
| chr2:17740863 | AC | A | 29 | a0001c0001t0001g0139 a0001c0001t0002g0174 a0001c0001t0002g0175 others(26): Show |
29 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(26): Show |
intron_variant | MODIFIER | c.238+748delG | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740863 | |||||||
| chr2:17740864 | C | A | 74 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(71): Show |
79 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(76): Show |
intron_variant | MODIFIER | c.238+748G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740864 | |||||||
| chr2:17740872 | C | A | 6 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | HG01109.hp2 HG02258.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+740G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17740872 | |||||||
| chr2:17741074 | T | C | 1 | a0001c0001t0002g0129 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.238+538A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17741074 | |||||||
| chr2:17741248 | T | G | 2 | a0001c0001t0003g0096 a0001c0001t0003g0097 |
2 | HG00423.hp1 NA18992.hp2 |
intron_variant | MODIFIER | c.238+364A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17741248 | |||||||
| chr2:17741572 | G | A | 1 | a0001c0001t0003g0098 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.238+40C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17741572 | |||||||
| chr2:17741598 | G | C | 14 | a0001c0001t0004g0004 a0001c0001t0004g0022 a0001c0001t0004g0023 others(11): Show |
15 | HG00621.hp1 NA18945.hp1 NA18946.hp1 others(12): Show |
intron_variant | MODIFIER | c.238+14C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 4/27 | chr2 | 17741598 | |||||||
| chr2:17741774 | T | A | 1 | a0002c0003t0001g0170 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.121-45A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17741774 | |||||||
| chr2:17742076 | C | T | 73 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(70): Show |
78 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.121-347G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17742076 | |||||||
| chr2:17742084 | C | T | 1 | a0001c0001t0004g0028 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.121-355G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17742084 | |||||||
| chr2:17742105 | A | T | 45 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(42): Show |
45 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.121-376T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17742105 | |||||||
| chr2:17742167 | T | A | 5 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(2): Show |
8 | HG02257.hp2 HG02280.hp1 HG02630.hp1 others(5): Show |
intron_variant | MODIFIER | c.121-438A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17742167 | |||||||
| chr2:17742378 | T | C | 1 | a0001c0001t0002g0102 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.121-649A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17742378 | |||||||
| chr2:17742659 | C | T | 2 | a0001c0001t0001g0148 a0001c0001t0001g0149 |
2 | HG02258.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.121-930G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17742659 | |||||||
| chr2:17743240 | A | G | 1 | a0001c0001t0002g0222 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.121-1511T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743240 | |||||||
| chr2:17743246 | C | T | 45 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(42): Show |
45 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.121-1517G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743246 | |||||||
| chr2:17743266 | C | T | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.121-1537G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743266 | |||||||
| chr2:17743355 | C | G | 1 | a0001c0001t0004g0040 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.121-1626G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743355 | |||||||
| chr2:17743405 | CCTAA | C | 3 | a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0228 |
3 | HG00639.hp2 HG01074.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.121-1680_121-1677d others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743405 | |||||||
| chr2:17743410 | C | CTAAG | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.121-1682_121-1681i others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743410 | |||||||
| chr2:17743540 | C | A | 1 | a0001c0001t0001g0171 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.121-1811G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743540 | |||||||
| chr2:17743587 | C | G | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.121-1858G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743587 | |||||||
| chr2:17743617 | G | A | 6 | a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 others(3): Show |
6 | HG01243.hp1 HG01884.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.121-1888C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743617 | |||||||
| chr2:17743676 | CAT | C | 5 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(2): Show |
5 | HG02615.hp1 HG02622.hp1 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.121-1949_121-1948d others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743676 | |||||||
| chr2:17743699 | G | C | 1 | a0001c0001t0013g0106 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.121-1970C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743699 | |||||||
| chr2:17743717 | C | T | 2 | a0001c0001t0003g0051 a0001c0006t0010g0012 |
2 | HG01069.hp1 HG01255.hp1 |
intron_variant | MODIFIER | c.121-1988G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17743717 | |||||||
| chr2:17744075 | A | C | 1 | a0001c0001t0005g0232 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.120+1752T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744075 | |||||||
| chr2:17744219 | T | C | 73 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(70): Show |
78 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.120+1608A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744219 | |||||||
| chr2:17744256 | T | C | 45 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(42): Show |
45 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(42): Show |
intron_variant | MODIFIER | c.120+1571A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744256 | |||||||
| chr2:17744307 | G | A | 5 | a0002c0003t0001g0151 a0002c0003t0001g0172 a0002c0003t0001g0181 others(2): Show |
5 | HG02717.hp1 HG02976.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.120+1520C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744307 | |||||||
| chr2:17744444 | C | T | 2 | a0001c0001t0002g0215 a0001c0001t0002g0216 |
2 | HG01934.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.120+1383G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744444 | |||||||
| chr2:17744522 | A | G | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.120+1305T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744522 | |||||||
| chr2:17744715 | T | C | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.120+1112A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744715 | |||||||
| chr2:17744736 | G | T | 73 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(70): Show |
78 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.120+1091C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744736 | |||||||
| chr2:17744894 | T | C | 1 | a0001c0001t0001g0146 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.120+933A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744894 | |||||||
| chr2:17744952 | T | C | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.120+875A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744952 | |||||||
| chr2:17744979 | C | T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0105 |
3 | HG02717.hp2 HG03225.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.120+848G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17744979 | |||||||
| chr2:17745044 | C | CTTCA | 3 | a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0101 |
3 | HG01346.hp1 HG02074.hp1 NA18959.hp1 |
intron_variant | MODIFIER | c.120+782_120+783ins others(4): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745044 | |||||||
| chr2:17745059 | G | T | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.120+768C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745059 | |||||||
| chr2:17745060 | T | A | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.120+767A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745060 | |||||||
| chr2:17745254 | A | G | 2 | a0001c0001t0002g0217 a0001c0001t0002g0218 |
2 | HG01496.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.120+573T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745254 | |||||||
| chr2:17745257 | CTG | C | 6 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(3): Show |
9 | HG02257.hp2 HG02280.hp1 HG02615.hp2 others(6): Show |
intron_variant | MODIFIER | c.120+568_120+569del others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745257 | |||||||
| chr2:17745292 | TG | T | 34 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(31): Show |
34 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(31): Show |
intron_variant | MODIFIER | c.120+534delC | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745292 | |||||||
| chr2:17745345 | T | C | 1 | a0001c0001t0005g0240 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.120+482A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745345 | |||||||
| chr2:17745522 | G | C | 31 | a0001c0001t0002g0185 a0001c0001t0002g0200 a0001c0001t0002g0201 others(28): Show |
31 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(28): Show |
intron_variant | MODIFIER | c.120+305C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745522 | |||||||
| chr2:17745606 | T | C | 1 | a0003c0002t0001g0173 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.120+221A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745606 | |||||||
| chr2:17745658 | AT | A | 24 | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0014 others(21): Show |
26 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(23): Show |
intron_variant | MODIFIER | c.120+168delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 3/27 | chr2 | 17745658 | |||||||
| chr2:17745999 | T | C | 2 | a0001c0001t0002g0125 a0001c0001t0002g0126 |
2 | HG01081.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.-5-48A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17745999 | |||||||
| chr2:17746008 | C | T | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(137): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
intron_variant | MODIFIER | c.-5-57G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746008 | |||||||
| chr2:17746157 | T | G | 1 | a0001c0001t0003g0103 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.-5-206A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746157 | |||||||
| chr2:17746209 | A | G | 4 | a0001c0001t0003g0041 a0001c0001t0003g0050 a0001c0001t0003g0130 others(1): Show |
4 | NA18971.hp2 NA18978.hp2 NA18993.hp2 others(1): Show |
intron_variant | MODIFIER | c.-5-258T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746209 | |||||||
| chr2:17746304 | T | C | 47 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0174 others(44): Show |
47 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(44): Show |
intron_variant | MODIFIER | c.-5-353A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746304 | |||||||
| chr2:17746592 | T | TA | 21 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(18): Show |
25 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(22): Show |
intron_variant | MODIFIER | c.-5-642dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746592 | |||||||
| chr2:17746599 | A | AT | 5 | a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0037 others(2): Show |
5 | HG02451.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-649_-5-648insA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746599 | |||||||
| chr2:17746605 | C | CAGGTTGA others(1): Show |
2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-5-662_-5-655dupAT others(6): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746605 | |||||||
| chr2:17746615 | G | C | 1 | a0001c0001t0003g0049 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.-5-664C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746615 | |||||||
| chr2:17746671 | A | T | 1 | a0001c0001t0001g0143 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-5-720T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746671 | |||||||
| chr2:17746695 | T | G | 1 | a0001c0001t0001g0143 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-5-744A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746695 | |||||||
| chr2:17746703 | C | T | 1 | a0001c0001t0003g0049 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.-5-752G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746703 | |||||||
| chr2:17746707 | A | T | 6 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | HG01109.hp2 HG02258.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-756T>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746707 | |||||||
| chr2:17746821 | A | C | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.-5-870T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746821 | |||||||
| chr2:17746871 | T | A | 1 | a0001c0001t0003g0104 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-5-920A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746871 | |||||||
| chr2:17746940 | C | T | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.-5-989G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17746940 | |||||||
| chr2:17747008 | G | A | 3 | a0002c0004t0002g0010 a0002c0004t0002g0183 a0002c0004t0002g0184 |
4 | HG02055.hp1 HG02970.hp2 HG03139.hp2 others(1): Show |
intron_variant | MODIFIER | c.-5-1057C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747008 | |||||||
| chr2:17747035 | C | T | 1 | a0001c0001t0002g0221 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-5-1084G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747035 | |||||||
| chr2:17747128 | G | C | 1 | a0001c0001t0002g0208 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-5-1177C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747128 | |||||||
| chr2:17747139 | T | G | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-5-1188A>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747139 | |||||||
| chr2:17747368 | T | C | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-5-1417A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747368 | |||||||
| chr2:17747382 | T | C | 2 | a0001c0001t0004g0037 a0001c0001t0004g0038 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-5-1431A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747382 | |||||||
| chr2:17747482 | T | A | 2 | a0001c0001t0002g0215 a0001c0001t0002g0216 |
2 | HG01934.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.-5-1531A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747482 | |||||||
| chr2:17747489 | CT | C | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.-5-1539delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747489 | |||||||
| chr2:17747503 | CTTTCT | C | 5 | a0001c0001t0001g0005 a0001c0001t0001g0105 a0001c0001t0001g0139 others(2): Show |
6 | HG02717.hp2 HG02886.hp2 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-1557_-5-1553del others(5): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747503 | |||||||
| chr2:17747507 | CT | C | 208 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(205): Show |
219 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
intron_variant | MODIFIER | c.-5-1557delA | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747507 | |||||||
| chr2:17747652 | G | A | 2 | a0003c0002t0001g0196 a0003c0002t0011g0195 |
2 | NA18955.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.-5-1701C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17747652 | |||||||
| chr2:17748238 | A | G | 1 | a0003c0002t0001g0157 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-5-2287T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748238 | |||||||
| chr2:17748439 | A | C | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.-5-2488T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748439 | |||||||
| chr2:17748469 | C | T | 1 | a0001c0001t0003g0048 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.-5-2518G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748469 | |||||||
| chr2:17748835 | A | G | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.-5-2884T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748835 | |||||||
| chr2:17748851 | C | T | 1 | a0001c0001t0003g0047 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-5-2900G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748851 | |||||||
| chr2:17748902 | T | C | 7 | a0002c0003t0001g0133 a0002c0003t0001g0134 a0002c0003t0001g0135 others(4): Show |
7 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.-5-2951A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748902 | |||||||
| chr2:17748917 | C | G | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-5-2966G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748917 | |||||||
| chr2:17748928 | G | A | 73 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(70): Show |
78 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.-5-2977C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17748928 | |||||||
| chr2:17749014 | G | A | 4 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(1): Show |
4 | HG01109.hp2 HG02886.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-3063C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749014 | |||||||
| chr2:17749081 | T | A | 1 | a0001c0001t0013g0106 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.-5-3130A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749081 | |||||||
| chr2:17749295 | T | C | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | HG03130.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.-5-3344A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749295 | |||||||
| chr2:17749463 | G | A | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-5-3512C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749463 | |||||||
| chr2:17749539 | T | C | 1 | a0001c0001t0003g0107 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.-6+3439A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749539 | |||||||
| chr2:17749554 | GGC | G | 6 | a0002c0003t0001g0008 a0002c0003t0001g0153 a0002c0003t0001g0154 others(3): Show |
7 | HG01891.hp1 HG02257.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6+3422_-6+3423del others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749554 | |||||||
| chr2:17749558 | C | T | 1 | a0001c0001t0007g0007 | 2 | HG02572.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.-6+3420G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749558 | |||||||
| chr2:17749607 | A | G | 75 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(72): Show |
80 | HG00140.hp1 HG00621.hp1 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.-6+3371T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749607 | |||||||
| chr2:17749851 | C | T | 47 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0174 others(44): Show |
47 | HG00140.hp1 HG00639.hp2 HG01069.hp2 others(44): Show |
intron_variant | MODIFIER | c.-6+3127G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17749851 | |||||||
| chr2:17750237 | G | A | 1 | a0001c0006t0010g0012 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.-6+2741C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17750237 | |||||||
| chr2:17750654 | T | C | 9 | a0001c0001t0001g0142 a0001c0001t0001g0143 a0002c0003t0001g0133 others(6): Show |
9 | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.-6+2324A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17750654 | |||||||
| chr2:17750742 | T | A | 7 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 others(4): Show |
7 | HG01261.hp2 HG01891.hp2 HG02145.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6+2236A>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17750742 | |||||||
| chr2:17750846 | CA | C | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(137): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
intron_variant | MODIFIER | c.-6+2131delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17750846 | |||||||
| chr2:17750989 | G | C | 2 | a0001c0001t0002g0217 a0001c0001t0002g0218 |
2 | HG01496.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-6+1989C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17750989 | |||||||
| chr2:17751005 | C | CA | 82 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(79): Show |
83 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(80): Show |
intron_variant | MODIFIER | c.-6+1972dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751005 | |||||||
| chr2:17751005 | C | CAA | 71 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(68): Show |
80 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(77): Show |
intron_variant | MODIFIER | c.-6+1971_-6+1972dup others(2): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751005 | |||||||
| chr2:17751005 | C | CAAA | 12 | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0014 others(9): Show |
13 | HG00741.hp2 HG01070.hp1 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.-6+1970_-6+1972dup others(3): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751005 | |||||||
| chr2:17751215 | C | T | 1 | a0001c0001t0003g0046 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.-6+1763G>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751215 | |||||||
| chr2:17751276 | C | G | 1 | a0001c0001t0004g0028 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.-6+1702G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751276 | |||||||
| chr2:17751425 | T | C | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.-6+1553A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751425 | |||||||
| chr2:17751448 | A | C | 1 | a0001c0001t0003g0045 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.-6+1530T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751448 | |||||||
| chr2:17751449 | G | A | 1 | a0001c0001t0002g0129 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-6+1529C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751449 | |||||||
| chr2:17751467 | C | CA | 7 | a0001c0001t0002g0132 a0001c0001t0002g0227 a0001c0001t0003g0130 others(4): Show |
7 | HG00140.hp2 HG01175.hp2 HG02056.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6+1510dupT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751467 | |||||||
| chr2:17751467 | CA | C | 70 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(67): Show |
74 | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(71): Show |
intron_variant | MODIFIER | c.-6+1510delT | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751467 | |||||||
| chr2:17751566 | G | T | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(137): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
intron_variant | MODIFIER | c.-6+1412C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751566 | |||||||
| chr2:17751601 | C | G | 1 | a0001c0001t0003g0044 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.-6+1377G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751601 | |||||||
| chr2:17751606 | G | A | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(137): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
intron_variant | MODIFIER | c.-6+1372C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751606 | |||||||
| chr2:17751721 | G | C | 1 | a0002c0003t0001g0150 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-6+1257C>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751721 | |||||||
| chr2:17751893 | A | C | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-6+1085T>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17751893 | |||||||
| chr2:17752008 | T | C | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(137): Show |
149 | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(146): Show |
intron_variant | MODIFIER | c.-6+970A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17752008 | |||||||
| chr2:17752052 | T | C | 2 | a0001c0001t0001g0147 a0001c0001t0007g0007 |
3 | HG02572.hp2 HG03225.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.-6+926A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17752052 | |||||||
| chr2:17752170 | C | G | 1 | a0001c0001t0005g0241 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-6+808G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17752170 | |||||||
| chr2:17752566 | A | G | 1 | a0001c0001t0002g0174 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.-6+412T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17752566 | |||||||
| chr2:17752604 | A | G | 3 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 |
3 | HG03669.hp2 HG04199.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.-6+374T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17752604 | |||||||
| chr2:17752727 | C | A | 1 | a0001c0001t0001g0147 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-6+251G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17752727 | |||||||
| chr2:17752895 | T | C | 50 | a0001c0001t0001g0171 a0001c0001t0002g0159 a0002c0003t0001g0008 others(47): Show |
54 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(51): Show |
intron_variant | MODIFIER | c.-6+83A>G | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 2/27 | chr2 | 17752895 | |||||||
| chr2:17753137 | A | G | 3 | a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0027 |
3 | NA18946.hp1 NA18968.hp1 NA19001.hp2 |
intron_variant | MODIFIER | c.-92-73T>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753137 | |||||||
| chr2:17753290 | G | T | 1 | a0001c0001t0003g0041 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.-92-226C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753290 | |||||||
| chr2:17753324 | T | TGGGGACG others(11): Show |
21 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(18): Show |
26 | HG00735.hp2 HG01109.hp1 HG01109.hp2 others(23): Show |
intron_variant | MODIFIER | c.-92-278_-92-261dup others(18): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753324 | |||||||
| chr2:17753324 | T | TGGGGACG others(29): Show |
38 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0171 others(35): Show |
40 | HG00280.hp2 HG00323.hp1 HG00642.hp2 others(37): Show |
intron_variant | MODIFIER | c.-93+266_-92-261dup others(36): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753324 | |||||||
| chr2:17753324 | T | TGGGGACG others(47): Show |
27 | a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 others(24): Show |
29 | HG00140.hp2 HG00621.hp1 HG01070.hp2 others(26): Show |
intron_variant | MODIFIER | c.-92-261_-92-260ins others(54): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753324 | |||||||
| chr2:17753324 | T | TGGGGACG others(65): Show |
37 | a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 others(34): Show |
37 | HG00639.hp1 HG00639.hp2 HG01074.hp1 others(34): Show |
intron_variant | MODIFIER | c.-92-261_-92-260ins others(72): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753324 | |||||||
| chr2:17753324 | T | TGGGGACG others(83): Show |
10 | a0001c0001t0002g0185 a0001c0001t0002g0224 a0001c0001t0002g0225 others(7): Show |
10 | HG00140.hp1 HG01069.hp1 HG01099.hp2 others(7): Show |
intron_variant | MODIFIER | c.-92-261_-92-260ins others(90): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753324 | |||||||
| chr2:17753324 | T | TGGGGACG others(101): Show |
2 | a0001c0001t0002g0228 a0001c0001t0002g0229 |
2 | HG02809.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.-92-261_-92-260ins others(108): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753324 | |||||||
| chr2:17753407 | C | G | 26 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0018 others(23): Show |
30 | HG00621.hp1 HG00639.hp1 HG02257.hp2 others(27): Show |
intron_variant | MODIFIER | c.-93+219G>C | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753407 | |||||||
| chr2:17753428 | G | T | 6 | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0014 others(3): Show |
7 | HG00741.hp2 HG01070.hp1 HG01071.hp1 others(4): Show |
intron_variant | MODIFIER | c.-93+198C>A | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753428 | |||||||
| chr2:17753453 | C | A | 11 | a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0234 others(8): Show |
11 | HG01884.hp1 HG02056.hp1 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.-93+173G>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753453 | |||||||
| chr2:17753559 | AAGG | A | 14 | a0003c0002t0001g0011 a0003c0002t0001g0187 a0003c0002t0001g0188 others(11): Show |
15 | HG00140.hp2 HG00735.hp2 HG01109.hp1 others(12): Show |
intron_variant | MODIFIER | c.-93+64_-93+66delCC others(1): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753559 | |||||||
| chr2:17753564 | G | A | 30 | a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 others(27): Show |
30 | HG00639.hp2 HG01069.hp2 HG01070.hp2 others(27): Show |
intron_variant | MODIFIER | c.-93+62C>T | SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1/27 | chr2 | 17753564 |