Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 23673 |
| ensemblid | ENSG00000117758.14 |
| hgncid | 11430 |
| symbol | STX12 |
| name | syntaxin 12 |
| refseq_nuc | NM_177424.3 |
| refseq_prot | NP_803173.1 |
| ensembl_nuc | ENST00000373943.9 |
| ensembl_prot | ENSP00000363054.4 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 27773219 |
| end | 27824443 |
| strand | + |
| ver | v1.2 |
| region | chr1:27773219-27824443 |
| region5000 | chr1:27768219-27829443 |
| regionname0 | STX12_chr1_27773219_27824443 |
| regionname5000 | STX12_chr1_27768219_27829443 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 276 | 227 | 84 | 26 | 91 | 6 | 18 | 58 | STX12_chr1_27768219_27829443 | STX12 | MSYGP others(271): Show |
chr1 | 27768219 | 27829443 |
| a0002 | 0/0 | 276 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | MSYGP others(271): Show |
chr1 | 27768219 | 27829443 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 828 | 225 | 82 | 26 | 91 | 6 | 18 | STX12_chr1_27768219_27829443 | STX12 | ATGTC others(823): Show |
chr1 | 27768219 | 27829443 | ||
| a0001c0002 | 0/0 | 828 | 2 | 2 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | ATGTC others(823): Show |
chr1 | 27768219 | 27829443 | ||
| a0002c0003 | 0/0 | 828 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | ATGTC others(823): Show |
chr1 | 27768219 | 27829443 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 3034 | 118 | 29 | 18 | 52 | 6 | 11 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0002 | 0/0 | 3034 | 47 | 3 | 0 | 39 | 0 | 5 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0003 | 0/0 | 3034 | 25 | 21 | 4 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0004 | 0/0 | 3034 | 15 | 12 | 3 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0005 | 0/0 | 3034 | 6 | 6 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0006 | 0/0 | 3034 | 4 | 2 | 1 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0007 | 0/0 | 3034 | 4 | 4 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0008 | 0/0 | 3034 | 2 | 2 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0009 | 0/0 | 3034 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0010 | 0/0 | 3034 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0011 | 0/0 | 3034 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0001t0012 | 0/0 | 3034 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0002t0001 | 0/0 | 3034 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0001c0002t0003 | 0/0 | 3034 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| a0002c0003t0002 | 0/0 | 3034 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | CCCAG others(3029): Show |
chr1 | 27768219 | 27829443 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0003 | 0/0 | 4 | 4 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0010 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0011 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0012 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0013 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0014 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0015 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0016 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0017 | 0/0 | 2 | 1 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0128 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0146 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0151 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0001 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0005 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0009 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0002g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0006 | 0/0 | 3 | 1 | 2 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0003g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0004 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0007 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0004g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0005g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0005g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0005g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0005g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0005g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0006g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0006g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0006g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0006g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0007g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0007g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0007g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0007g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0008g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0008g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0009g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0010g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0011g0025 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0001t0012g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0002t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0001c0002t0003g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| a0002c0003t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0012 | EUR | GBR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0148 | EUR | GBR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0158 | EUR | FIN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0159 | EUR | FIN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0126 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00408 | hp2 | a0001 | c0001 | t0002 | g0071 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00544 | hp1 | a0001 | c0001 | t0002 | g0100 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0015 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0123 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0014 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00597 | hp1 | a0001 | c0001 | t0002 | g0090 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0192 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00621 | hp1 | a0001 | c0001 | t0002 | g0084 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00639 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00639 | hp2 | a0001 | c0001 | t0004 | g0007 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00673 | hp2 | a0001 | c0001 | t0002 | g0098 | EAS | CHS | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0179 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0136 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01069 | hp1 | a0001 | c0001 | t0003 | g0006 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01069 | hp2 | a0001 | c0001 | t0006 | g0070 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01071 | hp1 | a0001 | c0001 | t0003 | g0006 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0157 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0130 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0162 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01106 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0133 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0183 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01243 | hp1 | a0001 | c0001 | t0003 | g0035 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01243 | hp2 | a0001 | c0001 | t0004 | g0056 | AMR | PUR | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01255 | hp1 | a0001 | c0001 | t0003 | g0055 | AMR | CLM | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0147 | AMR | CLM | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | CLM | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0120 | AMR | CLM | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0200 | AMR | CLM | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0026 | AMR | CLM | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01884 | hp1 | a0001 | c0001 | t0004 | g0046 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01884 | hp2 | a0001 | c0001 | t0003 | g0050 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01891 | hp1 | a0001 | c0001 | t0003 | g0033 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01952 | hp1 | a0001 | c0001 | t0001 | g0198 | AMR | PEL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0180 | AMR | PEL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02015 | hp1 | a0001 | c0001 | t0002 | g0074 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0013 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02040 | hp2 | a0002 | c0003 | t0002 | g0001 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02055 | hp1 | a0001 | c0001 | t0003 | g0111 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02055 | hp2 | a0001 | c0001 | t0004 | g0049 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0099 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0175 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02080 | hp2 | a0001 | c0001 | t0002 | g0082 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0185 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0086 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0177 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02145 | hp1 | a0001 | c0001 | t0003 | g0051 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02145 | hp2 | a0001 | c0001 | t0004 | g0018 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02155 | hp1 | a0001 | c0001 | t0002 | g0075 | EAS | CDX | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | CDX | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02257 | hp1 | a0001 | c0001 | t0010 | g0037 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02257 | hp2 | a0001 | c0001 | t0004 | g0043 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02258 | hp1 | a0001 | c0001 | t0007 | g0067 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02258 | hp2 | a0001 | c0001 | t0005 | g0060 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02451 | hp1 | a0001 | c0001 | t0002 | g0114 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02451 | hp2 | a0001 | c0001 | t0005 | g0058 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0019 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0083 | EAS | KHV | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02572 | hp1 | a0001 | c0001 | t0003 | g0052 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02572 | hp2 | a0001 | c0001 | t0005 | g0062 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0156 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0124 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02615 | hp2 | a0001 | c0001 | t0003 | g0201 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02622 | hp2 | a0001 | c0001 | t0003 | g0110 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0167 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0072 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02647 | hp1 | a0001 | c0001 | t0003 | g0053 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02647 | hp2 | a0001 | c0001 | t0003 | g0036 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0131 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02683 | hp2 | a0001 | c0001 | t0002 | g0009 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0127 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02717 | hp2 | a0001 | c0001 | t0004 | g0004 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02723 | hp1 | a0001 | c0001 | t0004 | g0047 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0006 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02818 | hp1 | a0001 | c0001 | t0004 | g0044 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02818 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0146 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02886 | hp2 | a0001 | c0001 | t0007 | g0066 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0010 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02895 | hp2 | a0001 | c0001 | t0006 | g0069 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02896 | hp1 | a0001 | c0001 | t0007 | g0064 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02896 | hp2 | a0001 | c0002 | t0003 | g0116 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0118 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02897 | hp2 | a0001 | c0001 | t0007 | g0065 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0034 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0139 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02965 | hp1 | a0001 | c0001 | t0002 | g0081 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02965 | hp2 | a0001 | c0001 | t0004 | g0048 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02970 | hp2 | a0001 | c0001 | t0005 | g0063 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0143 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0165 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0009 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0191 | AFR | GWD | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03098 | hp1 | a0001 | c0001 | t0009 | g0024 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03098 | hp2 | a0001 | c0001 | t0003 | g0040 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0134 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03130 | hp2 | a0001 | c0001 | t0008 | g0096 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03139 | hp1 | a0001 | c0002 | t0001 | g0184 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03139 | hp2 | a0001 | c0001 | t0012 | g0057 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03195 | hp1 | a0001 | c0001 | t0003 | g0032 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03195 | hp2 | a0001 | c0001 | t0003 | g0109 | AFR | ESN | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03209 | hp1 | a0001 | c0001 | t0008 | g0095 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0093 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03239 | hp2 | a0001 | c0001 | t0006 | g0113 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03453 | hp1 | a0001 | c0001 | t0003 | g0042 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03486 | hp1 | a0001 | c0001 | t0003 | g0054 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0145 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0155 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03491 | hp2 | a0001 | c0001 | t0011 | g0025 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0195 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0160 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03669 | hp1 | a0001 | c0001 | t0002 | g0089 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0154 | SAS | PJL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0196 | SAS | BEB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0137 | SAS | BEB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0163 | SAS | STU | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0068 | SAS | STU | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | YRI | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | YRI | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | CHB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18612 | hp2 | a0001 | c0001 | t0002 | g0079 | EAS | CHB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | CHB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18747 | hp2 | a0001 | c0001 | t0002 | g0001 | EAS | CHB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18906 | hp1 | a0001 | c0001 | t0004 | g0045 | AFR | YRI | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0132 | AFR | YRI | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18939 | hp2 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18943 | hp1 | a0001 | c0001 | t0002 | g0005 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0170 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18946 | hp1 | a0001 | c0001 | t0001 | g0166 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0076 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18952 | hp1 | a0001 | c0001 | t0002 | g0101 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0106 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18961 | hp1 | a0001 | c0001 | t0002 | g0077 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18962 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18962 | hp2 | a0001 | c0001 | t0002 | g0008 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18964 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18966 | hp1 | a0001 | c0001 | t0002 | g0008 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18968 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18968 | hp2 | a0001 | c0001 | t0001 | g0121 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0181 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18971 | hp2 | a0001 | c0001 | t0002 | g0041 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18977 | hp2 | a0001 | c0001 | t0002 | g0078 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18978 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0103 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0022 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18992 | hp1 | a0001 | c0001 | t0002 | g0080 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18992 | hp2 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0193 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18993 | hp2 | a0001 | c0001 | t0002 | g0104 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA18995 | hp2 | a0001 | c0001 | t0002 | g0005 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0088 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0194 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19002 | hp1 | a0001 | c0001 | t0002 | g0005 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19002 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19030 | hp1 | a0001 | c0001 | t0003 | g0112 | AFR | LWK | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0122 | AFR | LWK | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0117 | AFR | LWK | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19043 | hp2 | a0001 | c0001 | t0003 | g0031 | AFR | LWK | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19054 | hp1 | a0001 | c0001 | t0002 | g0102 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19058 | hp2 | a0001 | c0001 | t0002 | g0087 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19060 | hp1 | a0001 | c0001 | t0002 | g0085 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19070 | hp1 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19076 | hp1 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19076 | hp2 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19078 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19078 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19081 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19081 | hp2 | a0001 | c0001 | t0002 | g0073 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19090 | hp1 | a0001 | c0001 | t0002 | g0091 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA20129 | hp1 | a0001 | c0001 | t0006 | g0107 | AFR | ASW | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA20129 | hp2 | a0001 | c0001 | t0004 | g0004 | AFR | ASW | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0135 | EUR | TSI | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0152 | EUR | TSI | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02109 | hp1 | a0001 | c0001 | t0003 | g0038 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02109 | hp2 | a0001 | c0001 | t0001 | g0172 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02486 | hp1 | a0001 | c0001 | t0005 | g0059 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0169 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG02559 | hp2 | a0001 | c0001 | t0004 | g0028 | AFR | ACB | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03471 | hp1 | a0001 | c0001 | t0005 | g0061 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0023 | AFR | MSL | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG06807 | hp1 | a0001 | c0001 | t0004 | g0007 | AFR | USA | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| HG06807 | hp2 | a0001 | c0001 | t0003 | g0039 | AFR | USA | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0161 | AFR | LWK | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| NA21309 | hp2 | a0001 | c0001 | t0003 | g0027 | AFR | LWK | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0128 | REF | REF | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0151 | REF | REF | STX12_chr1_27768219_27829443 | STX12 | chr1 | 27768219 | 27829443 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:27801703 | G | A | 1 | a0002 | 1 | HG02040.hp2 | missense_variant | MODERATE | c.314G>A | p.Arg105His | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/9 | 403/3034 | 314/831 | 105/276 | chr1 | 27801703 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:27773316 | C | T | 1 | a0001c0002 | 2 | HG02896.hp2 HG03139.hp1 |
synonymous_variant | LOW | c.9C>T | p.Tyr3Tyr | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/9 | 98/3034 | 9/831 | 3/276 | chr1 | 27773316 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:27822366 | G | C | 2 | a0001c0001t0006 a0001c0001t0009 |
5 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*37G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 37 | chr1 | 27822366 | ||||||
| chr1:27822595 | G | A | 1 | a0001c0001t0007 | 4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*266G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 266 | chr1 | 27822595 | ||||||
| chr1:27823243 | A | G | 1 | a0001c0001t0009 | 1 | HG03098.hp1 | 3_prime_UTR_variant | MODIFIER | c.*914A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 914 | chr1 | 27823243 | ||||||
| chr1:27823413 | A | T | 5 | a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(2): Show |
55 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
3_prime_UTR_variant | MODIFIER | c.*1084A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1084 | chr1 | 27823413 | ||||||
| chr1:27823954 | A | G | 1 | a0001c0001t0012 | 1 | HG03139.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1625A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1625 | chr1 | 27823954 | ||||||
| chr1:27823986 | C | T | 1 | a0001c0001t0004 | 15 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(12): Show |
3_prime_UTR_variant | MODIFIER | c.*1657C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1657 | chr1 | 27823986 | ||||||
| chr1:27824004 | G | A | 1 | a0001c0001t0008 | 2 | HG03130.hp2 HG03209.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1675G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1675 | chr1 | 27824004 | ||||||
| chr1:27824008 | C | T | 1 | a0001c0001t0011 | 1 | HG03491.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1679C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1679 | chr1 | 27824008 | ||||||
| chr1:27824090 | A | T | 12 | a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
3_prime_UTR_variant | MODIFIER | c.*1761A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1761 | chr1 | 27824090 | ||||||
| chr1:27824095 | A | G | 2 | a0001c0001t0004 a0001c0001t0005 |
21 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*1766A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1766 | chr1 | 27824095 | ||||||
| chr1:27824177 | C | G | 1 | a0001c0001t0010 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1848C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 9/9 | 1848 | chr1 | 27824177 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr1:27773432 | C | CG | 7 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(4): Show |
7 | HG02145.hp2 HG02523.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.118+11dupG | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27773432 | ||||||
| chr1:27773460 | G | A | 1 | a0001c0001t0011g0025 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.118+35G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27773460 | |||||||
| chr1:27773511 | G | C | 1 | a0001c0001t0001g0026 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.118+86G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27773511 | |||||||
| chr1:27773658 | A | T | 1 | a0001c0001t0001g0202 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.118+233A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27773658 | |||||||
| chr1:27773676 | C | G | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.118+251C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27773676 | |||||||
| chr1:27773978 | C | G | 1 | a0001c0001t0001g0200 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.118+553C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27773978 | |||||||
| chr1:27774182 | C | T | 4 | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 others(1): Show |
4 | HG00673.hp1 HG01952.hp1 HG04184.hp1 others(1): Show |
intron_variant | MODIFIER | c.118+757C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27774182 | |||||||
| chr1:27774210 | T | C | 90 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0108 others(87): Show |
99 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(96): Show |
intron_variant | MODIFIER | c.118+785T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27774210 | |||||||
| chr1:27774430 | G | A | 1 | a0001c0001t0003g0027 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.118+1005G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27774430 | |||||||
| chr1:27774509 | G | A | 1 | a0001c0001t0004g0028 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.118+1084G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27774509 | |||||||
| chr1:27774554 | T | C | 1 | a0001c0001t0001g0019 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.118+1129T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27774554 | |||||||
| chr1:27774654 | T | C | 95 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0001 others(92): Show |
106 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(103): Show |
intron_variant | MODIFIER | c.118+1229T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27774654 | |||||||
| chr1:27774669 | G | T | 1 | a0001c0001t0002g0009 | 2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.118+1244G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27774669 | |||||||
| chr1:27774674 | A | AAAAAAAT others(1): Show |
97 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0001 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.118+1252_118+1253i others(10): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27774674 | ||||||
| chr1:27775196 | A | G | 94 | a0001c0001t0001g0030 a0001c0001t0002g0001 a0001c0001t0002g0005 others(91): Show |
105 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(102): Show |
intron_variant | MODIFIER | c.118+1771A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27775196 | |||||||
| chr1:27775415 | G | A | 16 | a0001c0001t0001g0030 a0001c0001t0003g0006 a0001c0001t0003g0031 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.118+1990G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27775415 | |||||||
| chr1:27775583 | T | A | 1 | a0001c0001t0001g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.118+2158T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27775583 | |||||||
| chr1:27775591 | A | G | 1 | a0001c0001t0006g0107 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.118+2166A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27775591 | |||||||
| chr1:27775595 | T | C | 1 | a0001c0001t0002g0041 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.118+2170T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27775595 | |||||||
| chr1:27775741 | T | C | 1 | a0001c0001t0003g0042 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.118+2316T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27775741 | |||||||
| chr1:27775780 | G | C | 1 | a0001c0001t0001g0115 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.118+2355G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27775780 | |||||||
| chr1:27776149 | T | C | 46 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(43): Show |
51 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(48): Show |
intron_variant | MODIFIER | c.118+2724T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27776149 | |||||||
| chr1:27776248 | A | G | 1 | a0001c0001t0004g0028 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.118+2823A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27776248 | |||||||
| chr1:27776482 | A | G | 96 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(93): Show |
107 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.118+3057A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27776482 | |||||||
| chr1:27777317 | T | TA | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.118+3892_118+3893i others(3): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27777317 | |||||||
| chr1:27777480 | T | G | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.118+4055T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27777480 | |||||||
| chr1:27777624 | C | T | 1 | a0001c0001t0006g0107 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.118+4199C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27777624 | |||||||
| chr1:27778261 | G | A | 1 | a0001c0001t0004g0007 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.118+4836G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778261 | |||||||
| chr1:27778512 | G | A | 1 | a0001c0001t0001g0117 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.118+5087G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778512 | |||||||
| chr1:27778548 | G | A | 1 | a0001c0001t0002g0114 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.118+5123G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778548 | |||||||
| chr1:27778673 | G | A | 49 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(46): Show |
55 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.118+5248G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778673 | |||||||
| chr1:27778675 | C | T | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.118+5250C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778675 | |||||||
| chr1:27778683 | C | T | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.118+5258C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778683 | |||||||
| chr1:27778699 | G | GA | 15 | a0001c0001t0001g0020 a0001c0001t0001g0196 a0001c0001t0002g0068 others(12): Show |
17 | HG01069.hp2 HG01106.hp2 HG01884.hp1 others(14): Show |
intron_variant | MODIFIER | c.118+5290dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27778699 | ||||||
| chr1:27778719 | C | T | 1 | a0001c0001t0006g0107 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.118+5294C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778719 | |||||||
| chr1:27778878 | G | A | 1 | a0001c0001t0003g0031 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.118+5453G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778878 | |||||||
| chr1:27778885 | A | C | 1 | a0001c0001t0001g0195 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.118+5460A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27778885 | |||||||
| chr1:27779198 | T | C | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.118+5773T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779198 | |||||||
| chr1:27779327 | G | T | 1 | a0001c0001t0003g0031 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.118+5902G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779327 | |||||||
| chr1:27779333 | G | GT | 14 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0002g0001 others(11): Show |
16 | HG00544.hp1 HG00673.hp2 HG02040.hp2 others(13): Show |
intron_variant | MODIFIER | c.118+5917dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27779333 | ||||||
| chr1:27779333 | G | T | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.118+5908G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779333 | |||||||
| chr1:27779339 | T | TG | 6 | a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0051 others(3): Show |
6 | HG01884.hp2 HG02145.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.118+5914_118+5915i others(3): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779339 | |||||||
| chr1:27779339 | T | TTG | 14 | a0001c0001t0003g0027 a0001c0001t0003g0055 a0001c0001t0004g0004 others(11): Show |
17 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.118+5915_118+5916i others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27779339 | ||||||
| chr1:27779342 | T | G | 18 | a0001c0001t0003g0006 a0001c0001t0003g0032 a0001c0001t0003g0033 others(15): Show |
20 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.118+5917T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779342 | |||||||
| chr1:27779343 | G | GT | 19 | a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0111 others(16): Show |
22 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.118+5927dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27779343 | ||||||
| chr1:27779343 | G | T | 19 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(16): Show |
21 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(18): Show |
intron_variant | MODIFIER | c.118+5918G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779343 | |||||||
| chr1:27779345 | T | C | 1 | a0001c0001t0002g0071 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.118+5920T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779345 | |||||||
| chr1:27779346 | T | TG | 8 | a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0050 others(5): Show |
8 | HG01255.hp1 HG01884.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.118+5921_118+5922i others(3): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779346 | |||||||
| chr1:27779358 | A | G | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.118+5933A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779358 | |||||||
| chr1:27779482 | GC | G | 41 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(38): Show |
47 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.118+6059delC | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27779482 | ||||||
| chr1:27779570 | G | A | 50 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(47): Show |
56 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.118+6145G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779570 | |||||||
| chr1:27779591 | G | C | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.118+6166G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779591 | |||||||
| chr1:27779673 | G | A | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.118+6248G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779673 | |||||||
| chr1:27779722 | A | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.118+6297A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779722 | |||||||
| chr1:27779855 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.118+6430G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779855 | |||||||
| chr1:27779868 | C | T | 17 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(14): Show |
19 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(16): Show |
intron_variant | MODIFIER | c.118+6443C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779868 | |||||||
| chr1:27779869 | A | G | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.118+6444A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779869 | |||||||
| chr1:27779982 | G | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.118+6557G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27779982 | |||||||
| chr1:27780015 | T | C | 1 | a0001c0001t0008g0095 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.118+6590T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27780015 | |||||||
| chr1:27780071 | A | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.118+6646A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27780071 | |||||||
| chr1:27780209 | G | GT | 17 | a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0003g0006 others(14): Show |
19 | HG00597.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.118+6802dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27780209 | ||||||
| chr1:27780209 | G | GTT | 12 | a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0040 others(9): Show |
13 | HG00639.hp2 HG01243.hp2 HG01255.hp1 others(10): Show |
intron_variant | MODIFIER | c.118+6801_118+6802d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27780209 | ||||||
| chr1:27780209 | G | GTTT | 19 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 others(16): Show |
21 | HG01106.hp2 HG01884.hp1 HG01884.hp2 others(18): Show |
intron_variant | MODIFIER | c.118+6800_118+6802d others(5): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27780209 | ||||||
| chr1:27780209 | GT | G | 44 | a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0002g0001 others(41): Show |
50 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(47): Show |
intron_variant | MODIFIER | c.118+6802delT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27780209 | ||||||
| chr1:27780548 | G | A | 49 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(46): Show |
55 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.118+7123G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27780548 | |||||||
| chr1:27780578 | C | T | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.118+7153C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27780578 | |||||||
| chr1:27780709 | GGGGAGGC others(3220): Show |
G | 1 | a0001c0001t0002g0072 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.118+7298_119-5613d others(2): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27780709 | ||||||
| chr1:27780850 | G | A | 96 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(93): Show |
107 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.118+7425G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27780850 | |||||||
| chr1:27781113 | A | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.118+7688A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27781113 | |||||||
| chr1:27781328 | G | A | 1 | a0001c0001t0001g0183 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.118+7903G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27781328 | |||||||
| chr1:27781576 | C | A | 1 | a0001c0001t0001g0137 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.119-7986C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27781576 | |||||||
| chr1:27781942 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.119-7620G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27781942 | |||||||
| chr1:27782098 | GTTTT | G | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.119-7461_119-7458d others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27782098 | ||||||
| chr1:27782144 | C | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.119-7418C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782144 | |||||||
| chr1:27782169 | A | G | 96 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(93): Show |
107 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.119-7393A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782169 | |||||||
| chr1:27782247 | G | A | 1 | a0001c0001t0001g0172 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.119-7315G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782247 | |||||||
| chr1:27782257 | G | A | 48 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(45): Show |
54 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(51): Show |
intron_variant | MODIFIER | c.119-7305G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782257 | |||||||
| chr1:27782272 | T | A | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.119-7290T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782272 | |||||||
| chr1:27782287 | A | G | 1 | a0001c0001t0001g0172 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.119-7275A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782287 | |||||||
| chr1:27782288 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.119-7274C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782288 | |||||||
| chr1:27782339 | C | G | 47 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(44): Show |
53 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(50): Show |
intron_variant | MODIFIER | c.119-7223C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782339 | |||||||
| chr1:27782401 | T | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.119-7161T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782401 | |||||||
| chr1:27782528 | G | A | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.119-7034G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782528 | |||||||
| chr1:27782635 | C | G | 1 | a0001c0001t0001g0129 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.119-6927C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782635 | |||||||
| chr1:27782769 | G | C | 23 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(20): Show |
25 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.119-6793G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782769 | |||||||
| chr1:27782784 | T | C | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.119-6778T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782784 | |||||||
| chr1:27782848 | A | G | 1 | a0001c0001t0001g0017 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.119-6714A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27782848 | |||||||
| chr1:27783032 | C | T | 1 | a0001c0001t0001g0003 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.119-6530C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27783032 | |||||||
| chr1:27783092 | AATTTGAC others(4): Show |
A | 20 | a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0050 others(17): Show |
23 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(20): Show |
intron_variant | MODIFIER | c.119-6458_119-6448d others(13): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27783092 | ||||||
| chr1:27783121 | A | G | 1 | a0001c0001t0001g0130 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.119-6441A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27783121 | |||||||
| chr1:27783626 | C | T | 1 | a0001c0001t0001g0167 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.119-5936C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27783626 | |||||||
| chr1:27783712 | G | T | 2 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
2 | HG00738.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.119-5850G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27783712 | |||||||
| chr1:27783761 | T | C | 96 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(93): Show |
107 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.119-5801T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27783761 | |||||||
| chr1:27783769 | T | C | 23 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(20): Show |
25 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(22): Show |
intron_variant | MODIFIER | c.119-5793T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27783769 | |||||||
| chr1:27783781 | A | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.119-5781A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27783781 | |||||||
| chr1:27784073 | G | A | 1 | a0001c0001t0002g0071 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.119-5489G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784073 | |||||||
| chr1:27784107 | G | C | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.119-5455G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784107 | |||||||
| chr1:27784180 | CA | C | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.119-5370delA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27784180 | ||||||
| chr1:27784286 | T | C | 1 | a0001c0001t0001g0120 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.119-5276T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784286 | |||||||
| chr1:27784293 | T | G | 1 | a0001c0001t0002g0009 | 2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.119-5269T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784293 | |||||||
| chr1:27784324 | G | A | 2 | a0001c0001t0002g0073 a0001c0001t0002g0074 |
2 | HG02015.hp1 NA19081.hp2 |
intron_variant | MODIFIER | c.119-5238G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784324 | |||||||
| chr1:27784384 | C | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.119-5178C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784384 | |||||||
| chr1:27784449 | A | G | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.119-5113A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784449 | |||||||
| chr1:27784504 | G | A | 1 | a0001c0001t0001g0121 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.119-5058G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784504 | |||||||
| chr1:27784550 | T | C | 24 | a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0050 others(21): Show |
27 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.119-5012T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784550 | |||||||
| chr1:27784922 | A | G | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.119-4640A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27784922 | |||||||
| chr1:27785729 | A | C | 1 | a0001c0001t0003g0042 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.119-3833A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27785729 | |||||||
| chr1:27785963 | T | C | 16 | a0001c0001t0003g0006 a0001c0001t0003g0032 a0001c0001t0003g0033 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.119-3599T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27785963 | |||||||
| chr1:27786298 | TCTC | T | 43 | a0001c0001t0001g0122 a0001c0001t0003g0006 a0001c0001t0003g0027 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.119-3261_119-3259d others(5): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27786298 | ||||||
| chr1:27786579 | T | C | 1 | a0001c0001t0001g0123 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.119-2983T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27786579 | |||||||
| chr1:27787097 | A | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.119-2465A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27787097 | |||||||
| chr1:27787299 | T | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.119-2263T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27787299 | |||||||
| chr1:27787607 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.119-1955C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27787607 | |||||||
| chr1:27787637 | C | T | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.119-1925C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27787637 | |||||||
| chr1:27787658 | C | CA | 49 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(46): Show |
55 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.119-1892dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | 27787658 | ||||||
| chr1:27788565 | G | A | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.119-997G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27788565 | |||||||
| chr1:27788705 | T | A | 1 | a0001c0001t0005g0059 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.119-857T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27788705 | |||||||
| chr1:27788738 | G | A | 36 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(33): Show |
41 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(38): Show |
intron_variant | MODIFIER | c.119-824G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27788738 | |||||||
| chr1:27788761 | C | G | 2 | a0001c0001t0001g0190 a0001c0001t0001g0191 |
2 | HG02818.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.119-801C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27788761 | |||||||
| chr1:27789019 | A | T | 68 | a0001c0001t0001g0121 a0001c0001t0001g0188 a0001c0001t0001g0189 others(65): Show |
76 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(73): Show |
intron_variant | MODIFIER | c.119-543A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27789019 | |||||||
| chr1:27789023 | T | A | 1 | a0001c0001t0001g0124 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.119-539T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27789023 | |||||||
| chr1:27789120 | A | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.119-442A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27789120 | |||||||
| chr1:27789216 | T | G | 40 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(37): Show |
46 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(43): Show |
intron_variant | MODIFIER | c.119-346T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27789216 | |||||||
| chr1:27789233 | A | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.119-329A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27789233 | |||||||
| chr1:27789482 | G | C | 1 | a0001c0001t0001g0200 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.119-80G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27789482 | |||||||
| chr1:27789489 | A | G | 96 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(93): Show |
107 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.119-73A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 1/8 | chr1 | 27789489 | |||||||
| chr1:27789941 | A | G | 1 | a0001c0001t0001g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.188+310A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27789941 | |||||||
| chr1:27790177 | T | C | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.188+546T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27790177 | |||||||
| chr1:27790232 | G | A | 2 | a0001c0001t0001g0125 a0001c0001t0001g0126 |
2 | HG00408.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.188+601G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27790232 | |||||||
| chr1:27790233 | T | C | 37 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(34): Show |
42 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(39): Show |
intron_variant | MODIFIER | c.188+602T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27790233 | |||||||
| chr1:27790555 | C | T | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.188+924C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27790555 | |||||||
| chr1:27790677 | C | T | 37 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(34): Show |
42 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(39): Show |
intron_variant | MODIFIER | c.188+1046C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27790677 | |||||||
| chr1:27790874 | G | A | 1 | a0001c0001t0001g0127 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.188+1243G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27790874 | |||||||
| chr1:27791132 | G | A | 1 | a0001c0001t0008g0095 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.188+1501G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791132 | |||||||
| chr1:27791456 | C | T | 1 | a0001c0001t0003g0038 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.188+1825C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791456 | |||||||
| chr1:27791533 | A | C | 1 | a0001c0001t0005g0059 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.188+1902A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791533 | |||||||
| chr1:27791664 | A | C | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.189-1869A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791664 | |||||||
| chr1:27791851 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.189-1682G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791851 | |||||||
| chr1:27791857 | G | A | 5 | a0001c0001t0001g0124 a0001c0001t0007g0064 a0001c0001t0007g0065 others(2): Show |
5 | HG02258.hp1 HG02615.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.189-1676G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791857 | |||||||
| chr1:27791864 | GTCACAGC others(61): Show |
G | 1 | a0001c0001t0002g0105 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.189-1668_189-1601d others(70): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791864 | |||||||
| chr1:27791874 | C | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.189-1659C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791874 | |||||||
| chr1:27791916 | G | A | 1 | a0001c0001t0001g0183 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.189-1617G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791916 | |||||||
| chr1:27791941 | G | A | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.189-1592G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27791941 | |||||||
| chr1:27792099 | T | TATAA | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.189-1431_189-1430i others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792099 | ||||||
| chr1:27792105 | G | A | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.189-1428G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792105 | |||||||
| chr1:27792113 | A | T | 2 | a0001c0001t0004g0048 a0001c0001t0004g0049 |
2 | HG02055.hp2 HG02965.hp2 |
intron_variant | MODIFIER | c.189-1420A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792113 | |||||||
| chr1:27792118 | T | A | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.189-1415T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792118 | |||||||
| chr1:27792124 | ATATC | A | 2 | a0001c0001t0005g0060 a0001c0001t0005g0061 |
2 | HG02258.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.189-1405_189-1402d others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792124 | ||||||
| chr1:27792126 | AT | A | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.189-1406delT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792126 | |||||||
| chr1:27792128 | C | A | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.189-1405C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792128 | |||||||
| chr1:27792136 | G | C | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.189-1397G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792136 | |||||||
| chr1:27792140 | ATATCTAT others(7): Show |
A | 26 | a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0050 others(23): Show |
29 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.189-1379_189-1366d others(16): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792140 | ||||||
| chr1:27792144 | C | G | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.189-1389C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792144 | |||||||
| chr1:27792148 | ATATGTG | A | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.189-1381_189-1376d others(8): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792148 | ||||||
| chr1:27792152 | G | GTATATAC others(3): Show |
5 | a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0107 others(2): Show |
5 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.189-1380_189-1379i others(12): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792152 | ||||||
| chr1:27792152 | G | GTATATAC others(31): Show |
3 | a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0114 |
3 | HG02451.hp1 HG03239.hp1 NA18964.hp2 |
intron_variant | MODIFIER | c.189-1380_189-1379i others(40): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792152 | ||||||
| chr1:27792152 | G | GTATATAC others(59): Show |
37 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(34): Show |
43 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.189-1380_189-1379i others(68): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792152 | ||||||
| chr1:27792154 | G | A | 8 | a0001c0001t0002g0075 a0001c0001t0002g0097 a0001c0001t0006g0069 others(5): Show |
8 | HG01069.hp2 HG02155.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.189-1379G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792154 | |||||||
| chr1:27792156 | A | ATACATAT others(89): Show |
2 | a0001c0001t0002g0075 a0001c0001t0002g0097 |
2 | HG02155.hp1 NA19078.hp1 |
intron_variant | MODIFIER | c.189-1376_189-1375i others(98): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792156 | ||||||
| chr1:27792158 | C | A | 3 | a0001c0001t0002g0075 a0001c0001t0002g0097 a0001c0001t0012g0057 |
3 | HG02155.hp1 HG03139.hp2 NA19078.hp1 |
intron_variant | MODIFIER | c.189-1375C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792158 | |||||||
| chr1:27792158 | C | CTA | 37 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(34): Show |
43 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(40): Show |
intron_variant | MODIFIER | c.189-1369_189-1368d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792158 | ||||||
| chr1:27792158 | C | G | 5 | a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0107 others(2): Show |
5 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.189-1375C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792158 | |||||||
| chr1:27792160 | A | C | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.189-1373A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792160 | |||||||
| chr1:27792182 | G | A | 36 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(33): Show |
42 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(39): Show |
intron_variant | MODIFIER | c.189-1351G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792182 | |||||||
| chr1:27792184 | A | ATATATGT others(79): Show |
1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.189-1348_189-1347i others(88): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792184 | ||||||
| chr1:27792184 | A | ATATATGT others(229): Show |
3 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 |
3 | HG02886.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.189-1348_189-1347i others(238): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792184 | ||||||
| chr1:27792184 | A | ATATATGT others(259): Show |
1 | a0001c0001t0007g0067 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.189-1348_189-1347i others(268): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792184 | ||||||
| chr1:27792184 | A | ATATATGT others(107): Show |
2 | a0001c0001t0008g0095 a0001c0001t0008g0096 |
2 | HG03130.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.189-1348_189-1347i others(116): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792184 | ||||||
| chr1:27792184 | A | C | 36 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(33): Show |
42 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(39): Show |
intron_variant | MODIFIER | c.189-1349A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792184 | |||||||
| chr1:27792186 | C | A | 43 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(40): Show |
49 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(46): Show |
intron_variant | MODIFIER | c.189-1347C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792186 | |||||||
| chr1:27792186 | C | CTA | 45 | a0001c0001t0002g0075 a0001c0001t0002g0093 a0001c0001t0002g0097 others(42): Show |
50 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(47): Show |
intron_variant | MODIFIER | c.189-1341_189-1340d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792186 | ||||||
| chr1:27792186 | C | CTATATAT others(293): Show |
1 | a0001c0001t0005g0061 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.189-1340_189-1339i others(302): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792186 | ||||||
| chr1:27792192 | A | ATATGTAT others(23): Show |
1 | a0001c0001t0002g0092 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.189-1340_189-1339i others(32): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792192 | ||||||
| chr1:27792197 | T | TATACATA others(23): Show |
1 | a0001c0001t0001g0115 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.189-1307_189-1306i others(32): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792197 | ||||||
| chr1:27792214 | CTA | C | 2 | a0001c0001t0001g0126 a0001c0001t0001g0189 |
2 | HG00408.hp1 NA18612.hp1 |
intron_variant | MODIFIER | c.189-1311_189-1310d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792214 | ||||||
| chr1:27792216 | A | ATATATAT others(261): Show |
3 | a0001c0001t0005g0058 a0001c0001t0005g0060 a0001c0001t0005g0062 |
3 | HG02258.hp2 HG02451.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.189-1277_189-1276i others(270): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792216 | ||||||
| chr1:27792216 | A | ATATATAT others(289): Show |
1 | a0001c0001t0005g0059 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.189-1277_189-1276i others(298): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792216 | ||||||
| chr1:27792216 | A | ATATATAT others(259): Show |
1 | a0001c0001t0005g0063 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.189-1277_189-1276i others(268): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792216 | ||||||
| chr1:27792227 | T | G | 7 | a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0115 others(4): Show |
7 | HG00408.hp1 HG01074.hp1 HG02083.hp2 others(4): Show |
intron_variant | MODIFIER | c.189-1306T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792227 | |||||||
| chr1:27792227 | T | TATACATA others(23): Show |
6 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 others(3): Show |
6 | HG00738.hp1 HG01106.hp1 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.189-1199_189-1170d others(32): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792227 | ||||||
| chr1:27792227 | T | TATACATA others(53): Show |
1 | a0001c0002t0001g0184 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.189-1229_189-1170d others(62): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792227 | ||||||
| chr1:27792238 | ATG | A | 5 | a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0107 others(2): Show |
5 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.189-1293_189-1292d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792238 | ||||||
| chr1:27792245 | T | TATATATA others(9): Show |
7 | a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 others(4): Show |
7 | HG01243.hp1 HG02109.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.189-1277_189-1276i others(18): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792245 | ||||||
| chr1:27792247 | T | C | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.189-1286T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792247 | |||||||
| chr1:27792257 | G | GATACATA others(23): Show |
2 | a0001c0001t0001g0186 a0001c0001t0001g0187 |
2 | NA19070.hp1 NA19070.hp2 |
intron_variant | MODIFIER | c.189-1247_189-1246i others(32): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792257 | ||||||
| chr1:27792257 | G | T | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.189-1276G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792257 | |||||||
| chr1:27792274 | CTA | C | 2 | a0001c0001t0001g0200 a0001c0001t0003g0031 |
2 | HG01496.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.189-1251_189-1250d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792274 | ||||||
| chr1:27792277 | T | C | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.189-1256T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792277 | |||||||
| chr1:27792287 | G | T | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.189-1246G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792287 | |||||||
| chr1:27792298 | A | ATGTATAT others(69): Show |
7 | a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0039 others(4): Show |
9 | HG01069.hp1 HG01071.hp1 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.189-1230_189-1229i others(78): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792298 | ||||||
| chr1:27792307 | T | C | 2 | a0001c0001t0001g0108 a0001c0001t0001g0129 |
2 | HG02083.hp2 HG02976.hp2 |
intron_variant | MODIFIER | c.189-1226T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792307 | |||||||
| chr1:27792317 | G | T | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.189-1216G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792317 | |||||||
| chr1:27792320 | A | ACATATAT others(23): Show |
7 | a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 others(4): Show |
7 | HG01243.hp1 HG02109.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.189-1206_189-1205i others(32): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792320 | ||||||
| chr1:27792320 | A | ACATATAT others(81): Show |
2 | a0001c0001t0004g0007 a0001c0001t0004g0056 |
3 | HG00639.hp2 HG01243.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.189-1206_189-1205i others(90): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792320 | ||||||
| chr1:27792320 | A | G | 7 | a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0039 others(4): Show |
9 | HG01069.hp1 HG01071.hp1 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.189-1213A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792320 | |||||||
| chr1:27792328 | A | ATGTATCT others(105): Show |
1 | a0001c0001t0003g0050 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.189-1187_189-1186i others(114): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | ATGTATCT others(79): Show |
2 | a0001c0001t0003g0051 a0001c0001t0004g0018 |
2 | HG02145.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.189-1187_189-1186i others(88): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | ATGTATCT others(135): Show |
2 | a0001c0001t0003g0052 a0001c0001t0003g0053 |
2 | HG02572.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.189-1187_189-1186i others(144): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | ATGTATCT others(113): Show |
1 | a0001c0001t0003g0042 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.189-1187_189-1186i others(122): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | ATGTATCT others(83): Show |
8 | a0001c0001t0004g0004 a0001c0001t0004g0028 a0001c0001t0004g0043 others(5): Show |
10 | HG01106.hp2 HG02055.hp2 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.189-1187_189-1186i others(92): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | ATGTATCT others(133): Show |
1 | a0001c0001t0003g0054 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.189-1187_189-1186i others(142): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | ATGTATCT others(107): Show |
2 | a0001c0001t0003g0027 a0001c0001t0003g0055 |
2 | HG01255.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.189-1187_189-1186i others(116): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | ATGTATCT others(79): Show |
1 | a0001c0001t0004g0046 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.189-1194_189-1193i others(88): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792328 | ||||||
| chr1:27792328 | A | C | 16 | a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0034 others(13): Show |
19 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(16): Show |
intron_variant | MODIFIER | c.189-1205A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792328 | |||||||
| chr1:27792334 | C | CTATATAT others(81): Show |
1 | a0001c0001t0003g0032 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.189-1187_189-1186i others(90): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792334 | ||||||
| chr1:27792337 | T | C | 3 | a0001c0001t0001g0108 a0001c0001t0001g0131 a0001c0001t0001g0132 |
3 | HG02683.hp1 HG02976.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.189-1196T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792337 | |||||||
| chr1:27792347 | G | T | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.189-1186G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792347 | |||||||
| chr1:27792350 | A | ACATATAT others(83): Show |
1 | a0001c0001t0003g0031 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.189-1170_189-1169i others(92): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | 27792350 | ||||||
| chr1:27792364 | A | C | 1 | a0001c0001t0001g0185 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.189-1169A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792364 | |||||||
| chr1:27792806 | G | A | 2 | a0001c0001t0001g0133 a0001c0001t0001g0134 |
2 | HG01109.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.189-727G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792806 | |||||||
| chr1:27792917 | C | G | 41 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(38): Show |
47 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(44): Show |
intron_variant | MODIFIER | c.189-616C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792917 | |||||||
| chr1:27792928 | G | C | 14 | a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0034 others(11): Show |
16 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.189-605G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792928 | |||||||
| chr1:27792946 | G | A | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.189-587G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792946 | |||||||
| chr1:27792946 | G | C | 1 | a0001c0001t0003g0032 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.189-587G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27792946 | |||||||
| chr1:27793407 | T | C | 1 | a0001c0001t0002g0098 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.189-126T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 2/8 | chr1 | 27793407 | |||||||
| chr1:27793792 | T | C | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.288+160T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27793792 | |||||||
| chr1:27793815 | A | G | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.288+183A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27793815 | |||||||
| chr1:27793828 | C | G | 1 | a0001c0001t0001g0183 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.288+196C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27793828 | |||||||
| chr1:27793860 | G | A | 2 | a0001c0001t0001g0135 a0001c0001t0001g0136 |
2 | HG00738.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.288+228G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27793860 | |||||||
| chr1:27793994 | G | GT | 79 | a0001c0001t0001g0194 a0001c0001t0002g0001 a0001c0001t0002g0005 others(76): Show |
88 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.288+376dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27793994 | ||||||
| chr1:27793994 | G | GTT | 15 | a0001c0001t0002g0106 a0001c0001t0003g0006 a0001c0001t0003g0033 others(12): Show |
17 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(14): Show |
intron_variant | MODIFIER | c.288+375_288+376dup others(2): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27793994 | ||||||
| chr1:27794371 | A | G | 1 | a0001c0001t0002g0091 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.288+739A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27794371 | |||||||
| chr1:27794382 | A | C | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.288+750A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27794382 | |||||||
| chr1:27794554 | A | G | 2 | a0001c0001t0004g0007 a0001c0001t0004g0056 |
3 | HG00639.hp2 HG01243.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.288+922A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27794554 | |||||||
| chr1:27794963 | T | A | 1 | a0001c0001t0001g0135 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.288+1331T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27794963 | |||||||
| chr1:27794973 | T | C | 1 | a0001c0001t0001g0137 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.288+1341T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27794973 | |||||||
| chr1:27795117 | T | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.288+1485T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27795117 | |||||||
| chr1:27795423 | A | T | 1 | a0001c0001t0008g0096 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.288+1791A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27795423 | |||||||
| chr1:27795601 | TG | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.288+1971delG | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27795601 | ||||||
| chr1:27795604 | C | T | 3 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 |
3 | HG02056.hp2 HG02135.hp2 NA18962.hp1 |
intron_variant | MODIFIER | c.288+1972C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27795604 | |||||||
| chr1:27795787 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.288+2155G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27795787 | |||||||
| chr1:27795878 | T | C | 1 | a0001c0001t0002g0077 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.288+2246T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27795878 | |||||||
| chr1:27795928 | C | T | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.288+2296C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27795928 | |||||||
| chr1:27796232 | C | T | 1 | a0001c0001t0001g0174 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.288+2600C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27796232 | |||||||
| chr1:27796512 | T | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.288+2880T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27796512 | |||||||
| chr1:27796516 | C | T | 5 | a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0107 others(2): Show |
5 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.288+2884C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27796516 | |||||||
| chr1:27796552 | A | C | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.288+2920A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27796552 | |||||||
| chr1:27796703 | G | GT | 11 | a0001c0001t0001g0029 a0001c0001t0001g0121 a0001c0001t0001g0136 others(8): Show |
11 | HG00738.hp2 HG02080.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.288+3087dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27796703 | ||||||
| chr1:27796703 | GT | G | 38 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(35): Show |
44 | HG00544.hp1 HG00621.hp1 HG01069.hp2 others(41): Show |
intron_variant | MODIFIER | c.288+3087delT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27796703 | ||||||
| chr1:27796793 | C | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.288+3161C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27796793 | |||||||
| chr1:27796974 | G | A | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.288+3342G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27796974 | |||||||
| chr1:27797023 | CT | C | 6 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0077 others(3): Show |
9 | NA18943.hp1 NA18961.hp1 NA18962.hp2 others(6): Show |
intron_variant | MODIFIER | c.288+3402delT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797023 | ||||||
| chr1:27797144 | C | A | 1 | a0001c0001t0002g0091 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.288+3512C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27797144 | |||||||
| chr1:27797331 | G | A | 43 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.288+3699G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27797331 | |||||||
| chr1:27797415 | T | A | 1 | a0001c0001t0001g0129 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.288+3783T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27797415 | |||||||
| chr1:27797416 | T | A | 1 | a0001c0001t0001g0129 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.288+3784T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27797416 | |||||||
| chr1:27797486 | C | T | 2 | a0001c0001t0004g0007 a0001c0001t0004g0056 |
3 | HG00639.hp2 HG01243.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.288+3854C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27797486 | |||||||
| chr1:27797754 | T | A | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.289-3924T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27797754 | |||||||
| chr1:27797875 | A | AAC | 7 | a0001c0001t0001g0010 a0001c0001t0001g0026 a0001c0001t0001g0118 others(4): Show |
8 | HG01496.hp1 HG01496.hp2 HG02602.hp1 others(5): Show |
intron_variant | MODIFIER | c.289-3771_289-3770d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797875 | ||||||
| chr1:27797875 | A | AACAC | 30 | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0041 others(27): Show |
34 | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(31): Show |
intron_variant | MODIFIER | c.289-3773_289-3770d others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797875 | ||||||
| chr1:27797875 | A | AACACAC | 23 | a0001c0001t0001g0138 a0001c0001t0002g0008 a0001c0001t0002g0072 others(20): Show |
24 | HG01243.hp1 HG01255.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.289-3775_289-3770d others(8): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797875 | ||||||
| chr1:27797875 | A | AACACACA others(1): Show |
19 | a0001c0001t0002g0005 a0001c0001t0002g0077 a0001c0001t0003g0050 others(16): Show |
23 | HG01069.hp2 HG01106.hp2 HG01884.hp1 others(20): Show |
intron_variant | MODIFIER | c.289-3777_289-3770d others(10): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797875 | ||||||
| chr1:27797875 | A | AACACACA others(3): Show |
11 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0034 others(8): Show |
13 | HG01069.hp1 HG01071.hp1 HG02258.hp2 others(10): Show |
intron_variant | MODIFIER | c.289-3779_289-3770d others(12): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797875 | ||||||
| chr1:27797875 | A | AACACACA others(5): Show |
9 | a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0005g0058 others(6): Show |
9 | HG02055.hp1 HG02258.hp1 HG02451.hp2 others(6): Show |
intron_variant | MODIFIER | c.289-3781_289-3770d others(14): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797875 | ||||||
| chr1:27797875 | A | AACACACA others(7): Show |
2 | a0001c0001t0003g0032 a0001c0001t0005g0062 |
2 | HG02572.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.289-3783_289-3770d others(16): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797875 | ||||||
| chr1:27797891 | C | CACAT | 2 | a0001c0001t0002g0086 a0001c0001t0002g0090 |
2 | HG00597.hp1 HG02129.hp2 |
intron_variant | MODIFIER | c.289-3784_289-3783i others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27797891 | ||||||
| chr1:27798067 | A | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.289-3611A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798067 | |||||||
| chr1:27798263 | G | A | 1 | a0001c0001t0001g0021 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.289-3415G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798263 | |||||||
| chr1:27798364 | G | T | 1 | a0001c0001t0001g0168 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.289-3314G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798364 | |||||||
| chr1:27798417 | G | A | 1 | a0001c0001t0001g0140 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.289-3261G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798417 | |||||||
| chr1:27798419 | C | T | 1 | a0001c0001t0001g0167 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.289-3259C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798419 | |||||||
| chr1:27798613 | CCAGCCGG others(60): Show |
C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-3059_289-2993d others(69): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27798613 | ||||||
| chr1:27798619 | G | A | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.289-3059G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798619 | |||||||
| chr1:27798644 | C | CA | 14 | a0001c0001t0001g0014 a0001c0001t0001g0123 a0001c0001t0001g0142 others(11): Show |
14 | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(11): Show |
intron_variant | MODIFIER | c.289-3014dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27798644 | ||||||
| chr1:27798644 | CA | C | 86 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(83): Show |
97 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(94): Show |
intron_variant | MODIFIER | c.289-3014delA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27798644 | ||||||
| chr1:27798707 | A | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-2971A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798707 | |||||||
| chr1:27798780 | C | CA | 21 | a0001c0001t0001g0011 a0001c0001t0001g0115 a0001c0001t0001g0122 others(18): Show |
22 | HG00621.hp2 HG00738.hp1 HG00738.hp2 others(19): Show |
intron_variant | MODIFIER | c.289-2874dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27798780 | ||||||
| chr1:27798780 | CA | C | 50 | a0001c0001t0001g0017 a0001c0001t0001g0108 a0001c0001t0001g0164 others(47): Show |
57 | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.289-2874delA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27798780 | ||||||
| chr1:27798780 | CAA | C | 6 | a0001c0001t0002g0068 a0001c0001t0006g0070 a0001c0001t0007g0064 others(3): Show |
6 | HG01069.hp2 HG02258.hp1 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.289-2875_289-2874d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27798780 | ||||||
| chr1:27798953 | C | CA | 52 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(49): Show |
58 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(55): Show |
intron_variant | MODIFIER | c.289-2711dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27798953 | ||||||
| chr1:27798963 | A | C | 1 | a0001c0002t0001g0184 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.289-2715A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798963 | |||||||
| chr1:27798968 | C | A | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.289-2710C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27798968 | |||||||
| chr1:27799046 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-2632C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799046 | |||||||
| chr1:27799353 | G | A | 1 | a0001c0001t0002g0009 | 2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.289-2325G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799353 | |||||||
| chr1:27799370 | C | T | 50 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(47): Show |
56 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.289-2308C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799370 | |||||||
| chr1:27799376 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-2302C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799376 | |||||||
| chr1:27799477 | G | GT | 46 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(43): Show |
52 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.289-2190dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTT | 5 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(2): Show |
5 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.289-2193_289-2190d others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(2): Show |
8 | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0036 others(5): Show |
8 | HG02055.hp1 HG02109.hp1 HG02622.hp2 others(5): Show |
intron_variant | MODIFIER | c.289-2198_289-2190d others(11): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(3): Show |
3 | a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0010g0037 |
3 | HG02257.hp1 HG03098.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.289-2199_289-2190d others(12): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(4): Show |
2 | a0001c0001t0003g0033 a0001c0001t0003g0035 |
2 | HG01243.hp1 HG01891.hp1 |
intron_variant | MODIFIER | c.289-2200_289-2190d others(13): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(7): Show |
7 | a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0004g0043 others(4): Show |
7 | HG01243.hp2 HG01884.hp2 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.289-2190_289-2189i others(16): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(8): Show |
6 | a0001c0001t0003g0027 a0001c0001t0003g0053 a0001c0001t0004g0004 others(3): Show |
9 | HG00639.hp2 HG01106.hp2 HG02055.hp2 others(6): Show |
intron_variant | MODIFIER | c.289-2190_289-2189i others(17): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(9): Show |
3 | a0001c0001t0003g0055 a0001c0001t0004g0028 a0001c0001t0004g0046 |
3 | HG01255.hp1 HG01884.hp1 HG02559.hp2 |
intron_variant | MODIFIER | c.289-2190_289-2189i others(18): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(10): Show |
3 | a0001c0001t0003g0042 a0001c0001t0003g0052 a0001c0001t0004g0018 |
3 | HG02145.hp2 HG02572.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.289-2190_289-2189i others(19): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799477 | G | GTTTTTTT others(11): Show |
1 | a0001c0001t0003g0054 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.289-2190_289-2189i others(20): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27799477 | ||||||
| chr1:27799489 | G | T | 49 | a0001c0001t0002g0097 a0001c0001t0002g0114 a0001c0001t0003g0006 others(46): Show |
54 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(51): Show |
intron_variant | MODIFIER | c.289-2189G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799489 | |||||||
| chr1:27799628 | C | T | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.289-2050C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799628 | |||||||
| chr1:27799633 | G | A | 49 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(46): Show |
55 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.289-2045G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799633 | |||||||
| chr1:27799705 | A | G | 43 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.289-1973A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799705 | |||||||
| chr1:27799775 | G | A | 7 | a0001c0001t0003g0027 a0001c0001t0003g0050 a0001c0001t0003g0051 others(4): Show |
7 | HG01255.hp1 HG01884.hp2 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.289-1903G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799775 | |||||||
| chr1:27799787 | G | A | 1 | a0001c0001t0001g0142 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.289-1891G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799787 | |||||||
| chr1:27799835 | C | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-1843C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27799835 | |||||||
| chr1:27800155 | A | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.289-1523A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800155 | |||||||
| chr1:27800254 | C | G | 12 | a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0018 others(9): Show |
15 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.289-1424C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800254 | |||||||
| chr1:27800301 | C | T | 1 | a0001c0001t0001g0125 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.289-1377C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800301 | |||||||
| chr1:27800342 | G | A | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.289-1336G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800342 | |||||||
| chr1:27800473 | A | G | 43 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.289-1205A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800473 | |||||||
| chr1:27800478 | G | C | 5 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 others(2): Show |
5 | HG00639.hp1 HG02559.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.289-1200G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800478 | |||||||
| chr1:27800488 | G | GGT | 5 | a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0186 others(2): Show |
5 | HG01255.hp2 HG02683.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.289-1147_289-1146d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800488 | ||||||
| chr1:27800488 | GGT | G | 44 | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0014 others(41): Show |
51 | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(48): Show |
intron_variant | MODIFIER | c.289-1147_289-1146d others(4): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800488 | ||||||
| chr1:27800488 | GGTGT | G | 62 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(59): Show |
72 | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(69): Show |
intron_variant | MODIFIER | c.289-1149_289-1146d others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800488 | ||||||
| chr1:27800488 | GGTGTGTG others(1): Show |
G | 8 | a0001c0001t0003g0027 a0001c0001t0003g0031 a0001c0001t0003g0042 others(5): Show |
8 | HG01884.hp2 HG02145.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.289-1153_289-1146d others(10): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800488 | ||||||
| chr1:27800488 | GGTGTGTG others(3): Show |
G | 2 | a0001c0001t0002g0082 a0001c0001t0003g0032 |
2 | HG02080.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.289-1155_289-1146d others(12): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800488 | ||||||
| chr1:27800488 | GGTGTGTG others(5): Show |
G | 51 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(48): Show |
57 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(54): Show |
intron_variant | MODIFIER | c.289-1157_289-1146d others(14): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800488 | ||||||
| chr1:27800488 | GGTGTGTG others(7): Show |
G | 6 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(3): Show |
6 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.289-1159_289-1146d others(16): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800488 | ||||||
| chr1:27800529 | GTGT | G | 3 | a0001c0001t0001g0136 a0001c0001t0001g0153 a0001c0001t0001g0179 |
3 | HG00738.hp1 HG00738.hp2 NA19054.hp2 |
intron_variant | MODIFIER | c.289-1147_289-1145d others(5): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | 27800529 | ||||||
| chr1:27800679 | C | T | 1 | a0001c0001t0003g0042 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.289-999C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800679 | |||||||
| chr1:27800692 | T | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.289-986T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800692 | |||||||
| chr1:27800746 | T | A | 1 | a0001c0001t0001g0143 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.289-932T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27800746 | |||||||
| chr1:27801219 | C | T | 2 | a0001c0001t0002g0078 a0001c0001t0002g0088 |
2 | NA18977.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.289-459C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27801219 | |||||||
| chr1:27801262 | G | T | 43 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.289-416G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | chr1 | 27801262 | |||||||
| chr1:27801901 | A | G | 16 | a0001c0001t0003g0006 a0001c0001t0003g0031 a0001c0001t0003g0032 others(13): Show |
18 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.426+86A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27801901 | |||||||
| chr1:27801960 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.426+145C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27801960 | |||||||
| chr1:27802958 | T | C | 5 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(2): Show |
5 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.426+1143T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27802958 | |||||||
| chr1:27802999 | A | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.426+1184A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27802999 | |||||||
| chr1:27803050 | A | C | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.426+1235A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803050 | |||||||
| chr1:27803245 | A | G | 1 | a0001c0001t0002g0114 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.426+1430A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803245 | |||||||
| chr1:27803317 | A | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.426+1502A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803317 | |||||||
| chr1:27803342 | T | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.426+1527T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803342 | |||||||
| chr1:27803503 | A | G | 1 | a0001c0001t0002g0103 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.426+1688A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803503 | |||||||
| chr1:27803816 | A | G | 1 | a0001c0001t0002g0041 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.426+2001A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803816 | |||||||
| chr1:27803830 | T | C | 43 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.426+2015T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803830 | |||||||
| chr1:27803916 | G | A | 36 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(33): Show |
41 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(38): Show |
intron_variant | MODIFIER | c.426+2101G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803916 | |||||||
| chr1:27803961 | C | A | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.426+2146C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803961 | |||||||
| chr1:27803979 | C | T | 1 | a0001c0001t0002g0008 | 2 | NA18962.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.426+2164C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803979 | |||||||
| chr1:27803980 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.426+2165G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27803980 | |||||||
| chr1:27804028 | C | T | 1 | a0001c0001t0001g0124 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.426+2213C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27804028 | |||||||
| chr1:27804147 | C | T | 1 | a0001c0001t0003g0042 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.426+2332C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27804147 | |||||||
| chr1:27804295 | G | A | 43 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.426+2480G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27804295 | |||||||
| chr1:27804426 | C | CA | 96 | a0001c0001t0001g0154 a0001c0001t0001g0170 a0001c0001t0002g0001 others(93): Show |
107 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(104): Show |
intron_variant | MODIFIER | c.426+2620dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27804426 | ||||||
| chr1:27804462 | T | TA | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.426+2661dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27804462 | ||||||
| chr1:27804523 | T | G | 4 | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 others(1): Show |
4 | HG02602.hp2 HG03017.hp1 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.426+2708T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27804523 | |||||||
| chr1:27804682 | G | C | 2 | a0001c0001t0001g0196 a0001c0001t0001g0199 |
2 | HG00673.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.426+2867G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27804682 | |||||||
| chr1:27805105 | C | T | 2 | a0001c0001t0001g0193 a0001c0001t0001g0194 |
2 | NA18993.hp1 NA19000.hp2 |
intron_variant | MODIFIER | c.426+3290C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27805105 | |||||||
| chr1:27805461 | C | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.426+3646C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27805461 | |||||||
| chr1:27805537 | T | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.426+3722T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27805537 | |||||||
| chr1:27805594 | C | T | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.426+3779C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27805594 | |||||||
| chr1:27806264 | C | A | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.427-3982C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27806264 | |||||||
| chr1:27806376 | G | A | 1 | a0001c0001t0002g0009 | 2 | HG02683.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.427-3870G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27806376 | |||||||
| chr1:27806573 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.427-3673C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27806573 | |||||||
| chr1:27806769 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.427-3477G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27806769 | |||||||
| chr1:27806851 | A | G | 1 | a0001c0001t0002g0098 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.427-3395A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27806851 | |||||||
| chr1:27806985 | G | A | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.427-3261G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27806985 | |||||||
| chr1:27806997 | A | G | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.427-3249A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27806997 | |||||||
| chr1:27807006 | G | A | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.427-3240G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27807006 | |||||||
| chr1:27807059 | T | A | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.427-3187T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27807059 | |||||||
| chr1:27807165 | G | A | 1 | a0001c0001t0001g0181 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.427-3081G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27807165 | |||||||
| chr1:27807167 | T | C | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.427-3079T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27807167 | |||||||
| chr1:27807376 | G | A | 199 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(196): Show |
224 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.427-2870G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27807376 | |||||||
| chr1:27807556 | G | A | 1 | a0001c0001t0003g0036 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.427-2690G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27807556 | |||||||
| chr1:27807739 | T | C | 8 | a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 others(5): Show |
8 | HG01243.hp1 HG01891.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.427-2507T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27807739 | |||||||
| chr1:27808265 | T | G | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.427-1981T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27808265 | |||||||
| chr1:27808311 | T | A | 1 | a0001c0001t0003g0034 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.427-1935T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27808311 | |||||||
| chr1:27808311 | T | TTTTA | 28 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0029 others(25): Show |
30 | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(27): Show |
intron_variant | MODIFIER | c.427-1892_427-1889d others(6): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27808311 | ||||||
| chr1:27808311 | TTTTATTT others(1): Show |
T | 14 | a0001c0001t0002g0041 a0001c0001t0002g0093 a0001c0001t0004g0004 others(11): Show |
17 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.427-1896_427-1889d others(10): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27808311 | ||||||
| chr1:27808311 | TTTTATTT others(5): Show |
T | 54 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(51): Show |
60 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(57): Show |
intron_variant | MODIFIER | c.427-1900_427-1889d others(14): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27808311 | ||||||
| chr1:27808311 | TTTTATTT others(9): Show |
T | 1 | a0001c0001t0001g0174 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.427-1904_427-1889d others(18): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27808311 | ||||||
| chr1:27808311 | TTTTATTT others(13): Show |
T | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.427-1908_427-1889d others(22): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27808311 | ||||||
| chr1:27809011 | C | A | 37 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(34): Show |
42 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(39): Show |
intron_variant | MODIFIER | c.427-1235C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809011 | |||||||
| chr1:27809105 | G | C | 7 | a0001c0001t0003g0027 a0001c0001t0003g0050 a0001c0001t0003g0051 others(4): Show |
7 | HG01255.hp1 HG01884.hp2 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.427-1141G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809105 | |||||||
| chr1:27809124 | A | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.427-1122A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809124 | |||||||
| chr1:27809460 | C | CT | 87 | a0001c0001t0001g0130 a0001c0001t0002g0001 a0001c0001t0002g0005 others(84): Show |
98 | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(95): Show |
intron_variant | MODIFIER | c.427-768dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr1 | 27809460 | ||||||
| chr1:27809522 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.427-724G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809522 | |||||||
| chr1:27809554 | T | A | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.427-692T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809554 | |||||||
| chr1:27809648 | C | T | 14 | a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0034 others(11): Show |
16 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.427-598C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809648 | |||||||
| chr1:27809704 | C | A | 1 | a0001c0001t0001g0157 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.427-542C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809704 | |||||||
| chr1:27809749 | C | A | 12 | a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0018 others(9): Show |
15 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.427-497C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27809749 | |||||||
| chr1:27810050 | C | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.427-196C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27810050 | |||||||
| chr1:27810084 | C | G | 1 | a0001c0001t0001g0127 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.427-162C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27810084 | |||||||
| chr1:27810117 | A | G | 1 | a0001c0001t0001g0173 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.427-129A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27810117 | |||||||
| chr1:27810144 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.427-102C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 4/8 | chr1 | 27810144 | |||||||
| chr1:27810296 | G | C | 1 | a0001c0001t0001g0183 | 1 | HG01192.hp1 | splice_region_variant&intron_variant | LOW | c.470+7G>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27810296 | |||||||
| chr1:27810296 | G | T | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.470+7G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27810296 | |||||||
| chr1:27810374 | A | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.470+85A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27810374 | |||||||
| chr1:27810397 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+108C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27810397 | |||||||
| chr1:27810509 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+220C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27810509 | |||||||
| chr1:27810753 | A | G | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.470+464A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27810753 | |||||||
| chr1:27810896 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+607G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27810896 | |||||||
| chr1:27811086 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.470+797G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27811086 | |||||||
| chr1:27811096 | G | A | 8 | a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 others(5): Show |
8 | HG01243.hp1 HG01891.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.470+807G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27811096 | |||||||
| chr1:27811253 | A | G | 1 | a0001c0001t0001g0125 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.471-910A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27811253 | |||||||
| chr1:27811307 | C | CA | 56 | a0001c0001t0001g0163 a0001c0001t0001g0194 a0001c0001t0002g0001 others(53): Show |
62 | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.471-840dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | 27811307 | ||||||
| chr1:27811359 | C | G | 1 | a0001c0001t0001g0141 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.471-804C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27811359 | |||||||
| chr1:27811466 | T | C | 3 | a0001c0001t0001g0161 a0001c0001t0001g0190 a0001c0001t0001g0191 |
3 | HG02818.hp2 HG03041.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.471-697T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27811466 | |||||||
| chr1:27811552 | G | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.471-611G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27811552 | |||||||
| chr1:27811987 | A | G | 1 | a0001c0001t0008g0096 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.471-176A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 5/8 | chr1 | 27811987 | |||||||
| chr1:27812442 | T | TG | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.576+175dupG | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27812442 | ||||||
| chr1:27812443 | G | GT | 38 | a0001c0001t0001g0180 a0001c0001t0003g0006 a0001c0001t0003g0027 others(35): Show |
43 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(40): Show |
intron_variant | MODIFIER | c.576+186dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27812443 | ||||||
| chr1:27812443 | G | GTT | 51 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(48): Show |
57 | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(54): Show |
intron_variant | MODIFIER | c.576+185_576+186dup others(2): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27812443 | ||||||
| chr1:27812443 | G | T | 2 | a0001c0001t0002g0074 a0001c0001t0002g0097 |
2 | HG02015.hp1 NA19078.hp1 |
intron_variant | MODIFIER | c.576+175G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812443 | |||||||
| chr1:27812498 | G | A | 2 | a0001c0001t0008g0095 a0001c0001t0008g0096 |
2 | HG03130.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.576+230G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812498 | |||||||
| chr1:27812515 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.576+247C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812515 | |||||||
| chr1:27812541 | G | A | 1 | a0001c0001t0006g0069 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.576+273G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812541 | |||||||
| chr1:27812544 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.576+276C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812544 | |||||||
| chr1:27812599 | G | T | 1 | a0001c0001t0002g0080 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.576+331G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812599 | |||||||
| chr1:27812669 | G | GACC | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.576+402_576+404dup others(3): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27812669 | ||||||
| chr1:27812690 | A | G | 46 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(43): Show |
52 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.576+422A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812690 | |||||||
| chr1:27812754 | T | A | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.576+486T>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812754 | |||||||
| chr1:27812912 | A | C | 1 | a0001c0001t0002g0114 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.576+644A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812912 | |||||||
| chr1:27812918 | A | G | 5 | a0001c0001t0003g0006 a0001c0001t0003g0109 a0001c0001t0003g0110 others(2): Show |
7 | HG01069.hp1 HG01071.hp1 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.576+650A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812918 | |||||||
| chr1:27812953 | A | T | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.576+685A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27812953 | |||||||
| chr1:27813025 | A | G | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.576+757A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813025 | |||||||
| chr1:27813081 | C | G | 1 | a0001c0001t0005g0062 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.576+813C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813081 | |||||||
| chr1:27813172 | A | G | 43 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(40): Show |
48 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(45): Show |
intron_variant | MODIFIER | c.576+904A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813172 | |||||||
| chr1:27813177 | C | CT | 5 | a0001c0001t0001g0119 a0001c0001t0001g0163 a0001c0001t0001g0198 others(2): Show |
5 | HG01952.hp1 HG02145.hp1 HG03239.hp2 others(2): Show |
intron_variant | MODIFIER | c.576+923dupT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27813177 | ||||||
| chr1:27813240 | A | G | 1 | a0001c0001t0001g0166 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.576+972A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813240 | |||||||
| chr1:27813639 | C | A | 46 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(43): Show |
52 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.576+1371C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813639 | |||||||
| chr1:27813671 | C | T | 50 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(47): Show |
56 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(53): Show |
intron_variant | MODIFIER | c.576+1403C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813671 | |||||||
| chr1:27813905 | A | G | 49 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(46): Show |
55 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.576+1637A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813905 | |||||||
| chr1:27813948 | A | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.576+1680A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813948 | |||||||
| chr1:27813989 | T | C | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.576+1721T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27813989 | |||||||
| chr1:27814035 | A | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.576+1767A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814035 | |||||||
| chr1:27814282 | G | A | 14 | a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0034 others(11): Show |
16 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.576+2014G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814282 | |||||||
| chr1:27814287 | G | A | 1 | a0001c0001t0001g0139 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.576+2019G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814287 | |||||||
| chr1:27814391 | C | T | 1 | a0001c0001t0001g0115 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.576+2123C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814391 | |||||||
| chr1:27814438 | A | AG | 180 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(177): Show |
203 | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(200): Show |
intron_variant | MODIFIER | c.576+2171dupG | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27814438 | ||||||
| chr1:27814547 | TC | T | 36 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(33): Show |
41 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(38): Show |
intron_variant | MODIFIER | c.576+2281delC | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27814547 | ||||||
| chr1:27814570 | C | T | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.576+2302C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814570 | |||||||
| chr1:27814575 | G | A | 1 | a0001c0001t0001g0022 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.576+2307G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814575 | |||||||
| chr1:27814687 | A | G | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.576+2419A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814687 | |||||||
| chr1:27814825 | G | A | 40 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0014 others(37): Show |
46 | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(43): Show |
intron_variant | MODIFIER | c.576+2557G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814825 | |||||||
| chr1:27814837 | C | CA | 36 | a0001c0001t0002g0090 a0001c0001t0002g0103 a0001c0001t0003g0006 others(33): Show |
41 | HG00597.hp1 HG00639.hp2 HG01069.hp1 others(38): Show |
intron_variant | MODIFIER | c.576+2586dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27814837 | ||||||
| chr1:27814858 | A | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.576+2590A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814858 | |||||||
| chr1:27814868 | C | T | 5 | a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0107 others(2): Show |
5 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.576+2600C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814868 | |||||||
| chr1:27814924 | A | T | 1 | a0001c0001t0001g0124 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.576+2656A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27814924 | |||||||
| chr1:27815048 | A | G | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.576+2780A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815048 | |||||||
| chr1:27815154 | A | G | 1 | a0001c0001t0002g0084 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.577-2697A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815154 | |||||||
| chr1:27815282 | G | A | 1 | a0001c0001t0001g0162 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.577-2569G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815282 | |||||||
| chr1:27815360 | T | C | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.577-2491T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815360 | |||||||
| chr1:27815598 | C | T | 49 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(46): Show |
55 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(52): Show |
intron_variant | MODIFIER | c.577-2253C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815598 | |||||||
| chr1:27815599 | G | A | 8 | a0001c0001t0003g0027 a0001c0001t0003g0032 a0001c0001t0003g0050 others(5): Show |
8 | HG01255.hp1 HG01884.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.577-2252G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815599 | |||||||
| chr1:27815716 | G | A | 6 | a0001c0001t0001g0015 a0001c0001t0001g0026 a0001c0001t0001g0121 others(3): Show |
7 | HG00544.hp2 HG00738.hp1 HG01106.hp1 others(4): Show |
intron_variant | MODIFIER | c.577-2135G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815716 | |||||||
| chr1:27815787 | G | A | 4 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 others(1): Show |
4 | HG00639.hp1 HG02559.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.577-2064G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815787 | |||||||
| chr1:27815902 | G | A | 1 | a0001c0001t0003g0034 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.577-1949G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815902 | |||||||
| chr1:27815941 | C | T | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.577-1910C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815941 | |||||||
| chr1:27815996 | T | G | 1 | a0001c0001t0001g0133 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.577-1855T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27815996 | |||||||
| chr1:27816101 | A | C | 6 | a0001c0001t0002g0001 a0001c0001t0002g0102 a0001c0001t0002g0104 others(3): Show |
8 | HG02040.hp2 NA18747.hp2 NA18939.hp2 others(5): Show |
intron_variant | MODIFIER | c.577-1750A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816101 | |||||||
| chr1:27816273 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.577-1578C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816273 | |||||||
| chr1:27816300 | T | C | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.577-1551T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816300 | |||||||
| chr1:27816456 | A | G | 1 | a0001c0001t0003g0033 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.577-1395A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816456 | |||||||
| chr1:27816567 | A | G | 1 | a0001c0001t0001g0172 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.577-1284A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816567 | |||||||
| chr1:27816620 | A | G | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.577-1231A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816620 | |||||||
| chr1:27816657 | T | C | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.577-1194T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816657 | |||||||
| chr1:27816715 | A | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.577-1136A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816715 | |||||||
| chr1:27816864 | C | T | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.577-987C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816864 | |||||||
| chr1:27816989 | A | G | 8 | a0001c0001t0003g0027 a0001c0001t0003g0042 a0001c0001t0003g0050 others(5): Show |
8 | HG01255.hp1 HG01884.hp2 HG02145.hp1 others(5): Show |
intron_variant | MODIFIER | c.577-862A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27816989 | |||||||
| chr1:27817040 | AAG | A | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.577-806_577-805del others(2): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | 27817040 | ||||||
| chr1:27817660 | A | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.577-191A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27817660 | |||||||
| chr1:27817689 | T | C | 14 | a0001c0001t0003g0006 a0001c0001t0003g0033 a0001c0001t0003g0034 others(11): Show |
16 | HG01069.hp1 HG01071.hp1 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.577-162T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 6/8 | chr1 | 27817689 | |||||||
| chr1:27817956 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.649+33G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27817956 | |||||||
| chr1:27817980 | C | G | 1 | a0001c0001t0001g0154 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.649+57C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27817980 | |||||||
| chr1:27817997 | C | A | 5 | a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0107 others(2): Show |
5 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(2): Show |
intron_variant | MODIFIER | c.649+74C>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27817997 | |||||||
| chr1:27818208 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.649+285C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818208 | |||||||
| chr1:27818236 | C | G | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.649+313C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818236 | |||||||
| chr1:27818239 | C | G | 97 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(94): Show |
108 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(105): Show |
intron_variant | MODIFIER | c.649+316C>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818239 | |||||||
| chr1:27818251 | T | C | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.649+328T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818251 | |||||||
| chr1:27818329 | C | T | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.649+406C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818329 | |||||||
| chr1:27818384 | T | TA | 87 | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(84): Show |
98 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(95): Show |
intron_variant | MODIFIER | c.649+477dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | 27818384 | ||||||
| chr1:27818633 | C | CTT | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.649+722_649+723dup others(2): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | 27818633 | ||||||
| chr1:27818687 | T | C | 7 | a0001c0001t0002g0001 a0001c0001t0002g0100 a0001c0001t0002g0102 others(4): Show |
9 | HG00544.hp1 HG02040.hp2 NA18747.hp2 others(6): Show |
intron_variant | MODIFIER | c.649+764T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818687 | |||||||
| chr1:27818692 | C | T | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.649+769C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818692 | |||||||
| chr1:27818725 | G | A | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.649+802G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818725 | |||||||
| chr1:27818755 | G | A | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.649+832G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818755 | |||||||
| chr1:27818828 | A | G | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.650-822A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818828 | |||||||
| chr1:27818920 | C | T | 1 | a0001c0001t0001g0159 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.650-730C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818920 | |||||||
| chr1:27818934 | CT | C | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.650-708delT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | 27818934 | ||||||
| chr1:27818968 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.650-682C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27818968 | |||||||
| chr1:27819229 | A | G | 1 | a0001c0001t0001g0177 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.650-421A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27819229 | |||||||
| chr1:27819270 | T | TA | 84 | a0001c0001t0001g0175 a0001c0001t0002g0001 a0001c0001t0002g0005 others(81): Show |
95 | HG00408.hp2 HG00544.hp1 HG00597.hp1 others(92): Show |
intron_variant | MODIFIER | c.650-360dupA | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | 27819270 | ||||||
| chr1:27819429 | A | C | 1 | a0001c0001t0012g0057 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.650-221A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27819429 | |||||||
| chr1:27819466 | A | C | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.650-184A>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27819466 | |||||||
| chr1:27819493 | A | AT | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.650-157_650-156ins others(1): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27819493 | |||||||
| chr1:27819495 | A | G | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.650-155A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27819495 | |||||||
| chr1:27819582 | A | G | 12 | a0001c0001t0004g0004 a0001c0001t0004g0007 a0001c0001t0004g0018 others(9): Show |
15 | HG00639.hp2 HG01106.hp2 HG01243.hp2 others(12): Show |
intron_variant | MODIFIER | c.650-68A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 7/8 | chr1 | 27819582 | |||||||
| chr1:27819794 | A | G | 1 | a0001c0001t0001g0123 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.732+62A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27819794 | |||||||
| chr1:27819795 | T | C | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.732+63T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27819795 | |||||||
| chr1:27819814 | T | C | 1 | a0001c0001t0001g0154 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.732+82T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27819814 | |||||||
| chr1:27819966 | A | G | 4 | a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0107 others(1): Show |
4 | HG01069.hp2 HG02895.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.732+234A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27819966 | |||||||
| chr1:27820024 | A | G | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.732+292A>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820024 | |||||||
| chr1:27820171 | T | G | 6 | a0001c0001t0005g0058 a0001c0001t0005g0059 a0001c0001t0005g0060 others(3): Show |
6 | HG02258.hp2 HG02451.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.732+439T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820171 | |||||||
| chr1:27820205 | T | C | 1 | a0001c0001t0002g0068 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.732+473T>C | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820205 | |||||||
| chr1:27820216 | G | A | 1 | a0001c0001t0001g0167 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.732+484G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820216 | |||||||
| chr1:27820472 | C | T | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.732+740C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820472 | |||||||
| chr1:27820737 | C | T | 5 | a0001c0001t0001g0108 a0001c0001t0001g0161 a0001c0001t0001g0167 others(2): Show |
5 | HG02630.hp1 HG02818.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.732+1005C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820737 | |||||||
| chr1:27820738 | G | A | 1 | a0001c0001t0006g0113 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.732+1006G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820738 | |||||||
| chr1:27820881 | G | A | 1 | a0001c0001t0002g0072 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.732+1149G>A | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820881 | |||||||
| chr1:27820914 | T | G | 1 | a0001c0001t0001g0158 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.732+1182T>G | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27820914 | |||||||
| chr1:27821030 | G | T | 1 | a0001c0001t0002g0080 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.733-1201G>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27821030 | |||||||
| chr1:27821314 | A | T | 1 | a0001c0001t0001g0152 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.733-917A>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27821314 | |||||||
| chr1:27821504 | C | T | 1 | a0001c0001t0003g0201 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.733-727C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27821504 | |||||||
| chr1:27821516 | C | T | 4 | a0001c0001t0007g0064 a0001c0001t0007g0065 a0001c0001t0007g0066 others(1): Show |
4 | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.733-715C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27821516 | |||||||
| chr1:27821561 | AT | A | 47 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(44): Show |
52 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(49): Show |
intron_variant | MODIFIER | c.733-659delT | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | 27821561 | ||||||
| chr1:27822050 | C | T | 36 | a0001c0001t0003g0006 a0001c0001t0003g0027 a0001c0001t0003g0031 others(33): Show |
41 | HG00639.hp2 HG01069.hp1 HG01071.hp1 others(38): Show |
intron_variant | MODIFIER | c.733-181C>T | STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 8/8 | chr1 | 27822050 |