Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 6311 |
| ensemblid | ENSG00000204842.18 |
| hgncid | 10555 |
| symbol | ATXN2 |
| name | ataxin 2 |
| refseq_nuc | NM_001372574.1 |
| refseq_prot | NP_001359503.1 |
| ensembl_nuc | ENST00000673436.1 |
| ensembl_prot | ENSP00000500925.1 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 111452214 |
| end | 111599315 |
| strand | - |
| ver | v1.2 |
| region | chr12:111452214-111599315 |
| region5000 | chr12:111447214-111604315 |
| regionname0 | ATXN2_chr12_111452214_111599315 |
| regionname5000 | ATXN2_chr12_111447214_111604315 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/1 | 1154 | 159 | 32 | 23 | 74 | 4 | 25 | 54 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1149): Show |
chr12 | 111447214 | 111604315 |
| a0002 | 0/0 | 1154 | 77 | 7 | 11 | 56 | 0 | 3 | 45 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1149): Show |
chr12 | 111447214 | 111604315 |
| a0003 | 1/0 | 1155 | 46 | 33 | 6 | 4 | 0 | 2 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1150): Show |
chr12 | 111447214 | 111604315 |
| a0004 | 0/0 | 1152 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1147): Show |
chr12 | 111447214 | 111604315 |
| a0005 | 0/0 | 1159 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1154): Show |
chr12 | 111447214 | 111604315 |
| a0006 | 0/0 | 1156 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1151): Show |
chr12 | 111447214 | 111604315 |
| a0007 | 0/0 | 1151 | 2 | 0 | 0 | 2 | 0 | 0 | 2 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1146): Show |
chr12 | 111447214 | 111604315 |
| a0008 | 0/0 | 1154 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1149): Show |
chr12 | 111447214 | 111604315 |
| a0009 | 0/0 | 1161 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1156): Show |
chr12 | 111447214 | 111604315 |
| a0010 | 0/0 | 1155 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1150): Show |
chr12 | 111447214 | 111604315 |
| a0011 | 0/0 | 1155 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1150): Show |
chr12 | 111447214 | 111604315 |
| a0012 | 0/0 | 1155 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1150): Show |
chr12 | 111447214 | 111604315 |
| a0013 | 0/0 | 1159 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1154): Show |
chr12 | 111447214 | 111604315 |
| a0014 | 0/0 | 1159 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | MSLKP others(1154): Show |
chr12 | 111447214 | 111604315 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/1 | 3462 | 84 | 14 | 16 | 32 | 2 | 19 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0001c0003 | 0/0 | 3462 | 68 | 17 | 7 | 37 | 1 | 6 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0001c0007 | 0/0 | 3462 | 3 | 0 | 0 | 3 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0001c0010 | 0/0 | 3462 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0001c0019 | 0/0 | 3462 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0001c0026 | 0/0 | 3462 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0002c0002 | 0/0 | 3462 | 75 | 7 | 11 | 54 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0002c0016 | 0/0 | 3462 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0002c0017 | 0/0 | 3462 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0003c0004 | 0/0 | 3465 | 19 | 18 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3460): Show |
chr12 | 111447214 | 111604315 | ||
| a0003c0005 | 1/0 | 3465 | 14 | 4 | 3 | 4 | 0 | 2 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3460): Show |
chr12 | 111447214 | 111604315 | ||
| a0003c0006 | 0/0 | 3465 | 12 | 10 | 2 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3460): Show |
chr12 | 111447214 | 111604315 | ||
| a0003c0012 | 0/0 | 3465 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3460): Show |
chr12 | 111447214 | 111604315 | ||
| a0004c0008 | 0/0 | 3456 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3451): Show |
chr12 | 111447214 | 111604315 | ||
| a0004c0020 | 0/0 | 3456 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3451): Show |
chr12 | 111447214 | 111604315 | ||
| a0005c0021 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3472): Show |
chr12 | 111447214 | 111604315 | ||
| a0005c0023 | 0/0 | 3477 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3472): Show |
chr12 | 111447214 | 111604315 | ||
| a0006c0009 | 0/0 | 3468 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3463): Show |
chr12 | 111447214 | 111604315 | ||
| a0007c0011 | 0/0 | 3453 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3448): Show |
chr12 | 111447214 | 111604315 | ||
| a0008c0018 | 0/0 | 3462 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3457): Show |
chr12 | 111447214 | 111604315 | ||
| a0009c0022 | 0/0 | 3483 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3478): Show |
chr12 | 111447214 | 111604315 | ||
| a0010c0015 | 0/0 | 3465 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3460): Show |
chr12 | 111447214 | 111604315 | ||
| a0011c0013 | 0/0 | 3465 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3460): Show |
chr12 | 111447214 | 111604315 | ||
| a0012c0014 | 0/0 | 3465 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3460): Show |
chr12 | 111447214 | 111604315 | ||
| a0013c0025 | 0/0 | 3477 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3472): Show |
chr12 | 111447214 | 111604315 | ||
| a0014c0024 | 0/0 | 3477 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | ATGTC others(3472): Show |
chr12 | 111447214 | 111604315 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 4343 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0001c0001t0002 | 0/1 | 4344 | 60 | 7 | 15 | 23 | 2 | 12 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4339): Show |
chr12 | 111447214 | 111604315 |
| a0001c0001t0003 | 0/0 | 4344 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4339): Show |
chr12 | 111447214 | 111604315 |
| a0001c0001t0004 | 0/0 | 4343 | 14 | 0 | 1 | 9 | 0 | 4 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0001c0001t0006 | 0/0 | 4343 | 7 | 4 | 0 | 0 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0001c0003t0001 | 0/0 | 4343 | 60 | 17 | 3 | 34 | 1 | 5 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0001c0003t0003 | 0/0 | 4344 | 8 | 0 | 4 | 3 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4339): Show |
chr12 | 111447214 | 111604315 |
| a0001c0007t0007 | 0/0 | 4343 | 3 | 0 | 0 | 3 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0001c0010t0001 | 0/0 | 4343 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0001c0019t0002 | 0/0 | 4344 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4339): Show |
chr12 | 111447214 | 111604315 |
| a0001c0026t0001 | 0/0 | 4343 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0002c0002t0001 | 0/0 | 4343 | 72 | 6 | 10 | 53 | 0 | 3 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0002c0002t0003 | 0/0 | 4344 | 3 | 1 | 1 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4339): Show |
chr12 | 111447214 | 111604315 |
| a0002c0016t0001 | 0/0 | 4343 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0002c0017t0001 | 0/0 | 4343 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4338): Show |
chr12 | 111447214 | 111604315 |
| a0003c0004t0003 | 0/0 | 4347 | 13 | 12 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4342): Show |
chr12 | 111447214 | 111604315 |
| a0003c0004t0005 | 0/0 | 4348 | 5 | 5 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4343): Show |
chr12 | 111447214 | 111604315 |
| a0003c0004t0008 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4342): Show |
chr12 | 111447214 | 111604315 |
| a0003c0005t0001 | 0/0 | 4346 | 10 | 3 | 2 | 3 | 0 | 2 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4341): Show |
chr12 | 111447214 | 111604315 |
| a0003c0005t0003 | 1/0 | 4347 | 4 | 1 | 1 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4342): Show |
chr12 | 111447214 | 111604315 |
| a0003c0006t0003 | 0/0 | 4347 | 12 | 10 | 2 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4342): Show |
chr12 | 111447214 | 111604315 |
| a0003c0012t0003 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4342): Show |
chr12 | 111447214 | 111604315 |
| a0004c0008t0001 | 0/0 | 4337 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4332): Show |
chr12 | 111447214 | 111604315 |
| a0004c0020t0003 | 0/0 | 4338 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4333): Show |
chr12 | 111447214 | 111604315 |
| a0005c0021t0001 | 0/0 | 4358 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4353): Show |
chr12 | 111447214 | 111604315 |
| a0005c0023t0005 | 0/0 | 4360 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4355): Show |
chr12 | 111447214 | 111604315 |
| a0006c0009t0003 | 0/0 | 4350 | 2 | 2 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4345): Show |
chr12 | 111447214 | 111604315 |
| a0007c0011t0001 | 0/0 | 4334 | 2 | 0 | 0 | 2 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4329): Show |
chr12 | 111447214 | 111604315 |
| a0008c0018t0002 | 0/0 | 4344 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4339): Show |
chr12 | 111447214 | 111604315 |
| a0009c0022t0003 | 0/0 | 4365 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4360): Show |
chr12 | 111447214 | 111604315 |
| a0010c0015t0003 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4342): Show |
chr12 | 111447214 | 111604315 |
| a0011c0013t0005 | 0/0 | 4348 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4343): Show |
chr12 | 111447214 | 111604315 |
| a0012c0014t0003 | 0/0 | 4347 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4342): Show |
chr12 | 111447214 | 111604315 |
| a0013c0025t0001 | 0/0 | 4358 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4353): Show |
chr12 | 111447214 | 111604315 |
| a0014c0024t0001 | 0/0 | 4358 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | AGAGC others(4353): Show |
chr12 | 111447214 | 111604315 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0221 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0224 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0248 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0250 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0253 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0254 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0256 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0270 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0271 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0272 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0277 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0284 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0002g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0239 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0247 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0283 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0004g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0267 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0274 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0001t0006g0279 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0154 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0196 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0155 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0188 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0190 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0003t0003g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0007t0007g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0007t0007g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0007t0007g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0010t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0010t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0019t0002g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0001c0026t0001g0175 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0063 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0003g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0003g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0002t0003g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0016t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0002c0017t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0003g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0005g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0004t0008g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0130 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0003g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0003g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0003g0135 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0005t0003g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0006t0003g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0003c0012t0003g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0004c0008t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0004c0008t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0004c0020t0003g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0005c0021t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0005c0023t0005g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0006c0009t0003g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0006c0009t0003g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0007c0011t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0007c0011t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0008c0018t0002g0244 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0009c0022t0003g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0010c0015t0003g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0011c0013t0005g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0012c0014t0003g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0013c0025t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| a0014c0024t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0026 | t0001 | g0175 | EUR | GBR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00099 | hp2 | a0001 | c0001 | t0002 | g0250 | EUR | GBR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00408 | hp1 | a0001 | c0001 | t0002 | g0220 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00408 | hp2 | a0003 | c0005 | t0001 | g0134 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00544 | hp1 | a0001 | c0001 | t0002 | g0233 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00544 | hp2 | a0002 | c0002 | t0001 | g0072 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00597 | hp1 | a0002 | c0002 | t0001 | g0056 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00597 | hp2 | a0001 | c0003 | t0001 | g0204 | EAS | CHS | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0264 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG00642 | hp2 | a0003 | c0005 | t0001 | g0133 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01071 | hp1 | a0002 | c0002 | t0003 | g0053 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0269 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01081 | hp1 | a0001 | c0003 | t0001 | g0163 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0219 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01167 | hp1 | a0001 | c0003 | t0001 | g0158 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0284 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0243 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01168 | hp2 | a0003 | c0006 | t0003 | g0113 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0285 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01169 | hp2 | a0003 | c0006 | t0003 | g0112 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01243 | hp1 | a0003 | c0005 | t0001 | g0129 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01243 | hp2 | a0003 | c0004 | t0003 | g0021 | AMR | PUR | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01256 | hp1 | a0002 | c0002 | t0001 | g0066 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0270 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01258 | hp1 | a0002 | c0002 | t0001 | g0064 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01258 | hp2 | a0003 | c0005 | t0003 | g0128 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01361 | hp1 | a0001 | c0001 | t0002 | g0256 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01361 | hp2 | a0001 | c0003 | t0001 | g0180 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01433 | hp1 | a0002 | c0002 | t0001 | g0033 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01433 | hp2 | a0001 | c0001 | t0002 | g0272 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01496 | hp1 | a0001 | c0001 | t0002 | g0217 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01496 | hp2 | a0001 | c0003 | t0003 | g0189 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01884 | hp1 | a0003 | c0004 | t0005 | g0006 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01884 | hp2 | a0005 | c0021 | t0001 | g0120 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01928 | hp1 | a0002 | c0002 | t0001 | g0086 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01928 | hp2 | a0008 | c0018 | t0002 | g0244 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01943 | hp1 | a0001 | c0001 | t0002 | g0242 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01943 | hp2 | a0009 | c0022 | t0003 | g0121 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01952 | hp1 | a0002 | c0002 | t0001 | g0080 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01952 | hp2 | a0001 | c0003 | t0003 | g0187 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01975 | hp1 | a0002 | c0002 | t0001 | g0104 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01975 | hp2 | a0001 | c0001 | t0002 | g0218 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01993 | hp1 | a0002 | c0002 | t0001 | g0065 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01993 | hp2 | a0001 | c0001 | t0004 | g0240 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02027 | hp1 | a0002 | c0002 | t0001 | g0058 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02027 | hp2 | a0001 | c0003 | t0001 | g0197 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02040 | hp1 | a0002 | c0017 | t0001 | g0103 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02040 | hp2 | a0001 | c0003 | t0003 | g0167 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02055 | hp1 | a0003 | c0004 | t0005 | g0011 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02055 | hp2 | a0003 | c0006 | t0003 | g0115 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0278 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02056 | hp2 | a0001 | c0003 | t0001 | g0147 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02071 | hp1 | a0001 | c0010 | t0001 | g0168 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02071 | hp2 | a0001 | c0003 | t0001 | g0165 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02074 | hp1 | a0002 | c0002 | t0001 | g0081 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02074 | hp2 | a0001 | c0003 | t0001 | g0172 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02080 | hp1 | a0001 | c0001 | t0002 | g0280 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02080 | hp2 | a0002 | c0002 | t0001 | g0069 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02129 | hp1 | a0002 | c0002 | t0001 | g0076 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02129 | hp2 | a0001 | c0003 | t0001 | g0146 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02132 | hp1 | a0001 | c0003 | t0001 | g0141 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02132 | hp2 | a0002 | c0002 | t0001 | g0036 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02135 | hp1 | a0001 | c0001 | t0004 | g0216 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02135 | hp2 | a0001 | c0003 | t0001 | g0140 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02145 | hp1 | a0003 | c0005 | t0001 | g0131 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02145 | hp2 | a0002 | c0002 | t0001 | g0096 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02148 | hp1 | a0002 | c0002 | t0001 | g0063 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0292 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02155 | hp1 | a0002 | c0002 | t0001 | g0026 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02155 | hp2 | a0001 | c0003 | t0001 | g0139 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02165 | hp1 | a0002 | c0002 | t0001 | g0057 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02165 | hp2 | a0001 | c0003 | t0001 | g0200 | EAS | CDX | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02257 | hp1 | a0004 | c0020 | t0003 | g0119 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02257 | hp2 | a0001 | c0003 | t0001 | g0207 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02258 | hp1 | a0001 | c0003 | t0001 | g0159 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0252 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02273 | hp1 | a0002 | c0002 | t0001 | g0074 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02273 | hp2 | a0001 | c0003 | t0003 | g0188 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02280 | hp1 | a0003 | c0004 | t0003 | g0024 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02280 | hp2 | a0003 | c0006 | t0003 | g0114 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02293 | hp1 | a0001 | c0003 | t0003 | g0190 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0263 | AMR | PEL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02451 | hp1 | a0002 | c0002 | t0003 | g0095 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02451 | hp2 | a0001 | c0019 | t0002 | g0255 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02523 | hp1 | a0001 | c0003 | t0001 | g0150 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0251 | EAS | KHV | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02572 | hp1 | a0003 | c0006 | t0003 | g0117 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02572 | hp2 | a0001 | c0001 | t0002 | g0231 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02622 | hp1 | a0002 | c0002 | t0001 | g0025 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02630 | hp1 | a0003 | c0005 | t0003 | g0137 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0253 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02683 | hp1 | a0003 | c0005 | t0001 | g0130 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02683 | hp2 | a0001 | c0001 | t0006 | g0274 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02717 | hp1 | a0006 | c0009 | t0003 | g0106 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02717 | hp2 | a0001 | c0003 | t0001 | g0206 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0222 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02735 | hp2 | a0001 | c0001 | t0004 | g0239 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02738 | hp1 | a0001 | c0003 | t0001 | g0154 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0290 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02809 | hp1 | a0001 | c0003 | t0001 | g0211 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02809 | hp2 | a0003 | c0004 | t0003 | g0023 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02818 | hp1 | a0003 | c0006 | t0003 | g0109 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02818 | hp2 | a0001 | c0003 | t0001 | g0144 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02886 | hp1 | a0003 | c0006 | t0003 | g0116 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02886 | hp2 | a0001 | c0003 | t0001 | g0192 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02896 | hp1 | a0004 | c0008 | t0001 | g0002 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0258 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02897 | hp1 | a0001 | c0001 | t0003 | g0029 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02897 | hp2 | a0004 | c0008 | t0001 | g0001 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02965 | hp1 | a0001 | c0001 | t0006 | g0265 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02965 | hp2 | a0005 | c0023 | t0005 | g0122 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02970 | hp1 | a0003 | c0004 | t0003 | g0016 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02970 | hp2 | a0003 | c0005 | t0001 | g0125 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02976 | hp1 | a0010 | c0015 | t0003 | g0019 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02976 | hp2 | a0003 | c0004 | t0005 | g0007 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0238 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03017 | hp2 | a0002 | c0002 | t0001 | g0071 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0282 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03041 | hp2 | a0001 | c0003 | t0001 | g0208 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03098 | hp1 | a0001 | c0001 | t0006 | g0267 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03098 | hp2 | a0003 | c0004 | t0005 | g0018 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03130 | hp1 | a0001 | c0003 | t0001 | g0157 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03130 | hp2 | a0003 | c0004 | t0003 | g0014 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03139 | hp1 | a0001 | c0003 | t0001 | g0177 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03139 | hp2 | a0001 | c0003 | t0001 | g0182 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03195 | hp1 | a0001 | c0003 | t0001 | g0162 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0271 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03209 | hp1 | a0003 | c0004 | t0003 | g0008 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0249 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0027 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03225 | hp2 | a0006 | c0009 | t0003 | g0105 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03239 | hp1 | a0002 | c0002 | t0001 | g0052 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0230 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03453 | hp1 | a0003 | c0004 | t0003 | g0012 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03453 | hp2 | a0003 | c0006 | t0003 | g0111 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03486 | hp1 | a0001 | c0003 | t0001 | g0145 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03486 | hp2 | a0003 | c0012 | t0003 | g0003 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03490 | hp1 | a0001 | c0001 | t0006 | g0232 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03490 | hp2 | a0001 | c0003 | t0001 | g0170 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03492 | hp1 | a0001 | c0001 | t0004 | g0227 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03492 | hp2 | a0001 | c0003 | t0001 | g0171 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03516 | hp1 | a0003 | c0004 | t0003 | g0017 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03516 | hp2 | a0001 | c0003 | t0001 | g0191 | AFR | ESN | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03540 | hp1 | a0012 | c0014 | t0003 | g0005 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03540 | hp2 | a0002 | c0002 | t0001 | g0101 | AFR | GWD | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03579 | hp1 | a0003 | c0005 | t0001 | g0126 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03579 | hp2 | a0003 | c0006 | t0003 | g0108 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03654 | hp1 | a0001 | c0001 | t0006 | g0257 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03654 | hp2 | a0003 | c0005 | t0001 | g0138 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03669 | hp1 | a0001 | c0003 | t0003 | g0155 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03669 | hp2 | a0001 | c0001 | t0002 | g0221 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0229 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03704 | hp2 | a0001 | c0001 | t0002 | g0224 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03710 | hp1 | a0001 | c0001 | t0004 | g0247 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03710 | hp2 | a0001 | c0001 | t0002 | g0248 | SAS | PJL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03927 | hp1 | a0001 | c0001 | t0002 | g0228 | SAS | BEB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03927 | hp2 | a0001 | c0003 | t0001 | g0156 | SAS | BEB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04115 | hp1 | a0001 | c0001 | t0004 | g0283 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04115 | hp2 | a0001 | c0003 | t0001 | g0194 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04204 | hp1 | a0001 | c0001 | t0002 | g0223 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04204 | hp2 | a0002 | c0002 | t0001 | g0097 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0266 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0254 | SAS | STU | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18612 | hp1 | a0001 | c0003 | t0001 | g0142 | EAS | CHB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18612 | hp2 | a0002 | c0002 | t0001 | g0060 | EAS | CHB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18906 | hp1 | a0001 | c0003 | t0001 | g0210 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18906 | hp2 | a0003 | c0006 | t0003 | g0107 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18941 | hp1 | a0002 | c0002 | t0001 | g0038 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18941 | hp2 | a0001 | c0001 | t0002 | g0241 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18942 | hp1 | a0007 | c0011 | t0001 | g0214 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18942 | hp2 | a0001 | c0001 | t0002 | g0225 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18943 | hp1 | a0001 | c0001 | t0004 | g0245 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18943 | hp2 | a0002 | c0002 | t0001 | g0082 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18945 | hp1 | a0001 | c0003 | t0001 | g0173 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18945 | hp2 | a0002 | c0002 | t0001 | g0084 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18946 | hp1 | a0002 | c0002 | t0001 | g0040 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18946 | hp2 | a0001 | c0003 | t0001 | g0152 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18948 | hp1 | a0001 | c0001 | t0002 | g0289 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18948 | hp2 | a0002 | c0002 | t0001 | g0088 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18950 | hp1 | a0002 | c0002 | t0001 | g0089 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18950 | hp2 | a0001 | c0003 | t0001 | g0178 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18951 | hp1 | a0001 | c0003 | t0001 | g0185 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18951 | hp2 | a0002 | c0002 | t0001 | g0030 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18952 | hp1 | a0002 | c0002 | t0001 | g0044 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18952 | hp2 | a0001 | c0001 | t0004 | g0293 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18959 | hp1 | a0002 | c0002 | t0001 | g0093 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18959 | hp2 | a0001 | c0001 | t0002 | g0260 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18964 | hp1 | a0001 | c0003 | t0001 | g0202 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18964 | hp2 | a0002 | c0002 | t0001 | g0083 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18968 | hp1 | a0002 | c0002 | t0001 | g0035 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18968 | hp2 | a0001 | c0003 | t0001 | g0198 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18969 | hp1 | a0001 | c0003 | t0001 | g0196 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18969 | hp2 | a0002 | c0002 | t0001 | g0070 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18971 | hp1 | a0002 | c0002 | t0001 | g0067 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18971 | hp2 | a0001 | c0007 | t0007 | g0161 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18973 | hp1 | a0001 | c0001 | t0004 | g0246 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18973 | hp2 | a0001 | c0010 | t0001 | g0203 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18974 | hp1 | a0001 | c0001 | t0004 | g0226 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18974 | hp2 | a0002 | c0002 | t0001 | g0079 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0273 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18979 | hp2 | a0003 | c0005 | t0001 | g0132 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18980 | hp1 | a0002 | c0002 | t0001 | g0042 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18980 | hp2 | a0001 | c0007 | t0007 | g0199 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18981 | hp1 | a0002 | c0002 | t0001 | g0091 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18981 | hp2 | a0001 | c0003 | t0001 | g0174 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18982 | hp1 | a0001 | c0003 | t0001 | g0186 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18982 | hp2 | a0002 | c0002 | t0001 | g0090 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18983 | hp1 | a0001 | c0003 | t0001 | g0149 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18983 | hp2 | a0002 | c0002 | t0001 | g0031 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18984 | hp1 | a0001 | c0001 | t0002 | g0259 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18984 | hp2 | a0002 | c0002 | t0001 | g0102 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18985 | hp1 | a0001 | c0003 | t0001 | g0181 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18985 | hp2 | a0002 | c0002 | t0001 | g0037 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18986 | hp1 | a0002 | c0002 | t0001 | g0047 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18986 | hp2 | a0001 | c0001 | t0002 | g0275 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18989 | hp1 | a0002 | c0002 | t0001 | g0062 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18989 | hp2 | a0001 | c0003 | t0001 | g0184 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18991 | hp1 | a0002 | c0002 | t0003 | g0054 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18991 | hp2 | a0007 | c0011 | t0001 | g0213 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18992 | hp1 | a0001 | c0003 | t0003 | g0169 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18992 | hp2 | a0001 | c0001 | t0004 | g0295 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18994 | hp1 | a0001 | c0001 | t0002 | g0261 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18994 | hp2 | a0002 | c0002 | t0001 | g0050 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19000 | hp1 | a0002 | c0002 | t0001 | g0087 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19000 | hp2 | a0001 | c0003 | t0003 | g0205 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0236 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19004 | hp2 | a0002 | c0002 | t0001 | g0051 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19007 | hp1 | a0001 | c0001 | t0002 | g0291 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19007 | hp2 | a0002 | c0002 | t0001 | g0075 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19009 | hp1 | a0003 | c0005 | t0001 | g0136 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19009 | hp2 | a0002 | c0002 | t0001 | g0059 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19011 | hp1 | a0002 | c0002 | t0001 | g0046 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19011 | hp2 | a0001 | c0001 | t0004 | g0294 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19012 | hp1 | a0002 | c0002 | t0001 | g0043 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19012 | hp2 | a0001 | c0003 | t0001 | g0151 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19030 | hp1 | a0001 | c0001 | t0006 | g0279 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19030 | hp2 | a0003 | c0004 | t0005 | g0020 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19043 | hp1 | a0001 | c0003 | t0001 | g0164 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19043 | hp2 | a0003 | c0004 | t0003 | g0015 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19056 | hp1 | a0001 | c0001 | t0002 | g0286 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19056 | hp2 | a0013 | c0025 | t0001 | g0124 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19057 | hp1 | a0001 | c0003 | t0001 | g0179 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19057 | hp2 | a0002 | c0002 | t0001 | g0085 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19058 | hp1 | a0001 | c0003 | t0001 | g0212 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19058 | hp2 | a0002 | c0002 | t0001 | g0055 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19063 | hp1 | a0002 | c0002 | t0001 | g0092 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19063 | hp2 | a0001 | c0001 | t0002 | g0237 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19065 | hp1 | a0001 | c0007 | t0007 | g0160 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19065 | hp2 | a0001 | c0001 | t0004 | g0296 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19066 | hp1 | a0002 | c0002 | t0001 | g0068 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19066 | hp2 | a0001 | c0003 | t0001 | g0153 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19067 | hp1 | a0002 | c0002 | t0001 | g0098 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19067 | hp2 | a0001 | c0001 | t0002 | g0276 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19070 | hp1 | a0001 | c0003 | t0001 | g0176 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19070 | hp2 | a0002 | c0002 | t0001 | g0094 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19074 | hp1 | a0002 | c0002 | t0001 | g0041 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19074 | hp2 | a0014 | c0024 | t0001 | g0123 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19079 | hp1 | a0002 | c0002 | t0001 | g0049 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19079 | hp2 | a0001 | c0001 | t0002 | g0288 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19080 | hp1 | a0001 | c0001 | t0002 | g0287 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19080 | hp2 | a0002 | c0002 | t0001 | g0045 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19081 | hp1 | a0001 | c0003 | t0001 | g0148 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19081 | hp2 | a0002 | c0002 | t0001 | g0034 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19082 | hp1 | a0003 | c0005 | t0003 | g0127 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19082 | hp2 | a0002 | c0002 | t0001 | g0061 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19083 | hp1 | a0001 | c0001 | t0002 | g0234 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19083 | hp2 | a0001 | c0003 | t0001 | g0183 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19084 | hp1 | a0001 | c0003 | t0001 | g0201 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19084 | hp2 | a0002 | c0002 | t0001 | g0048 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19085 | hp1 | a0002 | c0002 | t0001 | g0039 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19085 | hp2 | a0001 | c0001 | t0002 | g0281 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19088 | hp1 | a0001 | c0003 | t0001 | g0143 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19088 | hp2 | a0002 | c0016 | t0001 | g0077 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19091 | hp1 | a0001 | c0001 | t0004 | g0297 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19091 | hp2 | a0001 | c0003 | t0001 | g0195 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19240 | hp1 | a0002 | c0002 | t0001 | g0099 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA19240 | hp2 | a0003 | c0006 | t0003 | g0110 | AFR | YRI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0262 | EUR | TSI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20752 | hp2 | a0001 | c0003 | t0001 | g0166 | EUR | TSI | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01123 | hp1 | a0002 | c0002 | t0001 | g0073 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG01123 | hp2 | a0001 | c0001 | t0002 | g0268 | AMR | CLM | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02109 | hp1 | a0001 | c0003 | t0001 | g0209 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02109 | hp2 | a0003 | c0006 | t0003 | g0118 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02486 | hp1 | a0003 | c0004 | t0003 | g0009 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02486 | hp2 | a0003 | c0004 | t0003 | g0022 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02559 | hp1 | a0003 | c0004 | t0003 | g0013 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG02559 | hp2 | a0002 | c0002 | t0001 | g0100 | AFR | ACB | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03471 | hp1 | a0001 | c0003 | t0001 | g0193 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| HG03471 | hp2 | a0011 | c0013 | t0005 | g0004 | AFR | MSL | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18955 | hp1 | a0001 | c0001 | t0002 | g0298 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA18955 | hp2 | a0002 | c0002 | t0001 | g0032 | EAS | JPT | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20300 | hp1 | a0002 | c0002 | t0001 | g0078 | AFR | USA | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA20300 | hp2 | a0003 | c0004 | t0003 | g0010 | AFR | USA | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA21309 | hp1 | a0003 | c0004 | t0008 | g0215 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| NA21309 | hp2 | a0001 | c0001 | t0006 | g0235 | AFR | LWK | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0277 | REF | REF | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| homoSapiens | grch38p0 | a0003 | c0005 | t0003 | g0135 | REF | REF | ATXN2_chr12_111447214_111604315 | ATXN2 | chr12 | 111447214 | 111604315 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111453770 | G | A | 1 | a0008 | 1 | HG01928.hp2 | missense_variant | MODERATE | c.3346C>T | p.Pro1116Ser | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/25 | 3627/4347 | 3346/3468 | 1116/1155 | chr12 | 111453770 | |||
| chr12:111488758 | T | C | 1 | a0010 | 1 | HG02976.hp1 | missense_variant | MODERATE | c.1958A>G | p.Glu653Gly | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/25 | 2239/4347 | 1958/3468 | 653/1155 | chr12 | 111488758 | |||
| chr12:111509950 | T | A | 1 | a0002 | 1 | HG02040.hp1 | missense_variant | MODERATE | c.1805A>T | p.Asn602Ile | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/25 | 2086/4347 | 1805/3468 | 602/1155 | chr12 | 111509950 | |||
| chr12:111518422 | T | C | 1 | a0001 | 1 | HG02451.hp2 | missense_variant | MODERATE | c.992A>G | p.Asn331Ser | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/25 | 1273/4347 | 992/3468 | 331/1155 | chr12 | 111518422 | |||
| chr12:111555908 | C | T | 3 | a0002 a0004 a0005 |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
missense_variant | MODERATE | c.263G>A | p.Ser88Asn | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/25 | 544/4347 | 263/3468 | 88/1155 | chr12 | 111555908 | |||
| chr12:111598890 | C | T | 1 | a0012 | 1 | HG03540.hp1 | missense_variant | MODERATE | c.145G>A | p.Ala49Thr | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 426/4347 | 145/3468 | 49/1155 | chr12 | 111598890 | |||
| chr12:111598949 | G | GGCTGCGG others(5): Show |
1 | a0013 | 1 | NA19056.hp2 | conservative_inframe_insertion | MODERATE | c.85_86insAGCCGCCGCA others(2): Show |
p.Gln28_Pro29insGlnP others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | |||
| chr12:111598949 | G | GGCTGCGG others(5): Show |
1 | a0014 | 1 | NA19074.hp2 | conservative_inframe_insertion | MODERATE | c.85_86insAGCAGCCGCA others(2): Show |
p.Gln28_Pro29insGlnG others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | |||
| chr12:111598949 | G | GGCTGCTG others(5): Show |
1 | a0005 | 1 | HG02965.hp2 | conservative_inframe_insertion | MODERATE | c.74_85dupAGCAGCAGCA others(2): Show |
p.Gln25_Gln28dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | |||
| chr12:111598949 | G | GGCTGCTG others(11): Show |
1 | a0009 | 1 | HG01943.hp2 | conservative_inframe_insertion | MODERATE | c.68_85dupAGCAGCAGCA others(8): Show |
p.Gln23_Gln28dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 85/3468 | 29/1155 | chr12 | 111598949 | |||
| chr12:111598949 | GGCT | G | 4 | a0001 a0002 a0003 others(1): Show |
248 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(245): Show |
disruptive_inframe_deletion | MODERATE | c.83_85delAGC | p.Gln28del | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 83/3468 | 28/1155 | chr12 | 111598949 | |||
| chr12:111598949 | GGCTGCTG others(5): Show |
G | 1 | a0007 | 2 | NA18942.hp1 NA18991.hp2 |
disruptive_inframe_deletion | MODERATE | c.74_85delAGCAGCAGCA others(2): Show |
p.Gln25_Gln28del | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 366/4347 | 74/3468 | 25/1155 | chr12 | 111598949 | |||
| chr12:111598951 | C | CTGCTGCT others(17): Show |
1 | a0003 | 1 | NA18979.hp2 | disruptive_inframe_insertion | MODERATE | c.83_84insACAGCAGCAG others(14): Show |
p.Gln21_Gln28dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 364/4347 | 83/3468 | 28/1155 | chr12 | 111598951 | |||
| chr12:111598952 | T | G | 1 | a0003 | 1 | HG01243.hp2 | missense_variant | MODERATE | c.83A>C | p.Gln28Pro | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 364/4347 | 83/3468 | 28/1155 | chr12 | 111598952 | |||
| chr12:111598963 | C | CTGCTGCT others(5): Show |
1 | a0005 | 1 | HG01884.hp2 | disruptive_inframe_insertion | MODERATE | c.71_72insACAGCAGCAG others(2): Show |
p.Gln21_Gln24dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 352/4347 | 71/3468 | 24/1155 | chr12 | 111598963 | |||
| chr12:111598969 | CTGCTGCT others(2): Show |
C | 1 | a0004 | 3 | HG02257.hp1 HG02896.hp1 HG02897.hp2 |
disruptive_inframe_deletion | MODERATE | c.57_65delACAGCAGCA | p.Gln20_Gln22del | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 346/4347 | 57/3468 | 19/1155 | chr12 | 111598969 | |||
| chr12:111598981 | C | G | 1 | a0011 | 1 | HG03471.hp2 | missense_variant | MODERATE | c.54G>C | p.Gln18His | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 335/4347 | 54/3468 | 18/1155 | chr12 | 111598981 | |||
| chr12:111598993 | C | CTGT | 2 | a0003 a0006 |
14 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(11): Show |
disruptive_inframe_insertion | MODERATE | c.41_42insACA | p.Gln14dup | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 322/4347 | 41/3468 | 14/1155 | chr12 | 111598993 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111457250 | T | C | 1 | a0001c0007 | 3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
synonymous_variant | LOW | c.3006A>G | p.Gln1002Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/25 | 3287/4347 | 3006/3468 | 1002/1155 | chr12 | 111457250 | |||
| chr12:111470121 | C | T | 1 | a0001c0010 | 2 | HG02071.hp1 NA18973.hp2 |
synonymous_variant | LOW | c.2829G>A | p.Thr943Thr | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/25 | 3110/4347 | 2829/3468 | 943/1155 | chr12 | 111470121 | |||
| chr12:111470741 | T | C | 1 | a0001c0026 | 1 | HG00099.hp1 | splice_region_variant&synonymous_variant | LOW | c.2526A>G | p.Val842Val | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 19/25 | 2807/4347 | 2526/3468 | 842/1155 | chr12 | 111470741 | |||
| chr12:111488505 | G | A | 1 | a0002c0016 | 1 | NA19088.hp2 | synonymous_variant | LOW | c.2211C>T | p.Asp737Asp | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/25 | 2492/4347 | 2211/3468 | 737/1155 | chr12 | 111488505 | |||
| chr12:111598975 | C | T | 4 | a0003c0004 a0003c0005 a0011c0013 others(1): Show |
24 | HG00408.hp2 HG01243.hp1 HG01258.hp2 others(21): Show |
synonymous_variant | LOW | c.60G>A | p.Gln20Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 341/4347 | 60/3468 | 20/1155 | chr12 | 111598975 | |||
| chr12:111598978 | T | C | 10 | a0003c0004 a0003c0005 a0005c0023 others(7): Show |
39 | HG00408.hp2 HG01243.hp1 HG01243.hp2 others(36): Show |
synonymous_variant | LOW | c.57A>G | p.Gln19Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 338/4347 | 57/3468 | 19/1155 | chr12 | 111598978 | |||
| chr12:111598984 | C | T | 1 | a0004c0008 | 2 | HG02896.hp1 HG02897.hp2 |
synonymous_variant | LOW | c.51G>A | p.Gln17Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 332/4347 | 51/3468 | 17/1155 | chr12 | 111598984 | |||
| chr12:111598993 | C | T | 11 | a0001c0001 a0001c0019 a0002c0002 others(8): Show |
185 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(182): Show |
synonymous_variant | LOW | c.42G>A | p.Gln14Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 323/4347 | 42/3468 | 14/1155 | chr12 | 111598993 | |||
| chr12:111598996 | C | T | 1 | a0003c0012 | 1 | HG03486.hp2 | synonymous_variant | LOW | c.39G>A | p.Gln13Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 320/4347 | 39/3468 | 13/1155 | chr12 | 111598996 | |||
| chr12:111598999 | C | T | 1 | a0004c0008 | 2 | HG02896.hp1 HG02897.hp2 |
synonymous_variant | LOW | c.36G>A | p.Gln12Gln | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 317/4347 | 36/3468 | 12/1155 | chr12 | 111598999 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111452342 | T | C | 2 | a0001c0001t0004 a0001c0007t0007 |
17 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*470A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 25/25 | 470 | chr12 | 111452342 | ||||||
| chr12:111452429 | A | AT | 3 | a0003c0004t0005 a0005c0023t0005 a0011c0013t0005 |
7 | HG01884.hp1 HG02055.hp1 HG02965.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*382dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 25/25 | 382 | chr12 | 111452429 | ||||||
| chr12:111452429 | AT | A | 16 | a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(13): Show |
180 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(177): Show |
3_prime_UTR_variant | MODIFIER | c.*382delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 25/25 | 382 | chr12 | 111452429 | ||||||
| chr12:111599125 | G | A | 5 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show |
82 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(79): Show |
5_prime_UTR_variant | MODIFIER | c.-91C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 91 | chr12 | 111599125 | ||||||
| chr12:111599175 | G | A | 1 | a0003c0004t0008 | 1 | NA21309.hp1 | 5_prime_UTR_variant | MODIFIER | c.-141C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 141 | chr12 | 111599175 | ||||||
| chr12:111599196 | G | C | 5 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(2): Show |
82 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(79): Show |
5_prime_UTR_variant | MODIFIER | c.-162C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/25 | 162 | chr12 | 111599196 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:111453239 | C | T | 1 | a0001c0003t0001g0204 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.3440-399G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/24 | chr12 | 111453239 | |||||||
| chr12:111453544 | C | T | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.3439+133G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/24 | chr12 | 111453544 | |||||||
| chr12:111453584 | C | T | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.3439+93G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 24/24 | chr12 | 111453584 | |||||||
| chr12:111454047 | G | C | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.3271-202C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454047 | |||||||
| chr12:111454063 | A | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.3271-218T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454063 | |||||||
| chr12:111454195 | A | G | 1 | a0002c0002t0001g0100 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.3271-350T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454195 | |||||||
| chr12:111454489 | T | C | 1 | a0001c0001t0002g0221 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.3271-644A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454489 | |||||||
| chr12:111454684 | C | T | 5 | a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 others(2): Show |
5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.3271-839G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454684 | |||||||
| chr12:111454881 | T | C | 71 | a0001c0003t0001g0148 a0002c0002t0001g0026 a0002c0002t0001g0030 others(68): Show |
71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.3271-1036A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111454881 | |||||||
| chr12:111455064 | T | C | 1 | a0002c0002t0001g0097 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.3270+965A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455064 | |||||||
| chr12:111455180 | T | G | 2 | a0002c0002t0001g0068 a0002c0002t0001g0070 |
2 | NA18969.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.3270+849A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455180 | |||||||
| chr12:111455187 | T | C | 3 | a0001c0003t0001g0149 a0001c0003t0001g0165 a0001c0003t0001g0202 |
3 | HG02071.hp2 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.3270+842A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455187 | |||||||
| chr12:111455733 | A | G | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.3270+296T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455733 | |||||||
| chr12:111455834 | G | C | 1 | a0001c0001t0001g0028 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.3270+195C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 23/24 | chr12 | 111455834 | |||||||
| chr12:111456268 | C | T | 82 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(79): Show |
82 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.3043-12G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456268 | |||||||
| chr12:111456374 | C | T | 4 | a0003c0004t0005g0006 a0003c0004t0005g0007 a0005c0023t0005g0122 others(1): Show |
4 | HG01884.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3043-118G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456374 | |||||||
| chr12:111456406 | T | G | 12 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(9): Show |
12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.3043-150A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456406 | |||||||
| chr12:111456427 | CA | C | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.3043-172delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456427 | |||||||
| chr12:111456483 | G | A | 83 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(80): Show |
83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.3043-227C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456483 | |||||||
| chr12:111456516 | C | T | 1 | a0001c0001t0006g0279 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.3043-260G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456516 | |||||||
| chr12:111456848 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.3042+366G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456848 | |||||||
| chr12:111456897 | A | C | 1 | a0006c0009t0003g0105 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3042+317T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111456897 | |||||||
| chr12:111457148 | C | T | 1 | a0003c0005t0001g0131 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3042+66G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 22/24 | chr12 | 111457148 | |||||||
| chr12:111457399 | C | G | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.2897-40G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457399 | |||||||
| chr12:111457405 | A | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2897-46T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457405 | |||||||
| chr12:111457415 | C | G | 1 | a0001c0003t0001g0139 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2897-56G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457415 | |||||||
| chr12:111457435 | T | G | 1 | a0001c0003t0001g0139 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2897-76A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457435 | |||||||
| chr12:111457468 | C | T | 85 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.2897-109G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457468 | |||||||
| chr12:111457794 | T | G | 2 | a0003c0004t0003g0009 a0003c0004t0005g0011 |
2 | HG02055.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.2897-435A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457794 | |||||||
| chr12:111457852 | G | A | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2897-493C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457852 | |||||||
| chr12:111457916 | G | A | 3 | a0001c0007t0007g0160 a0001c0007t0007g0161 a0001c0007t0007g0199 |
3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.2897-557C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457916 | |||||||
| chr12:111457925 | G | A | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2897-566C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111457925 | |||||||
| chr12:111458019 | C | T | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2897-660G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458019 | |||||||
| chr12:111458095 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2897-736T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458095 | |||||||
| chr12:111458166 | G | GAGATATA others(22): Show |
2 | a0003c0004t0005g0006 a0005c0023t0005g0122 |
2 | HG01884.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2897-836_2897-808d others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458166 | |||||||
| chr12:111458533 | T | C | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2897-1174A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458533 | |||||||
| chr12:111458558 | G | C | 4 | a0003c0004t0005g0006 a0003c0004t0005g0007 a0005c0023t0005g0122 others(1): Show |
4 | HG01884.hp1 HG02965.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.2897-1199C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458558 | |||||||
| chr12:111458824 | A | T | 1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2897-1465T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458824 | |||||||
| chr12:111458825 | T | A | 1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2897-1466A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111458825 | |||||||
| chr12:111459082 | C | T | 1 | a0003c0004t0005g0018 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2897-1723G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459082 | |||||||
| chr12:111459137 | A | C | 3 | a0001c0007t0007g0160 a0001c0007t0007g0161 a0001c0007t0007g0199 |
3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.2897-1778T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459137 | |||||||
| chr12:111459473 | C | T | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2897-2114G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459473 | |||||||
| chr12:111459575 | G | C | 83 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(80): Show |
83 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(80): Show |
intron_variant | MODIFIER | c.2897-2216C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459575 | |||||||
| chr12:111459587 | A | G | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2897-2228T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459587 | |||||||
| chr12:111459668 | G | A | 1 | a0001c0003t0003g0205 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.2897-2309C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459668 | |||||||
| chr12:111459681 | C | T | 2 | a0001c0001t0006g0257 a0003c0005t0001g0133 |
2 | HG00642.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.2897-2322G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459681 | |||||||
| chr12:111459799 | G | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2897-2440C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459799 | |||||||
| chr12:111459858 | C | T | 83 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(80): Show |
83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2897-2499G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459858 | |||||||
| chr12:111459951 | A | G | 1 | a0001c0003t0001g0181 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.2897-2592T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459951 | |||||||
| chr12:111459969 | G | A | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2897-2610C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111459969 | |||||||
| chr12:111460065 | T | A | 1 | a0001c0001t0002g0251 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2897-2706A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460065 | |||||||
| chr12:111460158 | C | T | 1 | a0001c0001t0002g0229 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2897-2799G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460158 | |||||||
| chr12:111460311 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2897-2952A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460311 | |||||||
| chr12:111460338 | T | C | 86 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(83): Show |
86 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(83): Show |
intron_variant | MODIFIER | c.2897-2979A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460338 | |||||||
| chr12:111460580 | G | GT | 11 | a0001c0001t0002g0231 a0001c0001t0002g0263 a0001c0001t0004g0283 others(8): Show |
11 | HG01123.hp1 HG02293.hp2 HG02572.hp2 others(8): Show |
intron_variant | MODIFIER | c.2897-3222dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111460580 | |||||||
| chr12:111461070 | T | C | 1 | a0011c0013t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.2896+3592A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461070 | |||||||
| chr12:111461472 | A | AAAAAT | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+3185_2896+318 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461472 | |||||||
| chr12:111461514 | A | T | 1 | a0001c0003t0001g0162 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2896+3148T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461514 | |||||||
| chr12:111461516 | T | A | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2896+3146A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461516 | |||||||
| chr12:111461598 | C | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+3064G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461598 | |||||||
| chr12:111461684 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+2978C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461684 | |||||||
| chr12:111461888 | C | CTCCA | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2896+2770_2896+277 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461888 | |||||||
| chr12:111461926 | GA | G | 164 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(161): Show |
164 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.2896+2735delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111461926 | |||||||
| chr12:111462030 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+2632T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462030 | |||||||
| chr12:111462443 | T | C | 1 | a0001c0001t0002g0259 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2896+2219A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462443 | |||||||
| chr12:111462489 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+2173C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462489 | |||||||
| chr12:111462695 | G | A | 1 | a0001c0001t0002g0230 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2896+1967C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462695 | |||||||
| chr12:111462963 | C | CAT | 8 | a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 others(5): Show |
8 | HG02572.hp2 HG02630.hp2 HG03041.hp1 others(5): Show |
intron_variant | MODIFIER | c.2896+1697_2896+169 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462963 | |||||||
| chr12:111462969 | T | C | 14 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(11): Show |
14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.2896+1693A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462969 | |||||||
| chr12:111462971 | T | C | 40 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(37): Show |
40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.2896+1691A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462971 | |||||||
| chr12:111462973 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+1689A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462973 | |||||||
| chr12:111462975 | T | C | 43 | a0001c0003t0001g0157 a0003c0004t0003g0008 a0003c0004t0003g0009 others(40): Show |
43 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.2896+1687A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462975 | |||||||
| chr12:111462975 | T | TAC | 54 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(51): Show |
54 | HG00099.hp1 HG00642.hp2 HG01243.hp1 others(51): Show |
intron_variant | MODIFIER | c.2896+1686_2896+168 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462975 | |||||||
| chr12:111462975 | T | TACAC | 23 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(20): Show |
23 | HG00597.hp2 HG01081.hp1 HG02056.hp2 others(20): Show |
intron_variant | MODIFIER | c.2896+1686_2896+168 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462975 | |||||||
| chr12:111462977 | T | C | 123 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0219 others(120): Show |
123 | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(120): Show |
intron_variant | MODIFIER | c.2896+1685A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | |||||||
| chr12:111462977 | T | TAC | 7 | a0001c0001t0002g0221 a0001c0003t0001g0177 a0001c0003t0001g0180 others(4): Show |
7 | HG01361.hp2 HG02040.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.2896+1683_2896+168 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | |||||||
| chr12:111462977 | T | TACACAC | 53 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(50): Show |
53 | HG00597.hp1 HG01071.hp1 HG01123.hp1 others(50): Show |
intron_variant | MODIFIER | c.2896+1679_2896+168 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | |||||||
| chr12:111462977 | T | TACACACA others(1): Show |
4 | a0002c0002t0001g0025 a0002c0002t0001g0062 a0002c0002t0001g0096 others(1): Show |
4 | HG02145.hp2 HG02622.hp1 NA18989.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+1677_2896+168 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | |||||||
| chr12:111462977 | T | TATACAC | 23 | a0001c0003t0001g0148 a0002c0002t0001g0030 a0002c0002t0001g0031 others(20): Show |
23 | HG00544.hp2 HG02132.hp2 NA18941.hp1 others(20): Show |
intron_variant | MODIFIER | c.2896+1684_2896+168 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462977 | |||||||
| chr12:111462979 | C | T | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2896+1683G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462979 | |||||||
| chr12:111462999 | C | T | 1 | a0003c0004t0005g0007 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2896+1663G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111462999 | |||||||
| chr12:111463001 | C | CACACACA others(5): Show |
1 | a0004c0020t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2896+1660_2896+166 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | |||||||
| chr12:111463001 | C | CACACACA others(7): Show |
6 | a0003c0004t0003g0013 a0003c0004t0003g0021 a0003c0006t0003g0108 others(3): Show |
6 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(3): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | |||||||
| chr12:111463001 | C | CACACACA others(5): Show |
12 | a0003c0004t0003g0009 a0003c0004t0003g0016 a0003c0004t0003g0017 others(9): Show |
12 | HG01943.hp2 HG02055.hp1 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | |||||||
| chr12:111463001 | C | CACACACA others(3): Show |
9 | a0003c0004t0003g0014 a0003c0004t0003g0015 a0003c0004t0005g0018 others(6): Show |
9 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | |||||||
| chr12:111463001 | C | CACACATA others(1): Show |
4 | a0003c0004t0003g0022 a0003c0004t0005g0006 a0003c0004t0008g0215 others(1): Show |
4 | HG01884.hp1 HG02486.hp2 HG02965.hp2 others(1): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | |||||||
| chr12:111463001 | C | CACATAT | 4 | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 others(1): Show |
4 | HG03209.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2896+1660_2896+166 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | |||||||
| chr12:111463001 | C | T | 1 | a0003c0004t0005g0007 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2896+1661G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463001 | |||||||
| chr12:111463004 | A | G | 37 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(34): Show |
37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.2896+1658T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463004 | |||||||
| chr12:111463024 | C | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+1638G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463024 | |||||||
| chr12:111463400 | C | A | 207 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(204): Show |
207 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(204): Show |
intron_variant | MODIFIER | c.2896+1262G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463400 | |||||||
| chr12:111463452 | G | A | 1 | a0003c0005t0001g0132 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.2896+1210C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463452 | |||||||
| chr12:111463669 | A | T | 1 | a0001c0003t0001g0201 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.2896+993T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463669 | |||||||
| chr12:111463753 | G | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+909C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463753 | |||||||
| chr12:111463897 | C | T | 2 | a0001c0003t0001g0186 a0001c0003t0003g0169 |
2 | NA18982.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.2896+765G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111463897 | |||||||
| chr12:111464083 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+579A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464083 | |||||||
| chr12:111464116 | T | C | 1 | a0001c0001t0002g0218 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2896+546A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464116 | |||||||
| chr12:111464247 | G | GGT | 91 | a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 others(88): Show |
91 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(88): Show |
intron_variant | MODIFIER | c.2896+413_2896+414d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | G | GGTGT | 29 | a0001c0001t0002g0281 a0001c0003t0001g0146 a0001c0003t0001g0147 others(26): Show |
29 | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(26): Show |
intron_variant | MODIFIER | c.2896+411_2896+414d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | G | GGTGTGT | 55 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(52): Show |
55 | HG01081.hp1 HG01243.hp1 HG01884.hp1 others(52): Show |
intron_variant | MODIFIER | c.2896+409_2896+414d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | G | GGTGTGTG others(1): Show |
15 | a0001c0001t0006g0267 a0001c0003t0001g0166 a0001c0003t0001g0198 others(12): Show |
15 | HG00099.hp1 HG02145.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.2896+407_2896+414d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | G | GGTGTGTG others(3): Show |
4 | a0001c0001t0006g0235 a0001c0001t0006g0279 a0001c0003t0001g0194 others(1): Show |
4 | HG03209.hp1 HG04115.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+405_2896+414d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | G | GGTGTGTG others(5): Show |
3 | a0001c0001t0006g0265 a0003c0004t0003g0015 a0003c0004t0005g0011 |
3 | HG02055.hp1 HG02965.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.2896+403_2896+414d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | G | GTGT | 5 | a0002c0002t0001g0037 a0002c0002t0001g0047 a0002c0002t0001g0087 others(2): Show |
5 | HG02145.hp2 HG04204.hp2 NA18985.hp2 others(2): Show |
intron_variant | MODIFIER | c.2896+414_2896+415i others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | G | T | 1 | a0002c0002t0001g0083 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2896+415C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464247 | GGT | G | 3 | a0001c0003t0001g0158 a0003c0004t0003g0022 a0007c0011t0001g0214 |
3 | HG01167.hp1 HG02486.hp2 NA18942.hp1 |
intron_variant | MODIFIER | c.2896+413_2896+414d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464247 | |||||||
| chr12:111464324 | GGTGTGTG others(9): Show |
G | 2 | a0003c0004t0005g0020 a0012c0014t0003g0005 |
2 | HG03540.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.2896+322_2896+337d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464324 | |||||||
| chr12:111464324 | GGTGTGTG others(11): Show |
G | 39 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(36): Show |
39 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.2896+320_2896+337d others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464324 | |||||||
| chr12:111464329 | G | GTGTGTT | 4 | a0001c0003t0001g0163 a0001c0003t0001g0191 a0001c0003t0001g0192 others(1): Show |
4 | HG01081.hp1 HG02886.hp2 HG03471.hp1 others(1): Show |
intron_variant | MODIFIER | c.2896+327_2896+332d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464329 | |||||||
| chr12:111464335 | T | TTG | 19 | a0001c0001t0002g0217 a0001c0001t0002g0229 a0001c0001t0002g0231 others(16): Show |
19 | HG01496.hp1 HG01952.hp2 HG01993.hp2 others(16): Show |
intron_variant | MODIFIER | c.2896+325_2896+326d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | |||||||
| chr12:111464335 | T | TTGTG | 25 | a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0236 others(22): Show |
25 | HG00597.hp1 HG02135.hp1 HG02735.hp1 others(22): Show |
intron_variant | MODIFIER | c.2896+323_2896+326d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | |||||||
| chr12:111464335 | T | TTGTGTG | 3 | a0001c0001t0002g0223 a0001c0001t0002g0271 a0001c0001t0004g0246 |
3 | HG03195.hp2 HG04204.hp1 NA18973.hp1 |
intron_variant | MODIFIER | c.2896+321_2896+326d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | |||||||
| chr12:111464335 | T | TTGTGTGT others(3): Show |
1 | a0001c0001t0004g0296 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.2896+317_2896+326d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | |||||||
| chr12:111464335 | TTG | T | 14 | a0001c0001t0002g0281 a0001c0003t0001g0158 a0001c0003t0003g0155 others(11): Show |
14 | HG00544.hp2 HG01167.hp1 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.2896+325_2896+326d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464335 | |||||||
| chr12:111464344 | T | G | 14 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(11): Show |
14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.2896+318A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464344 | |||||||
| chr12:111464451 | AT | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+210delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464451 | |||||||
| chr12:111464606 | C | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2896+56G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 21/24 | chr12 | 111464606 | |||||||
| chr12:111464786 | G | A | 1 | a0001c0003t0003g0190 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2843-71C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111464786 | |||||||
| chr12:111465095 | G | A | 1 | a0005c0021t0001g0120 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.2843-380C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465095 | |||||||
| chr12:111465295 | A | ATT | 38 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(35): Show |
38 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(35): Show |
intron_variant | MODIFIER | c.2843-582_2843-581d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465295 | |||||||
| chr12:111465295 | AT | A | 101 | a0001c0001t0002g0242 a0001c0001t0006g0265 a0001c0003t0001g0139 others(98): Show |
101 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(98): Show |
intron_variant | MODIFIER | c.2843-581delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465295 | |||||||
| chr12:111465358 | A | G | 1 | a0013c0025t0001g0124 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2843-643T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465358 | |||||||
| chr12:111465498 | G | A | 1 | a0001c0003t0001g0158 | 1 | HG01167.hp1 | intron_variant | MODIFIER | c.2843-783C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465498 | |||||||
| chr12:111465541 | G | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2843-826C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465541 | |||||||
| chr12:111465596 | C | A | 5 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(2): Show |
5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.2843-881G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465596 | |||||||
| chr12:111465657 | C | G | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2843-942G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465657 | |||||||
| chr12:111465767 | C | CA | 18 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(15): Show |
18 | HG01361.hp1 HG02165.hp2 HG02258.hp1 others(15): Show |
intron_variant | MODIFIER | c.2843-1053dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | |||||||
| chr12:111465767 | C | CAA | 49 | a0001c0001t0006g0257 a0001c0003t0001g0143 a0001c0003t0001g0147 others(46): Show |
49 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(46): Show |
intron_variant | MODIFIER | c.2843-1054_2843-105 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | |||||||
| chr12:111465767 | C | CAAA | 20 | a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 others(17): Show |
20 | HG01361.hp2 HG02071.hp1 HG02132.hp1 others(17): Show |
intron_variant | MODIFIER | c.2843-1055_2843-105 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | |||||||
| chr12:111465767 | CAA | C | 11 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0003c0004t0008g0215 others(8): Show |
11 | HG01943.hp2 HG02257.hp1 HG02630.hp1 others(8): Show |
intron_variant | MODIFIER | c.2843-1054_2843-105 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | |||||||
| chr12:111465767 | CAAA | C | 28 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(25): Show |
28 | HG01168.hp2 HG01169.hp2 HG01884.hp1 others(25): Show |
intron_variant | MODIFIER | c.2843-1055_2843-105 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | |||||||
| chr12:111465767 | CAAAAAA | C | 6 | a0002c0002t0001g0034 a0002c0002t0001g0049 a0002c0002t0001g0055 others(3): Show |
6 | NA18612.hp2 NA18948.hp2 NA18964.hp2 others(3): Show |
intron_variant | MODIFIER | c.2843-1058_2843-105 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | |||||||
| chr12:111465767 | CAAAAAAA | C | 76 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 others(73): Show |
76 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(73): Show |
intron_variant | MODIFIER | c.2843-1059_2843-105 others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465767 | |||||||
| chr12:111465888 | C | CA | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2843-1174_2843-117 others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111465888 | |||||||
| chr12:111466034 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2843-1319G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466034 | |||||||
| chr12:111466117 | G | C | 1 | a0002c0002t0001g0048 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.2843-1402C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466117 | |||||||
| chr12:111466172 | TA | T | 208 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0298 others(205): Show |
208 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(205): Show |
intron_variant | MODIFIER | c.2843-1458delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466172 | |||||||
| chr12:111466201 | T | A | 2 | a0001c0003t0001g0210 a0002c0002t0001g0100 |
2 | HG02559.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.2843-1486A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466201 | |||||||
| chr12:111466205 | A | T | 9 | a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0174 others(6): Show |
9 | NA18946.hp2 NA18950.hp2 NA18951.hp1 others(6): Show |
intron_variant | MODIFIER | c.2843-1490T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466205 | |||||||
| chr12:111466208 | A | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2843-1493T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466208 | |||||||
| chr12:111466567 | T | A | 283 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(280): Show |
283 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(280): Show |
intron_variant | MODIFIER | c.2843-1852A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466567 | |||||||
| chr12:111466594 | A | G | 1 | a0003c0004t0003g0014 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2843-1879T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466594 | |||||||
| chr12:111466883 | C | T | 1 | a0001c0001t0002g0225 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.2843-2168G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466883 | |||||||
| chr12:111466914 | A | G | 4 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(1): Show |
4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2843-2199T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111466914 | |||||||
| chr12:111467139 | T | C | 1 | a0001c0001t0002g0223 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2843-2424A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467139 | |||||||
| chr12:111467284 | A | G | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.2843-2569T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467284 | |||||||
| chr12:111467287 | C | A | 1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2843-2572G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467287 | |||||||
| chr12:111467307 | C | CT | 61 | a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 others(58): Show |
61 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(58): Show |
intron_variant | MODIFIER | c.2843-2593dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467307 | C | CTT | 34 | a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0298 others(31): Show |
34 | HG00597.hp2 HG01081.hp1 HG01243.hp2 others(31): Show |
intron_variant | MODIFIER | c.2843-2594_2843-259 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467307 | C | CTTT | 17 | a0001c0003t0001g0180 a0001c0003t0001g0191 a0001c0003t0001g0194 others(14): Show |
17 | HG01168.hp2 HG01361.hp2 HG02071.hp1 others(14): Show |
intron_variant | MODIFIER | c.2843-2595_2843-259 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467307 | C | CTTTT | 13 | a0003c0004t0003g0009 a0003c0004t0003g0013 a0003c0004t0003g0015 others(10): Show |
13 | HG01169.hp2 HG02055.hp1 HG02055.hp2 others(10): Show |
intron_variant | MODIFIER | c.2843-2596_2843-259 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467307 | CT | C | 46 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0225 others(43): Show |
46 | HG00597.hp1 HG01928.hp1 HG01943.hp1 others(43): Show |
intron_variant | MODIFIER | c.2843-2593delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467307 | CTT | C | 38 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(35): Show |
38 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(35): Show |
intron_variant | MODIFIER | c.2843-2594_2843-259 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467307 | CTTT | C | 9 | a0002c0002t0001g0025 a0002c0002t0001g0037 a0002c0002t0001g0083 others(6): Show |
9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.2843-2595_2843-259 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467307 | CTTTTTTT others(5): Show |
C | 1 | a0001c0003t0001g0202 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.2843-2604_2843-259 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467307 | |||||||
| chr12:111467354 | G | A | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2843-2639C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467354 | |||||||
| chr12:111467441 | C | T | 5 | a0001c0001t0006g0257 a0001c0003t0001g0177 a0001c0003t0001g0180 others(2): Show |
5 | HG00099.hp1 HG00642.hp2 HG01361.hp2 others(2): Show |
intron_variant | MODIFIER | c.2842+2667G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467441 | |||||||
| chr12:111467975 | T | G | 2 | a0001c0003t0001g0195 a0001c0003t0001g0196 |
2 | NA18969.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.2842+2133A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111467975 | |||||||
| chr12:111468190 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2842+1918T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468190 | |||||||
| chr12:111468535 | T | C | 1 | a0001c0001t0002g0249 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.2842+1573A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468535 | |||||||
| chr12:111468696 | C | CT | 6 | a0001c0001t0002g0228 a0001c0001t0002g0241 a0001c0001t0002g0278 others(3): Show |
6 | HG02027.hp1 HG02056.hp1 HG03927.hp1 others(3): Show |
intron_variant | MODIFIER | c.2842+1411dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | |||||||
| chr12:111468696 | C | CTTT | 42 | a0001c0001t0003g0029 a0001c0003t0001g0139 a0001c0003t0001g0146 others(39): Show |
42 | HG01169.hp2 HG01243.hp2 HG01943.hp2 others(39): Show |
intron_variant | MODIFIER | c.2842+1409_2842+141 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | |||||||
| chr12:111468696 | C | CTTTT | 68 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0006g0257 others(65): Show |
68 | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(65): Show |
intron_variant | MODIFIER | c.2842+1408_2842+141 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | |||||||
| chr12:111468696 | C | CTTTTT | 10 | a0001c0003t0001g0165 a0001c0003t0001g0194 a0001c0003t0001g0206 others(7): Show |
10 | HG00099.hp1 HG01243.hp1 HG02071.hp2 others(7): Show |
intron_variant | MODIFIER | c.2842+1407_2842+141 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | |||||||
| chr12:111468696 | CT | C | 66 | a0001c0001t0002g0270 a0001c0001t0004g0294 a0001c0001t0004g0297 others(63): Show |
66 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(63): Show |
intron_variant | MODIFIER | c.2842+1411delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111468696 | |||||||
| chr12:111469136 | A | G | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2842+972T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469136 | |||||||
| chr12:111469242 | C | T | 1 | a0001c0001t0002g0243 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2842+866G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469242 | |||||||
| chr12:111469550 | A | G | 4 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(1): Show |
4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.2842+558T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469550 | |||||||
| chr12:111469627 | A | AC | 283 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(280): Show |
283 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(280): Show |
intron_variant | MODIFIER | c.2842+480_2842+481i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 20/24 | chr12 | 111469627 | |||||||
| chr12:111470411 | GAAT | G | 5 | a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0176 others(2): Show |
5 | NA18946.hp2 NA18950.hp2 NA19012.hp2 others(2): Show |
intron_variant | MODIFIER | c.2709+144_2709+146d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 19/24 | chr12 | 111470411 | |||||||
| chr12:111470421 | T | A | 5 | a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0176 others(2): Show |
5 | NA18946.hp2 NA18950.hp2 NA19012.hp2 others(2): Show |
intron_variant | MODIFIER | c.2709+137A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 19/24 | chr12 | 111470421 | |||||||
| chr12:111470878 | C | G | 27 | a0003c0004t0003g0013 a0003c0004t0003g0014 a0003c0004t0003g0021 others(24): Show |
27 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.2525-136G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470878 | |||||||
| chr12:111470884 | C | T | 1 | a0007c0011t0001g0213 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2525-142G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470884 | |||||||
| chr12:111470885 | T | G | 1 | a0007c0011t0001g0213 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2525-143A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470885 | |||||||
| chr12:111470886 | C | A | 1 | a0007c0011t0001g0213 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.2525-144G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470886 | |||||||
| chr12:111470924 | T | C | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2525-182A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470924 | |||||||
| chr12:111470997 | C | A | 3 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0003t0003g0189 |
3 | HG01081.hp2 HG01496.hp2 HG01975.hp2 |
intron_variant | MODIFIER | c.2525-255G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111470997 | |||||||
| chr12:111471085 | G | T | 2 | a0001c0001t0002g0280 a0001c0001t0002g0298 |
2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.2525-343C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111471085 | |||||||
| chr12:111471150 | C | T | 1 | a0002c0002t0001g0025 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2525-408G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111471150 | |||||||
| chr12:111471662 | A | C | 1 | a0001c0019t0002g0255 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2525-920T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111471662 | |||||||
| chr12:111472002 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2525-1260G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472002 | |||||||
| chr12:111472110 | C | T | 1 | a0002c0002t0001g0075 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.2525-1368G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472110 | |||||||
| chr12:111472216 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-1474C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472216 | |||||||
| chr12:111472242 | C | T | 1 | a0001c0001t0002g0230 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2525-1500G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472242 | |||||||
| chr12:111472309 | C | A | 1 | a0009c0022t0003g0121 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.2525-1567G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472309 | |||||||
| chr12:111472415 | A | G | 283 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(280): Show |
283 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(280): Show |
intron_variant | MODIFIER | c.2525-1673T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472415 | |||||||
| chr12:111472511 | C | G | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2525-1769G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472511 | |||||||
| chr12:111472604 | G | A | 12 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(9): Show |
12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.2525-1862C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472604 | |||||||
| chr12:111472620 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-1878C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472620 | |||||||
| chr12:111472749 | T | C | 1 | a0001c0001t0002g0268 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2525-2007A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472749 | |||||||
| chr12:111472769 | T | C | 2 | a0001c0001t0002g0254 a0001c0001t0002g0266 |
2 | HG04228.hp1 HG04228.hp2 |
intron_variant | MODIFIER | c.2525-2027A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472769 | |||||||
| chr12:111472786 | C | G | 163 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(160): Show |
163 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(160): Show |
intron_variant | MODIFIER | c.2525-2044G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111472786 | |||||||
| chr12:111473032 | T | C | 1 | a0001c0001t0004g0246 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.2525-2290A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473032 | |||||||
| chr12:111473108 | G | A | 207 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(204): Show |
207 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(204): Show |
intron_variant | MODIFIER | c.2525-2366C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473108 | |||||||
| chr12:111473181 | G | A | 1 | a0001c0003t0001g0185 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.2525-2439C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473181 | |||||||
| chr12:111473282 | T | TA | 79 | a0001c0001t0001g0028 a0001c0001t0003g0029 a0001c0001t0004g0283 others(76): Show |
79 | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(76): Show |
intron_variant | MODIFIER | c.2525-2541dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473282 | |||||||
| chr12:111473282 | TA | T | 7 | a0001c0001t0004g0297 a0001c0003t0003g0188 a0002c0002t0001g0094 others(4): Show |
7 | HG02273.hp2 HG02897.hp2 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.2525-2541delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473282 | |||||||
| chr12:111473283 | A | T | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2525-2541T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473283 | |||||||
| chr12:111473301 | C | A | 2 | a0001c0001t0002g0225 a0001c0001t0002g0241 |
2 | NA18941.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.2525-2559G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473301 | |||||||
| chr12:111473306 | A | T | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.2525-2564T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473306 | |||||||
| chr12:111473481 | T | C | 83 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(80): Show |
83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2525-2739A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473481 | |||||||
| chr12:111473764 | GA | G | 159 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(156): Show |
159 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(156): Show |
intron_variant | MODIFIER | c.2525-3023delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473764 | |||||||
| chr12:111473764 | GAAA | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-3025_2525-302 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473764 | |||||||
| chr12:111473773 | A | G | 13 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(10): Show |
13 | HG01167.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.2525-3031T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473773 | |||||||
| chr12:111473986 | TG | T | 15 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(12): Show |
15 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.2525-3245delC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111473986 | |||||||
| chr12:111474134 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-3392G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474134 | |||||||
| chr12:111474148 | T | C | 3 | a0001c0003t0001g0149 a0001c0003t0001g0165 a0001c0003t0001g0202 |
3 | HG02071.hp2 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.2525-3406A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474148 | |||||||
| chr12:111474384 | T | C | 80 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(77): Show |
80 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(77): Show |
intron_variant | MODIFIER | c.2525-3642A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474384 | |||||||
| chr12:111474397 | C | CA | 163 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(160): Show |
163 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(160): Show |
intron_variant | MODIFIER | c.2525-3656dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474397 | |||||||
| chr12:111474511 | G | GGGAGAGG others(6): Show |
1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-3770_2525-376 others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474511 | |||||||
| chr12:111474559 | T | A | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-3817A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474559 | |||||||
| chr12:111474604 | T | A | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-3862A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474604 | |||||||
| chr12:111474611 | C | CA | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-3870dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474611 | |||||||
| chr12:111474780 | T | G | 71 | a0001c0003t0001g0148 a0002c0002t0001g0026 a0002c0002t0001g0030 others(68): Show |
71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.2525-4038A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474780 | |||||||
| chr12:111474852 | G | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-4110C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111474852 | |||||||
| chr12:111475096 | C | A | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-4354G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475096 | |||||||
| chr12:111475127 | T | C | 2 | a0003c0004t0003g0010 a0003c0004t0003g0012 |
2 | HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.2525-4385A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475127 | |||||||
| chr12:111475277 | G | C | 1 | a0001c0003t0001g0162 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2525-4535C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475277 | |||||||
| chr12:111475344 | C | CA | 12 | a0001c0001t0002g0290 a0001c0003t0001g0146 a0001c0003t0001g0206 others(9): Show |
12 | HG02109.hp1 HG02129.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.2525-4603dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475344 | |||||||
| chr12:111475344 | C | CAA | 37 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(34): Show |
37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.2525-4604_2525-460 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475344 | |||||||
| chr12:111475344 | CA | C | 83 | a0001c0001t0002g0220 a0001c0001t0002g0237 a0001c0003t0001g0144 others(80): Show |
83 | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(80): Show |
intron_variant | MODIFIER | c.2525-4603delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475344 | |||||||
| chr12:111475378 | AC | A | 4 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(1): Show |
4 | HG02970.hp1 HG03098.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.2525-4637delG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475378 | |||||||
| chr12:111475383 | TA | T | 47 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(44): Show |
47 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(44): Show |
intron_variant | MODIFIER | c.2525-4642delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475383 | |||||||
| chr12:111475430 | C | G | 1 | a0003c0006t0003g0108 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2525-4688G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475430 | |||||||
| chr12:111475487 | C | CT | 9 | a0001c0001t0002g0217 a0001c0001t0002g0290 a0001c0003t0001g0156 others(6): Show |
9 | HG01256.hp1 HG01496.hp1 HG01884.hp1 others(6): Show |
intron_variant | MODIFIER | c.2525-4746dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475487 | |||||||
| chr12:111475487 | CT | C | 10 | a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0241 others(7): Show |
10 | HG02559.hp1 HG02735.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.2525-4746delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475487 | |||||||
| chr12:111475489 | T | C | 1 | a0002c0002t0001g0085 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2525-4747A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475489 | |||||||
| chr12:111475709 | A | G | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.2525-4967T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475709 | |||||||
| chr12:111475850 | A | T | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-5108T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475850 | |||||||
| chr12:111475995 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-5253T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111475995 | |||||||
| chr12:111476052 | A | T | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-5310T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476052 | |||||||
| chr12:111476189 | G | C | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2525-5447C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476189 | |||||||
| chr12:111476191 | G | A | 1 | a0001c0003t0001g0156 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2525-5449C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476191 | |||||||
| chr12:111476345 | G | T | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-5603C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476345 | |||||||
| chr12:111476605 | G | A | 1 | a0001c0001t0002g0218 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2525-5863C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476605 | |||||||
| chr12:111476725 | C | T | 1 | a0001c0001t0002g0250 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.2525-5983G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476725 | |||||||
| chr12:111476763 | T | C | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2525-6021A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476763 | |||||||
| chr12:111476834 | A | T | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2525-6092T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476834 | |||||||
| chr12:111476837 | C | T | 27 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(24): Show |
27 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(24): Show |
intron_variant | MODIFIER | c.2525-6095G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111476837 | |||||||
| chr12:111477027 | C | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-6285G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477027 | |||||||
| chr12:111477180 | T | TA | 154 | a0001c0001t0002g0233 a0001c0001t0002g0256 a0001c0001t0002g0275 others(151): Show |
154 | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(151): Show |
intron_variant | MODIFIER | c.2525-6439dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477180 | |||||||
| chr12:111477180 | T | TAA | 7 | a0001c0001t0002g0286 a0001c0001t0006g0257 a0001c0003t0001g0154 others(4): Show |
7 | HG02258.hp1 HG02738.hp1 HG03654.hp1 others(4): Show |
intron_variant | MODIFIER | c.2525-6440_2525-643 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477180 | |||||||
| chr12:111477180 | TA | T | 41 | a0001c0001t0002g0252 a0001c0001t0002g0258 a0001c0001t0002g0289 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2525-6439delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477180 | |||||||
| chr12:111477554 | A | G | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2525-6812T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477554 | |||||||
| chr12:111477560 | C | T | 1 | a0003c0004t0005g0018 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.2525-6818G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477560 | |||||||
| chr12:111477923 | C | G | 1 | a0001c0001t0004g0227 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.2525-7181G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477923 | |||||||
| chr12:111477935 | G | A | 1 | a0001c0003t0001g0210 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.2525-7193C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477935 | |||||||
| chr12:111477965 | C | CT | 14 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(11): Show |
14 | HG00544.hp1 HG02135.hp2 HG02683.hp2 others(11): Show |
intron_variant | MODIFIER | c.2525-7224dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477965 | |||||||
| chr12:111477965 | C | CTT | 17 | a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 others(14): Show |
17 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(14): Show |
intron_variant | MODIFIER | c.2525-7225_2525-722 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477965 | |||||||
| chr12:111477972 | T | C | 2 | a0001c0001t0006g0257 a0003c0005t0001g0133 |
2 | HG00642.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.2525-7230A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111477972 | |||||||
| chr12:111478076 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+7189C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478076 | |||||||
| chr12:111478145 | A | AC | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2524+7119dupG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478145 | |||||||
| chr12:111478371 | G | A | 44 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(41): Show |
44 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(41): Show |
intron_variant | MODIFIER | c.2524+6894C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478371 | |||||||
| chr12:111478383 | G | A | 12 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0024 others(9): Show |
12 | HG01243.hp2 HG01943.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.2524+6882C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478383 | |||||||
| chr12:111478413 | A | C | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2524+6852T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478413 | |||||||
| chr12:111478477 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+6788G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478477 | |||||||
| chr12:111478772 | TGG | T | 27 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(24): Show |
27 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(24): Show |
intron_variant | MODIFIER | c.2524+6491_2524+649 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478772 | |||||||
| chr12:111478914 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2524+6351G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478914 | |||||||
| chr12:111478995 | T | A | 1 | a0003c0005t0003g0137 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2524+6270A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111478995 | |||||||
| chr12:111479047 | A | T | 6 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(3): Show |
6 | HG02735.hp1 HG03017.hp1 HG03704.hp2 others(3): Show |
intron_variant | MODIFIER | c.2524+6218T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479047 | |||||||
| chr12:111479370 | T | C | 1 | a0001c0001t0002g0292 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.2524+5895A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479370 | |||||||
| chr12:111479377 | A | T | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2524+5888T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479377 | |||||||
| chr12:111479390 | T | TA | 138 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(135): Show |
138 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(135): Show |
intron_variant | MODIFIER | c.2524+5874dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | |||||||
| chr12:111479390 | T | TAA | 20 | a0001c0003t0001g0147 a0001c0003t0001g0154 a0001c0003t0001g0156 others(17): Show |
20 | HG00597.hp1 HG00597.hp2 HG01884.hp2 others(17): Show |
intron_variant | MODIFIER | c.2524+5873_2524+587 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | |||||||
| chr12:111479390 | TA | T | 6 | a0001c0001t0002g0224 a0001c0001t0002g0258 a0001c0001t0002g0282 others(3): Show |
6 | HG02040.hp2 HG02273.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.2524+5874delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | |||||||
| chr12:111479390 | TAA | T | 26 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0022 others(23): Show |
26 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.2524+5873_2524+587 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | |||||||
| chr12:111479390 | TAAA | T | 15 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(12): Show |
15 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.2524+5872_2524+587 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479390 | |||||||
| chr12:111479419 | G | A | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2524+5846C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479419 | |||||||
| chr12:111479425 | G | C | 2 | a0001c0003t0001g0153 a0003c0005t0001g0132 |
2 | NA18979.hp2 NA19066.hp2 |
intron_variant | MODIFIER | c.2524+5840C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479425 | |||||||
| chr12:111479755 | C | G | 44 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(41): Show |
44 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(41): Show |
intron_variant | MODIFIER | c.2524+5510G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479755 | |||||||
| chr12:111479855 | TA | T | 207 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0219 others(204): Show |
207 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(204): Show |
intron_variant | MODIFIER | c.2524+5409delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479855 | |||||||
| chr12:111479916 | C | G | 3 | a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0253 |
3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.2524+5349G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111479916 | |||||||
| chr12:111480024 | CA | C | 6 | a0001c0003t0001g0191 a0001c0003t0001g0193 a0003c0006t0003g0109 others(3): Show |
6 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.2524+5240delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480024 | |||||||
| chr12:111480190 | GA | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+5074delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480190 | |||||||
| chr12:111480246 | T | C | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2524+5019A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480246 | |||||||
| chr12:111480247 | C | T | 1 | a0002c0002t0001g0055 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2524+5018G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480247 | |||||||
| chr12:111480693 | G | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+4572C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480693 | |||||||
| chr12:111480694 | G | A | 2 | a0001c0003t0001g0186 a0001c0003t0003g0169 |
2 | NA18982.hp1 NA18992.hp1 |
intron_variant | MODIFIER | c.2524+4571C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480694 | |||||||
| chr12:111480732 | G | A | 2 | a0004c0008t0001g0001 a0004c0008t0001g0002 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.2524+4533C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480732 | |||||||
| chr12:111480818 | T | C | 1 | a0001c0001t0002g0259 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2524+4447A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480818 | |||||||
| chr12:111480860 | G | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2524+4405C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111480860 | |||||||
| chr12:111481262 | C | T | 1 | a0002c0002t0001g0074 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2524+4003G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481262 | |||||||
| chr12:111481377 | G | A | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2524+3888C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481377 | |||||||
| chr12:111481425 | C | T | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2524+3840G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481425 | |||||||
| chr12:111481467 | C | G | 2 | a0001c0003t0001g0207 a0001c0003t0001g0208 |
2 | HG02257.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.2524+3798G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481467 | |||||||
| chr12:111481506 | C | CA | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.2524+3758dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481506 | |||||||
| chr12:111481599 | GCAGTTCC others(4): Show |
G | 2 | a0002c0002t0001g0081 a0002c0002t0001g0089 |
2 | HG02074.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.2524+3655_2524+366 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481599 | |||||||
| chr12:111481635 | G | T | 1 | a0001c0003t0001g0206 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.2524+3630C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481635 | |||||||
| chr12:111481661 | A | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+3604T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481661 | |||||||
| chr12:111481834 | G | A | 83 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(80): Show |
83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2524+3431C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111481834 | |||||||
| chr12:111482069 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+3196T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482069 | |||||||
| chr12:111482190 | A | AT | 6 | a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 others(3): Show |
6 | HG01071.hp2 HG03195.hp2 NA18959.hp2 others(3): Show |
intron_variant | MODIFIER | c.2524+3074dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | |||||||
| chr12:111482190 | AT | A | 105 | a0001c0001t0001g0027 a0001c0001t0002g0222 a0001c0001t0002g0223 others(102): Show |
105 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(102): Show |
intron_variant | MODIFIER | c.2524+3074delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | |||||||
| chr12:111482190 | ATT | A | 83 | a0001c0001t0002g0238 a0001c0003t0001g0144 a0001c0003t0001g0145 others(80): Show |
83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2524+3073_2524+307 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | |||||||
| chr12:111482190 | ATTT | A | 37 | a0002c0002t0001g0035 a0002c0002t0001g0060 a0003c0004t0003g0008 others(34): Show |
37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.2524+3072_2524+307 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482190 | |||||||
| chr12:111482311 | C | T | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2524+2954G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482311 | |||||||
| chr12:111482364 | G | T | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.2524+2901C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482364 | |||||||
| chr12:111482416 | G | T | 1 | a0001c0001t0002g0290 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.2524+2849C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482416 | |||||||
| chr12:111482425 | A | G | 24 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(21): Show |
24 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(21): Show |
intron_variant | MODIFIER | c.2524+2840T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482425 | |||||||
| chr12:111482491 | A | C | 127 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(124): Show |
127 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(124): Show |
intron_variant | MODIFIER | c.2524+2774T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482491 | |||||||
| chr12:111482833 | TA | T | 8 | a0001c0001t0002g0222 a0001c0001t0002g0288 a0001c0007t0007g0160 others(5): Show |
8 | HG02735.hp1 NA18942.hp1 NA18971.hp2 others(5): Show |
intron_variant | MODIFIER | c.2524+2431delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482833 | |||||||
| chr12:111482879 | T | C | 1 | a0002c0002t0001g0094 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.2524+2386A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111482879 | |||||||
| chr12:111483068 | C | T | 1 | a0001c0001t0002g0276 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.2524+2197G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483068 | |||||||
| chr12:111483167 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+2098C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483167 | |||||||
| chr12:111483188 | A | AAC | 16 | a0001c0003t0001g0142 a0001c0003t0001g0147 a0001c0003t0001g0151 others(13): Show |
16 | HG00408.hp2 HG00642.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.2524+2075_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | A | AACAC | 3 | a0001c0003t0001g0152 a0003c0005t0001g0136 a0003c0006t0003g0116 |
3 | HG02886.hp1 NA18946.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.2524+2073_2524+207 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACAT | A | 65 | a0001c0003t0001g0144 a0001c0003t0001g0148 a0001c0003t0001g0206 others(62): Show |
65 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(62): Show |
intron_variant | MODIFIER | c.2524+2071_2524+207 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACATA others(1): Show |
A | 8 | a0001c0003t0001g0158 a0001c0003t0001g0181 a0002c0002t0001g0071 others(5): Show |
8 | HG01167.hp1 HG01243.hp2 HG02040.hp1 others(5): Show |
intron_variant | MODIFIER | c.2524+2069_2524+207 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACATA others(3): Show |
A | 2 | a0002c0002t0001g0047 a0009c0022t0003g0121 |
2 | HG01943.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.2524+2067_2524+207 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACATA others(9): Show |
A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2524+2061_2524+207 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACATA others(11): Show |
A | 1 | a0001c0003t0001g0153 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.2524+2059_2524+207 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACATA others(13): Show |
A | 3 | a0001c0003t0001g0195 a0001c0003t0001g0196 a0002c0002t0001g0094 |
3 | NA18969.hp1 NA19070.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.2524+2057_2524+207 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACATA others(15): Show |
A | 1 | a0002c0002t0001g0091 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.2524+2055_2524+207 others(26): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483188 | AACACATA others(25): Show |
A | 1 | a0003c0004t0005g0006 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2524+2045_2524+207 others(36): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483188 | |||||||
| chr12:111483190 | CACAT | C | 33 | a0001c0003t0001g0163 a0001c0003t0001g0170 a0001c0003t0001g0171 others(30): Show |
33 | HG01081.hp1 HG01168.hp2 HG01361.hp2 others(30): Show |
intron_variant | MODIFIER | c.2524+2071_2524+207 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483190 | |||||||
| chr12:111483192 | CAT | C | 33 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(30): Show |
33 | HG00597.hp1 HG01169.hp2 HG02055.hp1 others(30): Show |
intron_variant | MODIFIER | c.2524+2071_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483192 | |||||||
| chr12:111483194 | T | C | 60 | a0001c0001t0002g0229 a0001c0001t0006g0257 a0001c0003t0001g0142 others(57): Show |
60 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(57): Show |
intron_variant | MODIFIER | c.2524+2071A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | |||||||
| chr12:111483194 | T | TAC | 10 | a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0248 others(7): Show |
10 | HG01993.hp2 HG03704.hp2 HG03710.hp1 others(7): Show |
intron_variant | MODIFIER | c.2524+2069_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | |||||||
| chr12:111483194 | T | TACAC | 7 | a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0261 others(4): Show |
7 | HG02056.hp1 HG02965.hp1 HG03492.hp1 others(4): Show |
intron_variant | MODIFIER | c.2524+2067_2524+207 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | |||||||
| chr12:111483194 | T | TACACAC | 8 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0236 others(5): Show |
8 | HG02735.hp1 HG03017.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.2524+2065_2524+207 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | |||||||
| chr12:111483194 | T | TACACACA others(5): Show |
1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.2524+2059_2524+207 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | |||||||
| chr12:111483194 | TAC | T | 9 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0287 others(6): Show |
9 | HG01081.hp2 HG01975.hp2 HG02735.hp2 others(6): Show |
intron_variant | MODIFIER | c.2524+2069_2524+207 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483194 | |||||||
| chr12:111483239 | A | AC | 4 | a0001c0001t0002g0266 a0001c0003t0001g0165 a0002c0002t0001g0034 others(1): Show |
4 | HG02071.hp2 HG04228.hp1 NA18991.hp2 others(1): Show |
intron_variant | MODIFIER | c.2524+2025_2524+202 others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483239 | |||||||
| chr12:111483240 | A | C | 3 | a0001c0001t0001g0028 a0001c0001t0003g0029 a0003c0004t0003g0024 |
3 | HG02280.hp1 HG02622.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2524+2025T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483240 | |||||||
| chr12:111483403 | T | C | 1 | a0001c0003t0001g0143 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2524+1862A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483403 | |||||||
| chr12:111483410 | C | CA | 13 | a0001c0001t0002g0233 a0001c0001t0002g0254 a0001c0001t0002g0256 others(10): Show |
13 | HG00544.hp1 HG01256.hp1 HG01361.hp1 others(10): Show |
intron_variant | MODIFIER | c.2524+1854dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | |||||||
| chr12:111483410 | C | CAAA | 78 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(75): Show |
78 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.2524+1852_2524+185 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | |||||||
| chr12:111483410 | C | CAAAA | 29 | a0001c0003t0001g0139 a0001c0003t0001g0186 a0001c0003t0003g0169 others(26): Show |
29 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.2524+1851_2524+185 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | |||||||
| chr12:111483410 | C | CAAAAA | 16 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(13): Show |
16 | HG01884.hp1 HG02055.hp1 HG02280.hp1 others(13): Show |
intron_variant | MODIFIER | c.2524+1850_2524+185 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483410 | |||||||
| chr12:111483452 | C | CT | 83 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0225 others(80): Show |
83 | HG00597.hp2 HG01081.hp1 HG01123.hp1 others(80): Show |
intron_variant | MODIFIER | c.2524+1812dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | |||||||
| chr12:111483452 | C | CTT | 18 | a0001c0001t0006g0257 a0001c0003t0001g0140 a0001c0003t0001g0142 others(15): Show |
18 | HG00099.hp1 HG00408.hp2 HG00642.hp2 others(15): Show |
intron_variant | MODIFIER | c.2524+1811_2524+181 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | |||||||
| chr12:111483452 | CT | C | 14 | a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0248 others(11): Show |
14 | HG01167.hp2 HG02572.hp2 HG02630.hp2 others(11): Show |
intron_variant | MODIFIER | c.2524+1812delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | |||||||
| chr12:111483452 | CTTTTTTT others(3): Show |
C | 14 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(11): Show |
14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.2524+1803_2524+181 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483452 | |||||||
| chr12:111483459 | T | G | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2524+1806A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483459 | |||||||
| chr12:111483478 | G | A | 1 | a0002c0002t0001g0085 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.2524+1787C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483478 | |||||||
| chr12:111483871 | C | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2524+1394G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483871 | |||||||
| chr12:111483884 | T | C | 2 | a0002c0002t0001g0064 a0002c0002t0001g0066 |
2 | HG01256.hp1 HG01258.hp1 |
intron_variant | MODIFIER | c.2524+1381A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111483884 | |||||||
| chr12:111484063 | C | T | 2 | a0003c0004t0005g0006 a0005c0023t0005g0122 |
2 | HG01884.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.2524+1202G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484063 | |||||||
| chr12:111484122 | T | A | 85 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.2524+1143A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484122 | |||||||
| chr12:111484285 | C | CT | 41 | a0001c0003t0001g0212 a0002c0002t0001g0085 a0003c0004t0003g0008 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+979dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484285 | |||||||
| chr12:111484428 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2524+837A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484428 | |||||||
| chr12:111484431 | T | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+834A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484431 | |||||||
| chr12:111484434 | G | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2524+831C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484434 | |||||||
| chr12:111484642 | G | A | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.2524+623C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484642 | |||||||
| chr12:111484688 | G | A | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2524+577C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484688 | |||||||
| chr12:111484695 | C | G | 1 | a0001c0003t0001g0162 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.2524+570G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484695 | |||||||
| chr12:111484921 | A | G | 1 | a0001c0003t0001g0156 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2524+344T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111484921 | |||||||
| chr12:111485021 | C | A | 1 | a0004c0020t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2524+244G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111485021 | |||||||
| chr12:111485182 | C | G | 2 | a0007c0011t0001g0213 a0007c0011t0001g0214 |
2 | NA18942.hp1 NA18991.hp2 |
intron_variant | MODIFIER | c.2524+83G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111485182 | |||||||
| chr12:111485199 | T | G | 2 | a0003c0004t0003g0009 a0003c0004t0005g0011 |
2 | HG02055.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.2524+66A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 18/24 | chr12 | 111485199 | |||||||
| chr12:111485377 | T | C | 1 | a0001c0001t0002g0221 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2458-46A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485377 | |||||||
| chr12:111485518 | A | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2458-187T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485518 | |||||||
| chr12:111485613 | A | G | 71 | a0001c0003t0001g0148 a0002c0002t0001g0026 a0002c0002t0001g0030 others(68): Show |
71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.2457+100T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485613 | |||||||
| chr12:111485651 | G | A | 4 | a0001c0003t0001g0166 a0001c0003t0001g0194 a0001c0003t0003g0167 others(1): Show |
4 | HG02040.hp2 HG03654.hp2 HG04115.hp2 others(1): Show |
intron_variant | MODIFIER | c.2457+62C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485651 | |||||||
| chr12:111485662 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2457+51G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 17/24 | chr12 | 111485662 | |||||||
| chr12:111486288 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2305-423G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486288 | |||||||
| chr12:111486372 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.2304+389A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486372 | |||||||
| chr12:111486420 | C | T | 1 | a0001c0003t0001g0154 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2304+341G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486420 | |||||||
| chr12:111486563 | T | C | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.2304+198A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486563 | |||||||
| chr12:111486618 | A | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2304+143T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486618 | |||||||
| chr12:111486711 | A | T | 1 | a0001c0003t0001g0164 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2304+50T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 16/24 | chr12 | 111486711 | |||||||
| chr12:111486868 | G | A | 1 | a0002c0002t0001g0062 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.2241-44C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111486868 | |||||||
| chr12:111486887 | T | C | 1 | a0001c0003t0001g0184 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.2241-63A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111486887 | |||||||
| chr12:111487088 | T | A | 2 | a0001c0003t0001g0157 a0003c0005t0001g0125 |
2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.2241-264A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487088 | |||||||
| chr12:111487171 | C | T | 1 | a0003c0005t0001g0138 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2241-347G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487171 | |||||||
| chr12:111487208 | A | G | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.2241-384T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487208 | |||||||
| chr12:111487226 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-402G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487226 | |||||||
| chr12:111487253 | T | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-429A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487253 | |||||||
| chr12:111487442 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-618A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487442 | |||||||
| chr12:111487453 | TTTTA | T | 83 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(80): Show |
83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.2241-633_2241-630d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487453 | |||||||
| chr12:111487533 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.2241-709A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487533 | |||||||
| chr12:111487842 | A | G | 1 | a0003c0004t0003g0014 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.2240+634T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111487842 | |||||||
| chr12:111488076 | C | T | 1 | a0001c0003t0001g0164 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.2240+400G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111488076 | |||||||
| chr12:111488428 | A | T | 1 | a0002c0002t0001g0057 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.2240+48T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111488428 | |||||||
| chr12:111488451 | T | G | 3 | a0001c0003t0001g0177 a0001c0003t0001g0180 a0001c0026t0001g0175 |
3 | HG00099.hp1 HG01361.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.2240+25A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 15/24 | chr12 | 111488451 | |||||||
| chr12:111488872 | C | T | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1936-92G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111488872 | |||||||
| chr12:111489042 | G | A | 13 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(10): Show |
13 | HG01167.hp1 HG01884.hp2 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.1936-262C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489042 | |||||||
| chr12:111489097 | T | C | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1936-317A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489097 | |||||||
| chr12:111489133 | AATGCTAA others(8): Show |
A | 1 | a0003c0005t0001g0138 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1936-368_1936-354d others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489133 | |||||||
| chr12:111489152 | G | A | 1 | a0003c0005t0001g0129 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1936-372C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489152 | |||||||
| chr12:111489157 | A | G | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1936-377T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489157 | |||||||
| chr12:111489187 | T | TG | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-408_1936-407i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489187 | |||||||
| chr12:111489419 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-639G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489419 | |||||||
| chr12:111489430 | C | T | 1 | a0003c0004t0003g0023 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1936-650G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489430 | |||||||
| chr12:111489481 | C | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1936-701G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489481 | |||||||
| chr12:111489506 | G | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-726C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489506 | |||||||
| chr12:111489516 | G | A | 2 | a0003c0005t0003g0137 a0006c0009t0003g0105 |
2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1936-736C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489516 | |||||||
| chr12:111489568 | C | T | 4 | a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0253 others(1): Show |
4 | HG02572.hp2 HG02630.hp2 HG03209.hp2 others(1): Show |
intron_variant | MODIFIER | c.1936-788G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489568 | |||||||
| chr12:111489569 | G | A | 4 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(1): Show |
4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1936-789C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489569 | |||||||
| chr12:111489611 | C | CA | 49 | a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 others(46): Show |
49 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(46): Show |
intron_variant | MODIFIER | c.1936-832dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489611 | |||||||
| chr12:111489611 | C | CAA | 7 | a0003c0004t0005g0011 a0003c0006t0003g0107 a0003c0006t0003g0108 others(4): Show |
7 | HG01168.hp2 HG01169.hp2 HG02055.hp1 others(4): Show |
intron_variant | MODIFIER | c.1936-833_1936-832d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489611 | |||||||
| chr12:111489800 | G | T | 2 | a0002c0002t0001g0052 a0002c0002t0001g0071 |
2 | HG03017.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.1936-1020C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489800 | |||||||
| chr12:111489867 | G | A | 2 | a0003c0004t0003g0016 a0003c0004t0003g0017 |
2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1936-1087C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489867 | |||||||
| chr12:111489935 | G | A | 83 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(80): Show |
83 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(80): Show |
intron_variant | MODIFIER | c.1936-1155C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111489935 | |||||||
| chr12:111490046 | T | TA | 82 | a0001c0001t0006g0257 a0001c0003t0001g0139 a0001c0003t0001g0140 others(79): Show |
82 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.1936-1267dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490046 | |||||||
| chr12:111490212 | TA | T | 13 | a0001c0001t0002g0243 a0001c0001t0004g0226 a0001c0001t0004g0245 others(10): Show |
13 | HG01168.hp1 HG01168.hp2 HG02129.hp2 others(10): Show |
intron_variant | MODIFIER | c.1936-1433delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490212 | |||||||
| chr12:111490213 | A | T | 2 | a0001c0001t0002g0273 a0001c0001t0002g0291 |
2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.1936-1433T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490213 | |||||||
| chr12:111490293 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-1513G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490293 | |||||||
| chr12:111490374 | G | C | 10 | a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0200 others(7): Show |
10 | HG00408.hp2 HG00597.hp2 HG02056.hp2 others(7): Show |
intron_variant | MODIFIER | c.1936-1594C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490374 | |||||||
| chr12:111490402 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-1622G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490402 | |||||||
| chr12:111490498 | G | C | 1 | a0002c0002t0001g0101 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1936-1718C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490498 | |||||||
| chr12:111490630 | A | C | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1936-1850T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490630 | |||||||
| chr12:111490664 | C | T | 1 | a0003c0004t0005g0018 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1936-1884G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490664 | |||||||
| chr12:111490690 | C | T | 70 | a0001c0003t0001g0148 a0002c0002t0001g0026 a0002c0002t0001g0030 others(67): Show |
70 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(67): Show |
intron_variant | MODIFIER | c.1936-1910G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490690 | |||||||
| chr12:111490844 | A | C | 1 | a0004c0020t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1936-2064T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490844 | |||||||
| chr12:111490847 | C | T | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1936-2067G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490847 | |||||||
| chr12:111490875 | C | T | 14 | a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 others(11): Show |
14 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(11): Show |
intron_variant | MODIFIER | c.1936-2095G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111490875 | |||||||
| chr12:111491129 | G | A | 70 | a0001c0003t0001g0148 a0002c0002t0001g0026 a0002c0002t0001g0030 others(67): Show |
70 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(67): Show |
intron_variant | MODIFIER | c.1936-2349C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491129 | |||||||
| chr12:111491168 | A | G | 70 | a0001c0003t0001g0148 a0002c0002t0001g0026 a0002c0002t0001g0030 others(67): Show |
70 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(67): Show |
intron_variant | MODIFIER | c.1936-2388T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491168 | |||||||
| chr12:111491210 | G | A | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1936-2430C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491210 | |||||||
| chr12:111491326 | C | A | 83 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(80): Show |
83 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(80): Show |
intron_variant | MODIFIER | c.1936-2546G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491326 | |||||||
| chr12:111491405 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-2625A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491405 | |||||||
| chr12:111491459 | G | C | 1 | a0001c0001t0002g0288 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.1936-2679C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491459 | |||||||
| chr12:111491759 | G | A | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1936-2979C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111491759 | |||||||
| chr12:111492199 | G | A | 1 | a0001c0003t0001g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.1936-3419C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492199 | |||||||
| chr12:111492287 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-3507T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492287 | |||||||
| chr12:111492480 | G | A | 5 | a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 others(2): Show |
5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.1936-3700C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492480 | |||||||
| chr12:111492542 | C | T | 1 | a0001c0001t0001g0027 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.1936-3762G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492542 | |||||||
| chr12:111492596 | T | C | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1936-3816A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492596 | |||||||
| chr12:111492636 | T | A | 1 | a0002c0002t0001g0091 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.1936-3856A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492636 | |||||||
| chr12:111492836 | G | C | 1 | a0001c0003t0001g0194 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1936-4056C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111492836 | |||||||
| chr12:111493418 | C | CA | 21 | a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0224 others(18): Show |
21 | HG01081.hp2 HG01952.hp1 HG02027.hp1 others(18): Show |
intron_variant | MODIFIER | c.1936-4639dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493418 | C | CAA | 73 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(70): Show |
73 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.1936-4640_1936-463 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493418 | C | CAAA | 13 | a0001c0003t0001g0140 a0001c0003t0001g0151 a0001c0003t0001g0156 others(10): Show |
13 | HG02027.hp2 HG02135.hp2 HG02145.hp1 others(10): Show |
intron_variant | MODIFIER | c.1936-4641_1936-463 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493418 | C | CAAAAAAA others(1): Show |
9 | a0003c0004t0003g0022 a0003c0004t0003g0024 a0003c0006t0003g0108 others(6): Show |
9 | HG02055.hp2 HG02109.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.1936-4646_1936-463 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493418 | C | CAAAAAAA others(2): Show |
10 | a0003c0004t0003g0009 a0003c0004t0003g0015 a0003c0004t0003g0016 others(7): Show |
10 | HG02257.hp1 HG02486.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.1936-4647_1936-463 others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493418 | C | CAAAAAAA others(3): Show |
11 | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 others(8): Show |
11 | HG02055.hp1 HG02717.hp1 HG02965.hp2 others(8): Show |
intron_variant | MODIFIER | c.1936-4648_1936-463 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493418 | C | CAAAAAAA others(4): Show |
2 | a0006c0009t0003g0105 a0009c0022t0003g0121 |
2 | HG01943.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.1936-4649_1936-463 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493418 | C | CAAAAAAA others(5): Show |
2 | a0003c0005t0003g0137 a0010c0015t0003g0019 |
2 | HG02630.hp1 HG02976.hp1 |
intron_variant | MODIFIER | c.1936-4650_1936-463 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493418 | |||||||
| chr12:111493630 | A | AT | 8 | a0001c0001t0002g0228 a0001c0001t0002g0259 a0001c0001t0002g0290 others(5): Show |
8 | HG02145.hp1 HG02148.hp1 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.1936-4851dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493630 | |||||||
| chr12:111493630 | AT | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-4851delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493630 | |||||||
| chr12:111493689 | C | T | 1 | a0003c0005t0001g0136 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1936-4909G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493689 | |||||||
| chr12:111493698 | G | A | 2 | a0004c0008t0001g0001 a0004c0008t0001g0002 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1936-4918C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493698 | |||||||
| chr12:111493900 | T | A | 1 | a0002c0002t0001g0052 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1936-5120A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111493900 | |||||||
| chr12:111494078 | C | T | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1936-5298G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494078 | |||||||
| chr12:111494095 | A | G | 1 | a0001c0001t0002g0290 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1936-5315T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494095 | |||||||
| chr12:111494164 | A | G | 1 | a0001c0001t0004g0246 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.1936-5384T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494164 | |||||||
| chr12:111494171 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-5391G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494171 | |||||||
| chr12:111494425 | C | CT | 6 | a0001c0001t0002g0264 a0001c0001t0002g0290 a0001c0003t0001g0195 others(3): Show |
6 | HG00642.hp1 HG02055.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1936-5646dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494425 | |||||||
| chr12:111494425 | CT | C | 6 | a0001c0001t0002g0219 a0001c0001t0002g0242 a0001c0003t0003g0169 others(3): Show |
6 | HG00642.hp2 HG01081.hp2 HG01943.hp1 others(3): Show |
intron_variant | MODIFIER | c.1936-5646delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494425 | |||||||
| chr12:111494428 | T | G | 2 | a0003c0005t0003g0137 a0006c0009t0003g0105 |
2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1936-5648A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494428 | |||||||
| chr12:111494449 | G | A | 1 | a0001c0001t0002g0292 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1936-5669C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494449 | |||||||
| chr12:111494464 | C | T | 84 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(81): Show |
84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.1936-5684G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494464 | |||||||
| chr12:111494474 | G | T | 1 | a0003c0006t0003g0117 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1936-5694C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494474 | |||||||
| chr12:111494996 | C | T | 283 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(280): Show |
283 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(280): Show |
intron_variant | MODIFIER | c.1936-6216G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111494996 | |||||||
| chr12:111495178 | G | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-6398C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495178 | |||||||
| chr12:111495308 | C | CA | 22 | a0001c0001t0002g0278 a0001c0001t0002g0288 a0001c0001t0004g0297 others(19): Show |
22 | HG01168.hp2 HG02055.hp2 HG02056.hp1 others(19): Show |
intron_variant | MODIFIER | c.1936-6529dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495308 | |||||||
| chr12:111495308 | C | CAA | 75 | a0001c0003t0001g0145 a0001c0003t0001g0148 a0001c0003t0001g0158 others(72): Show |
75 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(72): Show |
intron_variant | MODIFIER | c.1936-6530_1936-652 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495308 | |||||||
| chr12:111495308 | C | CAAA | 8 | a0001c0003t0001g0144 a0002c0002t0001g0036 a0002c0002t0001g0067 others(5): Show |
8 | HG01928.hp1 HG01952.hp1 HG02132.hp2 others(5): Show |
intron_variant | MODIFIER | c.1936-6531_1936-652 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495308 | |||||||
| chr12:111495378 | T | C | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.1936-6598A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495378 | |||||||
| chr12:111495557 | A | G | 1 | a0011c0013t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1936-6777T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495557 | |||||||
| chr12:111495736 | T | C | 14 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(11): Show |
14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.1936-6956A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495736 | |||||||
| chr12:111495741 | C | A | 6 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(3): Show |
6 | HG02132.hp1 HG02135.hp2 HG02155.hp2 others(3): Show |
intron_variant | MODIFIER | c.1936-6961G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495741 | |||||||
| chr12:111495763 | T | G | 1 | a0003c0004t0005g0018 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1936-6983A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495763 | |||||||
| chr12:111495960 | A | G | 1 | a0003c0006t0003g0108 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1936-7180T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495960 | |||||||
| chr12:111495970 | C | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-7190G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495970 | |||||||
| chr12:111495980 | C | CA | 83 | a0001c0001t0002g0272 a0001c0001t0002g0290 a0001c0001t0004g0295 others(80): Show |
83 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(80): Show |
intron_variant | MODIFIER | c.1936-7201dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495980 | |||||||
| chr12:111495980 | C | CAA | 41 | a0001c0003t0001g0178 a0001c0003t0003g0205 a0003c0004t0003g0008 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01943.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-7202_1936-720 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111495980 | |||||||
| chr12:111496260 | G | A | 1 | a0005c0021t0001g0120 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1936-7480C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496260 | |||||||
| chr12:111496451 | A | G | 2 | a0001c0010t0001g0168 a0001c0010t0001g0203 |
2 | HG02071.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.1936-7671T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496451 | |||||||
| chr12:111496649 | A | C | 1 | a0001c0003t0003g0189 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1936-7869T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496649 | |||||||
| chr12:111496862 | T | TA | 39 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(36): Show |
39 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.1936-8083dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496862 | |||||||
| chr12:111496971 | C | T | 1 | a0002c0002t0001g0085 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1936-8191G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111496971 | |||||||
| chr12:111497010 | G | A | 4 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(1): Show |
4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.1936-8230C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497010 | |||||||
| chr12:111497117 | T | C | 5 | a0001c0001t0002g0217 a0001c0003t0003g0187 a0001c0003t0003g0188 others(2): Show |
5 | HG01258.hp2 HG01496.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.1936-8337A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497117 | |||||||
| chr12:111497551 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1936-8771A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497551 | |||||||
| chr12:111497596 | T | C | 1 | a0001c0003t0001g0154 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1936-8816A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497596 | |||||||
| chr12:111497611 | A | G | 1 | a0001c0003t0001g0154 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1936-8831T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497611 | |||||||
| chr12:111497912 | A | G | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1936-9132T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497912 | |||||||
| chr12:111497929 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-9149G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111497929 | |||||||
| chr12:111498096 | G | T | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1936-9316C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111498096 | |||||||
| chr12:111499034 | T | C | 84 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(81): Show |
84 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(81): Show |
intron_variant | MODIFIER | c.1936-10254A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499034 | |||||||
| chr12:111499035 | T | A | 1 | a0001c0003t0001g0154 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1936-10255A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499035 | |||||||
| chr12:111499065 | G | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1936-10285C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499065 | |||||||
| chr12:111499177 | C | A | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.1935+10372G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499177 | |||||||
| chr12:111499189 | G | A | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1935+10360C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499189 | |||||||
| chr12:111499230 | C | A | 1 | a0002c0002t0001g0090 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.1935+10319G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499230 | |||||||
| chr12:111499266 | C | T | 14 | a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 others(11): Show |
14 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(11): Show |
intron_variant | MODIFIER | c.1935+10283G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499266 | |||||||
| chr12:111499414 | G | A | 1 | a0002c0002t0001g0089 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1935+10135C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499414 | |||||||
| chr12:111499530 | C | A | 1 | a0003c0004t0003g0014 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.1935+10019G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499530 | |||||||
| chr12:111499689 | C | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+9860G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499689 | |||||||
| chr12:111499962 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+9587G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111499962 | |||||||
| chr12:111500073 | A | T | 2 | a0001c0003t0001g0144 a0003c0005t0001g0126 |
2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1935+9476T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500073 | |||||||
| chr12:111500074 | A | T | 2 | a0001c0003t0001g0144 a0003c0005t0001g0126 |
2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1935+9475T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500074 | |||||||
| chr12:111500237 | A | G | 1 | a0002c0002t0001g0061 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1935+9312T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500237 | |||||||
| chr12:111500240 | G | A | 1 | a0001c0003t0003g0189 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.1935+9309C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500240 | |||||||
| chr12:111500544 | C | T | 1 | a0001c0003t0001g0184 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.1935+9005G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500544 | |||||||
| chr12:111500647 | G | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1935+8902C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500647 | |||||||
| chr12:111500667 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+8882C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500667 | |||||||
| chr12:111500762 | A | T | 1 | a0003c0005t0001g0136 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1935+8787T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111500762 | |||||||
| chr12:111501103 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+8446A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501103 | |||||||
| chr12:111501321 | A | G | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1935+8228T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501321 | |||||||
| chr12:111501357 | T | C | 1 | a0003c0004t0005g0006 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1935+8192A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501357 | |||||||
| chr12:111501513 | C | T | 1 | a0001c0003t0001g0194 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1935+8036G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501513 | |||||||
| chr12:111501544 | C | G | 1 | a0001c0003t0001g0209 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1935+8005G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501544 | |||||||
| chr12:111501672 | G | T | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.1935+7877C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501672 | |||||||
| chr12:111501743 | G | A | 59 | a0001c0003t0001g0148 a0002c0002t0001g0030 a0002c0002t0001g0031 others(56): Show |
59 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(56): Show |
intron_variant | MODIFIER | c.1935+7806C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501743 | |||||||
| chr12:111501745 | T | A | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1935+7804A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501745 | |||||||
| chr12:111501784 | C | T | 1 | a0001c0003t0001g0172 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1935+7765G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501784 | |||||||
| chr12:111501870 | G | A | 1 | a0003c0005t0003g0127 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.1935+7679C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501870 | |||||||
| chr12:111501894 | C | CT | 41 | a0001c0001t0002g0280 a0003c0004t0003g0008 a0003c0004t0003g0009 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+7654dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501894 | |||||||
| chr12:111501980 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+7569G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111501980 | |||||||
| chr12:111502241 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+7308T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502241 | |||||||
| chr12:111502451 | C | T | 2 | a0001c0003t0001g0186 a0003c0006t0003g0107 |
2 | NA18906.hp2 NA18982.hp1 |
intron_variant | MODIFIER | c.1935+7098G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502451 | |||||||
| chr12:111502554 | C | T | 14 | a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 others(11): Show |
14 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(11): Show |
intron_variant | MODIFIER | c.1935+6995G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502554 | |||||||
| chr12:111502749 | G | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1935+6800C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502749 | |||||||
| chr12:111502781 | T | C | 1 | a0002c0002t0001g0062 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.1935+6768A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502781 | |||||||
| chr12:111502884 | A | T | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.1935+6665T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502884 | |||||||
| chr12:111502955 | G | A | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.1935+6594C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502955 | |||||||
| chr12:111502970 | T | C | 5 | a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 others(2): Show |
5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.1935+6579A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111502970 | |||||||
| chr12:111503209 | T | C | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1935+6340A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503209 | |||||||
| chr12:111503316 | T | C | 130 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(127): Show |
130 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(127): Show |
intron_variant | MODIFIER | c.1935+6233A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503316 | |||||||
| chr12:111503717 | G | A | 1 | a0001c0001t0004g0294 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1935+5832C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503717 | |||||||
| chr12:111503740 | C | T | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1935+5809G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503740 | |||||||
| chr12:111503847 | CCCAAAGT others(20): Show |
C | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.1935+5675_1935+570 others(31): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111503847 | |||||||
| chr12:111504174 | A | C | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1935+5375T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504174 | |||||||
| chr12:111504332 | G | A | 1 | a0010c0015t0003g0019 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1935+5217C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504332 | |||||||
| chr12:111504510 | G | A | 4 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(1): Show |
4 | HG02145.hp2 HG02451.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.1935+5039C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504510 | |||||||
| chr12:111504515 | C | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1935+5034G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504515 | |||||||
| chr12:111504575 | G | A | 3 | a0002c0002t0001g0061 a0002c0002t0001g0073 a0002c0002t0001g0074 |
3 | HG01123.hp1 HG02273.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.1935+4974C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504575 | |||||||
| chr12:111504660 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+4889G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504660 | |||||||
| chr12:111504689 | T | C | 43 | a0001c0003t0001g0148 a0002c0002t0001g0030 a0002c0002t0001g0031 others(40): Show |
43 | HG00544.hp2 HG01123.hp1 HG02074.hp1 others(40): Show |
intron_variant | MODIFIER | c.1935+4860A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504689 | |||||||
| chr12:111504803 | G | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1935+4746C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111504803 | |||||||
| chr12:111505200 | T | C | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1935+4349A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505200 | |||||||
| chr12:111505317 | A | C | 1 | a0001c0026t0001g0175 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1935+4232T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505317 | |||||||
| chr12:111505640 | G | C | 6 | a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0174 others(3): Show |
6 | NA18946.hp2 NA18950.hp2 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.1935+3909C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505640 | |||||||
| chr12:111505732 | C | T | 84 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0148 others(81): Show |
84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.1935+3817G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505732 | |||||||
| chr12:111505770 | G | A | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1935+3779C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111505770 | |||||||
| chr12:111506176 | C | T | 2 | a0003c0006t0003g0112 a0003c0006t0003g0113 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.1935+3373G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506176 | |||||||
| chr12:111506300 | G | A | 2 | a0003c0005t0003g0137 a0006c0009t0003g0105 |
2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1935+3249C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506300 | |||||||
| chr12:111506312 | T | C | 1 | a0002c0002t0001g0026 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1935+3237A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506312 | |||||||
| chr12:111506336 | A | C | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1935+3213T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506336 | |||||||
| chr12:111506527 | T | C | 3 | a0002c0002t0001g0052 a0002c0002t0001g0071 a0002c0002t0001g0097 |
3 | HG03017.hp2 HG03239.hp1 HG04204.hp2 |
intron_variant | MODIFIER | c.1935+3022A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506527 | |||||||
| chr12:111506631 | T | TC | 11 | a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0264 others(8): Show |
11 | HG00408.hp1 HG00597.hp1 HG00642.hp1 others(8): Show |
intron_variant | MODIFIER | c.1935+2917dupG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506631 | |||||||
| chr12:111506635 | C | T | 25 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(22): Show |
25 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(22): Show |
intron_variant | MODIFIER | c.1935+2914G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506635 | |||||||
| chr12:111506639 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1935+2910A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506639 | |||||||
| chr12:111506740 | T | A | 4 | a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0081 others(1): Show |
4 | HG02074.hp1 NA18950.hp1 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.1935+2809A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506740 | |||||||
| chr12:111506813 | G | A | 1 | a0003c0004t0003g0021 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1935+2736C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506813 | |||||||
| chr12:111506855 | G | A | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1935+2694C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506855 | |||||||
| chr12:111506926 | G | A | 1 | a0010c0015t0003g0019 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1935+2623C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111506926 | |||||||
| chr12:111507050 | A | G | 40 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(37): Show |
40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.1935+2499T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507050 | |||||||
| chr12:111507084 | A | AC | 4 | a0003c0004t0003g0021 a0003c0005t0001g0129 a0003c0006t0003g0107 others(1): Show |
4 | HG01243.hp1 HG01243.hp2 HG02055.hp2 others(1): Show |
intron_variant | MODIFIER | c.1935+2464dupG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507084 | |||||||
| chr12:111507136 | T | C | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1935+2413A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507136 | |||||||
| chr12:111507193 | G | A | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1935+2356C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507193 | |||||||
| chr12:111507244 | G | A | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1935+2305C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507244 | |||||||
| chr12:111507281 | G | A | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1935+2268C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507281 | |||||||
| chr12:111507334 | G | C | 9 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(6): Show |
9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.1935+2215C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507334 | |||||||
| chr12:111507349 | G | A | 2 | a0001c0003t0001g0144 a0003c0005t0001g0126 |
2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.1935+2200C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507349 | |||||||
| chr12:111507466 | G | A | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1935+2083C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507466 | |||||||
| chr12:111507495 | G | C | 1 | a0001c0001t0002g0217 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.1935+2054C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507495 | |||||||
| chr12:111507526 | C | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+2023G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507526 | |||||||
| chr12:111507527 | C | T | 80 | a0001c0003t0001g0148 a0002c0002t0001g0025 a0002c0002t0001g0026 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.1935+2022G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507527 | |||||||
| chr12:111507558 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+1991T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507558 | |||||||
| chr12:111507648 | G | A | 3 | a0003c0005t0001g0129 a0003c0005t0001g0130 a0003c0005t0001g0131 |
3 | HG01243.hp1 HG02145.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.1935+1901C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507648 | |||||||
| chr12:111507790 | T | G | 15 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(12): Show |
15 | HG02132.hp1 HG02135.hp2 HG02155.hp2 others(12): Show |
intron_variant | MODIFIER | c.1935+1759A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507790 | |||||||
| chr12:111507980 | T | C | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.1935+1569A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111507980 | |||||||
| chr12:111508156 | T | TA | 39 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(36): Show |
39 | HG01168.hp2 HG01243.hp2 HG01884.hp1 others(36): Show |
intron_variant | MODIFIER | c.1935+1392dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508156 | |||||||
| chr12:111508285 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+1264T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508285 | |||||||
| chr12:111508288 | CA | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+1260delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508288 | |||||||
| chr12:111508288 | CAG | C | 4 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0282 others(1): Show |
4 | HG02622.hp2 HG02897.hp1 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1935+1259_1935+126 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508288 | |||||||
| chr12:111508441 | C | CT | 107 | a0001c0001t0002g0220 a0001c0001t0002g0271 a0001c0001t0002g0276 others(104): Show |
107 | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(104): Show |
intron_variant | MODIFIER | c.1935+1107dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508441 | |||||||
| chr12:111508441 | C | CTT | 56 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(53): Show |
56 | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(53): Show |
intron_variant | MODIFIER | c.1935+1106_1935+110 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508441 | |||||||
| chr12:111508441 | CT | C | 38 | a0001c0001t0002g0282 a0003c0004t0003g0008 a0003c0004t0003g0009 others(35): Show |
38 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.1935+1107delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508441 | |||||||
| chr12:111508631 | A | G | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(207): Show |
210 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(207): Show |
intron_variant | MODIFIER | c.1935+918T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508631 | |||||||
| chr12:111508699 | G | A | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1935+850C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111508699 | |||||||
| chr12:111509033 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+516G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509033 | |||||||
| chr12:111509250 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1935+299G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509250 | |||||||
| chr12:111509422 | T | C | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1935+127A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509422 | |||||||
| chr12:111509471 | C | T | 1 | a0013c0025t0001g0124 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1935+78G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 14/24 | chr12 | 111509471 | |||||||
| chr12:111509742 | A | G | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.1865-123T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/24 | chr12 | 111509742 | |||||||
| chr12:111509778 | T | C | 1 | a0001c0001t0004g0227 | 1 | HG03492.hp1 | intron_variant | MODIFIER | c.1864+113A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/24 | chr12 | 111509778 | |||||||
| chr12:111509824 | G | A | 1 | a0002c0002t0001g0089 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1864+67C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 13/24 | chr12 | 111509824 | |||||||
| chr12:111510227 | A | T | 1 | a0002c0002t0001g0094 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.1756+158T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 12/24 | chr12 | 111510227 | |||||||
| chr12:111510707 | C | T | 1 | a0003c0004t0003g0008 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1559-125G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510707 | |||||||
| chr12:111510802 | T | C | 1 | a0001c0003t0001g0192 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1559-220A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510802 | |||||||
| chr12:111510919 | G | T | 5 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(2): Show |
5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1559-337C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510919 | |||||||
| chr12:111510933 | T | C | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1559-351A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111510933 | |||||||
| chr12:111511109 | A | C | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1559-527T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511109 | |||||||
| chr12:111511223 | G | A | 1 | a0003c0005t0001g0138 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1559-641C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511223 | |||||||
| chr12:111511245 | G | GT | 42 | a0001c0001t0002g0234 a0003c0004t0003g0008 a0003c0004t0003g0009 others(39): Show |
42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.1559-664dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511245 | |||||||
| chr12:111511313 | T | A | 3 | a0001c0003t0001g0206 a0001c0003t0001g0209 a0001c0003t0001g0211 |
3 | HG02109.hp1 HG02717.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.1559-731A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511313 | |||||||
| chr12:111511426 | T | C | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1559-844A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511426 | |||||||
| chr12:111511460 | A | AT | 54 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(51): Show |
54 | HG01167.hp1 HG01168.hp2 HG01169.hp2 others(51): Show |
intron_variant | MODIFIER | c.1559-879dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511460 | |||||||
| chr12:111511590 | T | C | 234 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(231): Show |
234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.1559-1008A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511590 | |||||||
| chr12:111511630 | T | C | 1 | a0003c0005t0001g0133 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.1559-1048A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511630 | |||||||
| chr12:111511654 | C | T | 1 | a0010c0015t0003g0019 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1559-1072G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511654 | |||||||
| chr12:111511697 | C | G | 1 | a0002c0002t0001g0061 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1559-1115G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511697 | |||||||
| chr12:111511784 | A | T | 1 | a0001c0026t0001g0175 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.1559-1202T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111511784 | |||||||
| chr12:111512273 | C | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1558+1084G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512273 | |||||||
| chr12:111512299 | T | TG | 4 | a0003c0006t0003g0109 a0003c0006t0003g0110 a0003c0006t0003g0116 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1558+1057dupC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512299 | |||||||
| chr12:111512313 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1558+1044C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512313 | |||||||
| chr12:111512354 | T | C | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1558+1003A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512354 | |||||||
| chr12:111512368 | G | A | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.1558+989C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512368 | |||||||
| chr12:111512427 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1558+930A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512427 | |||||||
| chr12:111512451 | C | CT | 46 | a0001c0001t0001g0027 a0001c0001t0002g0228 a0001c0001t0002g0261 others(43): Show |
46 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.1558+905dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512451 | |||||||
| chr12:111512451 | CT | C | 21 | a0001c0001t0002g0284 a0001c0001t0004g0296 a0001c0003t0001g0141 others(18): Show |
21 | HG00597.hp1 HG00597.hp2 HG01167.hp2 others(18): Show |
intron_variant | MODIFIER | c.1558+905delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512451 | |||||||
| chr12:111512451 | CTT | C | 59 | a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0032 others(56): Show |
59 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(56): Show |
intron_variant | MODIFIER | c.1558+904_1558+905d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512451 | |||||||
| chr12:111512647 | G | A | 1 | a0002c0002t0001g0061 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.1558+710C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512647 | |||||||
| chr12:111512671 | T | C | 6 | a0001c0001t0004g0246 a0001c0001t0004g0293 a0001c0001t0004g0294 others(3): Show |
6 | NA18952.hp2 NA18973.hp1 NA18992.hp2 others(3): Show |
intron_variant | MODIFIER | c.1558+686A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512671 | |||||||
| chr12:111512698 | C | T | 1 | a0001c0001t0002g0259 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.1558+659G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111512698 | |||||||
| chr12:111513247 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1558+110A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 11/24 | chr12 | 111513247 | |||||||
| chr12:111513571 | T | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1376-32A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111513571 | |||||||
| chr12:111513693 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.1376-154T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111513693 | |||||||
| chr12:111513909 | C | A | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1376-370G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111513909 | |||||||
| chr12:111514033 | G | A | 1 | a0001c0003t0001g0164 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.1376-494C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514033 | |||||||
| chr12:111514046 | C | T | 206 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(203): Show |
206 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(203): Show |
intron_variant | MODIFIER | c.1376-507G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514046 | |||||||
| chr12:111514296 | T | C | 1 | a0001c0001t0002g0269 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1376-757A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514296 | |||||||
| chr12:111514363 | C | T | 206 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(203): Show |
206 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(203): Show |
intron_variant | MODIFIER | c.1376-824G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514363 | |||||||
| chr12:111514411 | G | A | 2 | a0001c0001t0002g0229 a0001c0001t0006g0257 |
2 | HG03654.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1376-872C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514411 | |||||||
| chr12:111514436 | A | C | 1 | a0003c0004t0003g0023 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1376-897T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514436 | |||||||
| chr12:111514514 | T | C | 1 | a0003c0005t0001g0136 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.1376-975A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514514 | |||||||
| chr12:111514577 | T | G | 4 | a0001c0001t0002g0217 a0001c0003t0003g0187 a0001c0003t0003g0188 others(1): Show |
4 | HG01496.hp1 HG01952.hp2 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.1376-1038A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514577 | |||||||
| chr12:111514733 | C | G | 1 | a0001c0001t0002g0229 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1376-1194G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514733 | |||||||
| chr12:111514783 | T | G | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1376-1244A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514783 | |||||||
| chr12:111514905 | G | C | 4 | a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0275 others(1): Show |
4 | NA18959.hp2 NA18986.hp2 NA18994.hp1 others(1): Show |
intron_variant | MODIFIER | c.1375+1249C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514905 | |||||||
| chr12:111514976 | T | A | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1375+1178A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111514976 | |||||||
| chr12:111515196 | T | C | 1 | a0002c0002t0001g0031 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.1375+958A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515196 | |||||||
| chr12:111515236 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1375+918G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515236 | |||||||
| chr12:111515446 | C | T | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1375+708G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515446 | |||||||
| chr12:111515900 | G | A | 28 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(25): Show |
28 | HG01993.hp2 HG02135.hp1 HG02735.hp1 others(25): Show |
intron_variant | MODIFIER | c.1375+254C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111515900 | |||||||
| chr12:111516124 | C | A | 1 | a0002c0002t0001g0098 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1375+30G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111516124 | |||||||
| chr12:111516125 | A | C | 1 | a0002c0002t0001g0098 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.1375+29T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 10/24 | chr12 | 111516125 | |||||||
| chr12:111517412 | C | T | 2 | a0002c0002t0001g0069 a0002c0002t0001g0087 |
2 | HG02080.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.1165+837G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517412 | |||||||
| chr12:111517484 | T | C | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1165+765A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517484 | |||||||
| chr12:111517714 | T | C | 1 | a0001c0003t0001g0139 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.1165+535A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517714 | |||||||
| chr12:111517769 | G | A | 1 | a0003c0004t0003g0023 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1165+480C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 9/24 | chr12 | 111517769 | |||||||
| chr12:111518610 | G | A | 1 | a0001c0003t0001g0195 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.987-183C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518610 | |||||||
| chr12:111518969 | C | T | 1 | a0001c0003t0001g0140 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.987-542G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518969 | |||||||
| chr12:111518972 | T | G | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.987-545A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518972 | |||||||
| chr12:111518984 | G | T | 1 | a0002c0002t0001g0026 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.987-557C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111518984 | |||||||
| chr12:111519227 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.986+652G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111519227 | |||||||
| chr12:111519674 | A | G | 1 | a0001c0010t0001g0168 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.986+205T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 8/24 | chr12 | 111519674 | |||||||
| chr12:111520187 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.789-111C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 7/24 | chr12 | 111520187 | |||||||
| chr12:111520523 | C | T | 1 | a0001c0003t0001g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.788+359G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 7/24 | chr12 | 111520523 | |||||||
| chr12:111520729 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.788+153A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 7/24 | chr12 | 111520729 | |||||||
| chr12:111521250 | C | G | 1 | a0002c0002t0001g0061 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.697-277G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521250 | |||||||
| chr12:111521481 | G | A | 1 | a0001c0001t0002g0252 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.697-508C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521481 | |||||||
| chr12:111521493 | G | A | 11 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(8): Show |
11 | HG01167.hp1 HG02735.hp1 HG02818.hp2 others(8): Show |
intron_variant | MODIFIER | c.697-520C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521493 | |||||||
| chr12:111521773 | G | A | 2 | a0001c0001t0001g0028 a0001c0001t0003g0029 |
2 | HG02622.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.697-800C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111521773 | |||||||
| chr12:111522114 | TA | T | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.697-1142delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522114 | |||||||
| chr12:111522228 | TA | T | 181 | a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0223 others(178): Show |
181 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(178): Show |
intron_variant | MODIFIER | c.697-1256delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522228 | |||||||
| chr12:111522228 | TAAA | T | 33 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(30): Show |
33 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(30): Show |
intron_variant | MODIFIER | c.697-1258_697-1256d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522228 | |||||||
| chr12:111522228 | TAAAA | T | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.697-1259_697-1256d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522228 | |||||||
| chr12:111522300 | G | A | 5 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(2): Show |
5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.697-1327C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522300 | |||||||
| chr12:111522377 | G | A | 3 | a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 |
3 | NA19056.hp1 NA19079.hp2 NA19080.hp1 |
intron_variant | MODIFIER | c.697-1404C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522377 | |||||||
| chr12:111522486 | T | C | 2 | a0003c0005t0003g0137 a0006c0009t0003g0105 |
2 | HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.697-1513A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522486 | |||||||
| chr12:111522511 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.697-1538T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522511 | |||||||
| chr12:111522512 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.697-1539C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522512 | |||||||
| chr12:111522798 | C | T | 1 | a0002c0002t0001g0040 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.697-1825G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522798 | |||||||
| chr12:111522828 | C | T | 2 | a0003c0004t0003g0024 a0003c0012t0003g0003 |
2 | HG02280.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.697-1855G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522828 | |||||||
| chr12:111522831 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.697-1858A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522831 | |||||||
| chr12:111522871 | G | A | 1 | a0001c0003t0001g0209 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.697-1898C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522871 | |||||||
| chr12:111522909 | G | A | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.697-1936C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522909 | |||||||
| chr12:111522977 | TA | T | 7 | a0001c0001t0002g0224 a0001c0001t0004g0226 a0001c0003t0001g0164 others(4): Show |
7 | HG00408.hp2 HG01975.hp1 HG03704.hp2 others(4): Show |
intron_variant | MODIFIER | c.697-2005delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522977 | |||||||
| chr12:111522993 | T | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.697-2020A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111522993 | |||||||
| chr12:111523004 | G | C | 9 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(6): Show |
9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.697-2031C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523004 | |||||||
| chr12:111523237 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.696+1955C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523237 | |||||||
| chr12:111523319 | A | G | 1 | a0003c0004t0003g0015 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.696+1873T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523319 | |||||||
| chr12:111523448 | G | A | 1 | a0002c0002t0001g0035 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.696+1744C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523448 | |||||||
| chr12:111523518 | G | A | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.696+1674C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523518 | |||||||
| chr12:111523655 | G | C | 25 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0022 others(22): Show |
25 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.696+1537C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523655 | |||||||
| chr12:111523681 | G | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.696+1511C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523681 | |||||||
| chr12:111523694 | C | G | 1 | a0010c0015t0003g0019 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.696+1498G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523694 | |||||||
| chr12:111523763 | GA | G | 26 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0022 others(23): Show |
26 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.696+1428delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523763 | |||||||
| chr12:111523793 | T | G | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.696+1399A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523793 | |||||||
| chr12:111523982 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.696+1210T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111523982 | |||||||
| chr12:111524224 | A | G | 1 | a0002c0002t0001g0076 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.696+968T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524224 | |||||||
| chr12:111524476 | C | G | 1 | a0002c0002t0001g0040 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.696+716G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524476 | |||||||
| chr12:111524538 | C | G | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.696+654G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524538 | |||||||
| chr12:111524683 | G | C | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.696+509C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524683 | |||||||
| chr12:111524777 | C | T | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.696+415G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524777 | |||||||
| chr12:111524882 | C | T | 1 | a0001c0001t0002g0256 | 1 | HG01361.hp1 | intron_variant | MODIFIER | c.696+310G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524882 | |||||||
| chr12:111524888 | G | A | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.696+304C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111524888 | |||||||
| chr12:111525120 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.696+72A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 6/24 | chr12 | 111525120 | |||||||
| chr12:111525379 | T | A | 3 | a0002c0002t0001g0062 a0002c0002t0001g0079 a0002c0002t0001g0093 |
3 | NA18959.hp1 NA18974.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.572-63A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525379 | |||||||
| chr12:111525515 | A | G | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.572-199T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525515 | |||||||
| chr12:111525618 | C | T | 1 | a0010c0015t0003g0019 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.572-302G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525618 | |||||||
| chr12:111525686 | A | AT | 6 | a0001c0001t0002g0256 a0001c0001t0002g0261 a0001c0001t0002g0276 others(3): Show |
6 | HG01361.hp1 NA18943.hp1 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.572-371dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525686 | |||||||
| chr12:111525686 | AT | A | 195 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(192): Show |
195 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(192): Show |
intron_variant | MODIFIER | c.572-371delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525686 | |||||||
| chr12:111525746 | G | A | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.572-430C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525746 | |||||||
| chr12:111525766 | C | T | 79 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(76): Show |
79 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(76): Show |
intron_variant | MODIFIER | c.572-450G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525766 | |||||||
| chr12:111525778 | G | A | 2 | a0001c0001t0004g0239 a0001c0003t0001g0164 |
2 | HG02735.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.572-462C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111525778 | |||||||
| chr12:111526064 | A | G | 6 | a0002c0002t0001g0048 a0002c0002t0001g0062 a0002c0002t0001g0079 others(3): Show |
6 | NA18959.hp1 NA18974.hp2 NA18981.hp1 others(3): Show |
intron_variant | MODIFIER | c.572-748T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526064 | |||||||
| chr12:111526132 | T | C | 209 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(206): Show |
209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-816A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526132 | |||||||
| chr12:111526403 | CT | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-1088delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526403 | |||||||
| chr12:111526409 | TTTTTTTT others(1): Show |
T | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-1101_572-1094d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526409 | |||||||
| chr12:111526800 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-1484T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526800 | |||||||
| chr12:111526828 | C | A | 4 | a0003c0006t0003g0109 a0003c0006t0003g0110 a0003c0006t0003g0116 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.572-1512G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526828 | |||||||
| chr12:111526912 | T | G | 1 | a0002c0002t0001g0063 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.572-1596A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111526912 | |||||||
| chr12:111527174 | C | T | 2 | a0013c0025t0001g0124 a0014c0024t0001g0123 |
2 | NA19056.hp2 NA19074.hp2 |
intron_variant | MODIFIER | c.572-1858G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527174 | |||||||
| chr12:111527546 | A | T | 1 | a0003c0004t0003g0014 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.572-2230T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527546 | |||||||
| chr12:111527721 | A | G | 1 | a0001c0003t0001g0194 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.572-2405T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527721 | |||||||
| chr12:111527796 | T | G | 1 | a0001c0001t0002g0238 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.572-2480A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527796 | |||||||
| chr12:111527854 | C | A | 209 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(206): Show |
209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-2538G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111527854 | |||||||
| chr12:111528213 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-2897C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528213 | |||||||
| chr12:111528548 | T | A | 1 | a0002c0002t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.572-3232A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528548 | |||||||
| chr12:111528804 | G | A | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.572-3488C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528804 | |||||||
| chr12:111528998 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-3682C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111528998 | |||||||
| chr12:111529038 | C | T | 1 | a0002c0017t0001g0103 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.572-3722G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529038 | |||||||
| chr12:111529099 | C | A | 3 | a0001c0007t0007g0160 a0001c0007t0007g0161 a0001c0007t0007g0199 |
3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.572-3783G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529099 | |||||||
| chr12:111529104 | G | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.572-3788C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529104 | |||||||
| chr12:111529168 | T | G | 1 | a0002c0002t0001g0071 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.572-3852A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529168 | |||||||
| chr12:111529198 | A | G | 71 | a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(68): Show |
71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.572-3882T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529198 | |||||||
| chr12:111529231 | G | T | 1 | a0001c0003t0001g0162 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.572-3915C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529231 | |||||||
| chr12:111529263 | A | G | 1 | a0003c0004t0005g0006 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.572-3947T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529263 | |||||||
| chr12:111529351 | A | T | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4035T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529351 | |||||||
| chr12:111529353 | TAG | T | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4039_572-4038d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529353 | |||||||
| chr12:111529356 | A | C | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4040T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529356 | |||||||
| chr12:111529357 | A | T | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-4041T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529357 | |||||||
| chr12:111529546 | C | G | 5 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(2): Show |
5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.572-4230G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529546 | |||||||
| chr12:111529968 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.572-4652G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111529968 | |||||||
| chr12:111530381 | C | A | 1 | a0002c0002t0001g0038 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.572-5065G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530381 | |||||||
| chr12:111530425 | C | G | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.572-5109G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530425 | |||||||
| chr12:111530491 | T | C | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.572-5175A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530491 | |||||||
| chr12:111530512 | T | C | 1 | a0003c0006t0003g0107 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.572-5196A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530512 | |||||||
| chr12:111530630 | C | T | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.572-5314G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530630 | |||||||
| chr12:111530674 | C | T | 1 | a0003c0005t0001g0133 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.572-5358G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530674 | |||||||
| chr12:111530727 | T | C | 4 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(1): Show |
4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.572-5411A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530727 | |||||||
| chr12:111530809 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-5493T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530809 | |||||||
| chr12:111530951 | C | G | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.572-5635G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111530951 | |||||||
| chr12:111531048 | G | A | 25 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0022 others(22): Show |
25 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(22): Show |
intron_variant | MODIFIER | c.572-5732C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531048 | |||||||
| chr12:111531086 | C | G | 8 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(5): Show |
8 | HG01884.hp1 HG02965.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.572-5770G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531086 | |||||||
| chr12:111531089 | G | A | 1 | a0001c0003t0001g0179 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.572-5773C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531089 | |||||||
| chr12:111531113 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-5797A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531113 | |||||||
| chr12:111531128 | C | G | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.572-5812G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531128 | |||||||
| chr12:111531230 | T | C | 2 | a0001c0003t0001g0177 a0003c0004t0005g0007 |
2 | HG02976.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.572-5914A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531230 | |||||||
| chr12:111531386 | T | C | 4 | a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 others(1): Show |
4 | NA18948.hp1 NA19056.hp1 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.572-6070A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531386 | |||||||
| chr12:111531416 | G | A | 1 | a0001c0003t0001g0162 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.572-6100C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531416 | |||||||
| chr12:111531424 | G | A | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.572-6108C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531424 | |||||||
| chr12:111531424 | GTCTCAAA others(18): Show |
G | 1 | a0002c0002t0001g0074 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.572-6133_572-6109d others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531424 | |||||||
| chr12:111531577 | C | T | 1 | a0001c0001t0004g0294 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.572-6261G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531577 | |||||||
| chr12:111531584 | ATAC | A | 209 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(206): Show |
209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-6271_572-6269d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531584 | |||||||
| chr12:111531644 | C | T | 129 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(126): Show |
129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.572-6328G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531644 | |||||||
| chr12:111531885 | C | A | 15 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(12): Show |
15 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(12): Show |
intron_variant | MODIFIER | c.572-6569G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111531885 | |||||||
| chr12:111532044 | G | C | 1 | a0001c0003t0001g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.572-6728C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532044 | |||||||
| chr12:111532131 | G | A | 1 | a0001c0001t0002g0288 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.572-6815C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532131 | |||||||
| chr12:111532318 | G | A | 1 | a0002c0002t0001g0089 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.572-7002C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532318 | |||||||
| chr12:111532846 | G | A | 2 | a0001c0001t0002g0280 a0001c0001t0002g0298 |
2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.572-7530C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532846 | |||||||
| chr12:111532853 | G | GA | 32 | a0001c0001t0001g0028 a0001c0003t0001g0158 a0002c0002t0001g0058 others(29): Show |
32 | HG01167.hp1 HG01168.hp2 HG01169.hp2 others(29): Show |
intron_variant | MODIFIER | c.572-7538dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532853 | |||||||
| chr12:111532853 | G | GAA | 85 | a0001c0001t0001g0027 a0001c0001t0003g0029 a0001c0003t0001g0139 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.572-7539_572-7538d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532853 | |||||||
| chr12:111532853 | GA | G | 14 | a0001c0001t0002g0238 a0001c0001t0004g0216 a0001c0001t0004g0226 others(11): Show |
14 | HG02135.hp1 HG02735.hp2 HG03017.hp1 others(11): Show |
intron_variant | MODIFIER | c.572-7538delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532853 | |||||||
| chr12:111532980 | G | C | 1 | a0002c0002t0001g0052 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.572-7664C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111532980 | |||||||
| chr12:111533271 | C | T | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.572-7955G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533271 | |||||||
| chr12:111533375 | A | G | 3 | a0001c0003t0001g0195 a0001c0003t0001g0196 a0001c0003t0001g0197 |
3 | HG02027.hp2 NA18969.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.572-8059T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533375 | |||||||
| chr12:111533429 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-8113T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533429 | |||||||
| chr12:111533512 | A | AT | 33 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(30): Show |
33 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.572-8197dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533512 | |||||||
| chr12:111533533 | C | CAG | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-8219_572-8218d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533533 | |||||||
| chr12:111533572 | C | A | 5 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(2): Show |
5 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.572-8256G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533572 | |||||||
| chr12:111533580 | C | T | 2 | a0001c0003t0001g0157 a0003c0005t0001g0125 |
2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.572-8264G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533580 | |||||||
| chr12:111533881 | T | C | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.572-8565A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111533881 | |||||||
| chr12:111534217 | C | T | 1 | a0001c0003t0001g0183 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.572-8901G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534217 | |||||||
| chr12:111534225 | T | A | 1 | a0002c0002t0001g0085 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.572-8909A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534225 | |||||||
| chr12:111534262 | AT | A | 16 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(13): Show |
16 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.572-8947delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534262 | |||||||
| chr12:111534281 | G | A | 1 | a0001c0001t0004g0296 | 1 | NA19065.hp2 | intron_variant | MODIFIER | c.572-8965C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534281 | |||||||
| chr12:111534338 | T | C | 1 | a0001c0001t0002g0269 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.572-9022A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534338 | |||||||
| chr12:111534475 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-9159A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534475 | |||||||
| chr12:111534667 | G | A | 1 | a0004c0020t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.572-9351C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534667 | |||||||
| chr12:111534676 | G | A | 1 | a0001c0001t0006g0274 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.572-9360C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534676 | |||||||
| chr12:111534752 | C | T | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.572-9436G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534752 | |||||||
| chr12:111534785 | G | A | 1 | a0001c0003t0001g0157 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.572-9469C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111534785 | |||||||
| chr12:111535115 | G | GACCC | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.572-9803_572-9800d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535115 | |||||||
| chr12:111535120 | T | C | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.572-9804A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535120 | |||||||
| chr12:111535306 | C | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.572-9990G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535306 | |||||||
| chr12:111535336 | A | G | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.572-10020T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535336 | |||||||
| chr12:111535337 | A | C | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.572-10021T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535337 | |||||||
| chr12:111535479 | G | A | 1 | a0003c0004t0003g0010 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.572-10163C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535479 | |||||||
| chr12:111535554 | A | G | 283 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(280): Show |
283 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(280): Show |
intron_variant | MODIFIER | c.572-10238T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535554 | |||||||
| chr12:111535709 | T | C | 2 | a0004c0008t0001g0001 a0004c0008t0001g0002 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.572-10393A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535709 | |||||||
| chr12:111535771 | T | A | 1 | a0010c0015t0003g0019 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.572-10455A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535771 | |||||||
| chr12:111535771 | T | C | 128 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(125): Show |
128 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(125): Show |
intron_variant | MODIFIER | c.572-10455A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535771 | |||||||
| chr12:111535852 | T | G | 2 | a0003c0004t0003g0016 a0003c0004t0003g0017 |
2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.572-10536A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535852 | |||||||
| chr12:111535869 | G | A | 2 | a0001c0001t0002g0236 a0001c0001t0002g0237 |
2 | NA19004.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.572-10553C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535869 | |||||||
| chr12:111535904 | G | T | 2 | a0002c0002t0001g0081 a0002c0002t0001g0089 |
2 | HG02074.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.572-10588C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535904 | |||||||
| chr12:111535925 | A | T | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.572-10609T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535925 | |||||||
| chr12:111535978 | C | T | 1 | a0002c0002t0001g0048 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.572-10662G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535978 | |||||||
| chr12:111535995 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-10679C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535995 | |||||||
| chr12:111535999 | C | CA | 10 | a0001c0001t0002g0233 a0001c0001t0004g0283 a0001c0003t0001g0140 others(7): Show |
10 | HG00544.hp1 HG02135.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.572-10684dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535999 | |||||||
| chr12:111535999 | C | CAAA | 33 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(30): Show |
33 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(30): Show |
intron_variant | MODIFIER | c.572-10686_572-1068 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535999 | |||||||
| chr12:111535999 | C | CAAAA | 6 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0012 others(3): Show |
6 | HG01943.hp2 HG02055.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.572-10687_572-1068 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111535999 | |||||||
| chr12:111536251 | T | G | 1 | a0003c0005t0001g0134 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.572-10935A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536251 | |||||||
| chr12:111536339 | G | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.572-11023C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536339 | |||||||
| chr12:111536476 | T | G | 82 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(79): Show |
82 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(79): Show |
intron_variant | MODIFIER | c.572-11160A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536476 | |||||||
| chr12:111536564 | C | T | 2 | a0002c0002t0001g0081 a0002c0002t0001g0089 |
2 | HG02074.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.572-11248G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536564 | |||||||
| chr12:111536609 | A | G | 1 | a0010c0015t0003g0019 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.572-11293T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536609 | |||||||
| chr12:111536777 | G | GT | 113 | a0001c0001t0001g0027 a0001c0001t0002g0223 a0001c0001t0002g0234 others(110): Show |
113 | HG00597.hp1 HG00597.hp2 HG01071.hp1 others(110): Show |
intron_variant | MODIFIER | c.572-11462dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536777 | |||||||
| chr12:111536777 | G | GTT | 21 | a0001c0001t0004g0246 a0001c0001t0004g0293 a0001c0001t0004g0295 others(18): Show |
21 | HG00544.hp2 HG01243.hp2 HG01993.hp1 others(18): Show |
intron_variant | MODIFIER | c.572-11463_572-1146 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536777 | |||||||
| chr12:111536780 | T | G | 2 | a0001c0001t0002g0217 a0001c0003t0003g0189 |
2 | HG01496.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.572-11464A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536780 | |||||||
| chr12:111536917 | A | G | 1 | a0002c0002t0001g0051 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.572-11601T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111536917 | |||||||
| chr12:111537019 | A | G | 209 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(206): Show |
209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.572-11703T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537019 | |||||||
| chr12:111537190 | T | C | 1 | a0001c0003t0001g0201 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.572-11874A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537190 | |||||||
| chr12:111537359 | C | A | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.572-12043G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537359 | |||||||
| chr12:111537401 | A | G | 1 | a0002c0002t0001g0075 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.572-12085T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537401 | |||||||
| chr12:111537455 | C | T | 6 | a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 others(3): Show |
6 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.572-12139G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537455 | |||||||
| chr12:111537549 | C | T | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.572-12233G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537549 | |||||||
| chr12:111537582 | C | CAAA | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.572-12269_572-1226 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111537582 | |||||||
| chr12:111538105 | GA | G | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.572-12790delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538105 | |||||||
| chr12:111538117 | C | A | 1 | a0002c0002t0001g0078 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.572-12801G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538117 | |||||||
| chr12:111538389 | C | CT | 43 | a0001c0001t0002g0266 a0001c0001t0004g0226 a0003c0004t0003g0008 others(40): Show |
43 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.572-13074dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538389 | |||||||
| chr12:111538476 | G | A | 1 | a0001c0001t0002g0218 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.572-13160C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538476 | |||||||
| chr12:111538972 | C | T | 234 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(231): Show |
234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.571+13308G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111538972 | |||||||
| chr12:111539525 | A | G | 1 | a0003c0006t0003g0116 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.571+12755T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539525 | |||||||
| chr12:111539574 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+12706G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111539574 | |||||||
| chr12:111540153 | A | AAACT | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+12126_571+1212 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540153 | |||||||
| chr12:111540225 | T | C | 2 | a0001c0001t0002g0292 a0008c0018t0002g0244 |
2 | HG01928.hp2 HG02148.hp2 |
intron_variant | MODIFIER | c.571+12055A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540225 | |||||||
| chr12:111540340 | C | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+11940G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540340 | |||||||
| chr12:111540579 | A | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.571+11701T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540579 | |||||||
| chr12:111540696 | C | CT | 12 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0269 others(9): Show |
12 | HG01071.hp2 HG02080.hp1 HG02135.hp1 others(9): Show |
intron_variant | MODIFIER | c.571+11583dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540696 | |||||||
| chr12:111540696 | CT | C | 40 | a0001c0003t0001g0150 a0003c0004t0003g0008 a0003c0004t0003g0009 others(37): Show |
40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.571+11583delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540696 | |||||||
| chr12:111540727 | C | T | 1 | a0002c0002t0001g0078 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.571+11553G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540727 | |||||||
| chr12:111540992 | G | A | 2 | a0003c0004t0003g0016 a0003c0004t0003g0017 |
2 | HG02970.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.571+11288C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111540992 | |||||||
| chr12:111541010 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+11270G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541010 | |||||||
| chr12:111541256 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+11024C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541256 | |||||||
| chr12:111541295 | A | G | 1 | a0001c0003t0001g0145 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.571+10985T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541295 | |||||||
| chr12:111541346 | CT | C | 270 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(267): Show |
270 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(267): Show |
intron_variant | MODIFIER | c.571+10933delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541346 | |||||||
| chr12:111541346 | CTT | C | 7 | a0001c0001t0002g0222 a0001c0001t0002g0275 a0001c0001t0002g0285 others(4): Show |
7 | HG01169.hp1 HG02486.hp1 HG02735.hp1 others(4): Show |
intron_variant | MODIFIER | c.571+10932_571+1093 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541346 | |||||||
| chr12:111541362 | T | C | 17 | a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0227 others(14): Show |
17 | HG01993.hp2 HG02135.hp1 HG02735.hp2 others(14): Show |
intron_variant | MODIFIER | c.571+10918A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541362 | |||||||
| chr12:111541381 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+10899A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541381 | |||||||
| chr12:111541435 | T | C | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.571+10845A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541435 | |||||||
| chr12:111541622 | C | T | 15 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(12): Show |
15 | HG02132.hp1 HG02135.hp2 HG02155.hp2 others(12): Show |
intron_variant | MODIFIER | c.571+10658G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541622 | |||||||
| chr12:111541800 | A | T | 42 | a0001c0001t0004g0247 a0003c0004t0003g0008 a0003c0004t0003g0009 others(39): Show |
42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.571+10480T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541800 | |||||||
| chr12:111541801 | T | A | 1 | a0001c0003t0001g0139 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.571+10479A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111541801 | |||||||
| chr12:111542300 | G | A | 1 | a0002c0002t0001g0071 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.571+9980C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542300 | |||||||
| chr12:111542310 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.571+9970T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542310 | |||||||
| chr12:111542336 | T | C | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.571+9944A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542336 | |||||||
| chr12:111542444 | T | A | 3 | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 |
3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.571+9836A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542444 | |||||||
| chr12:111542671 | T | A | 1 | a0001c0003t0001g0165 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.571+9609A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111542671 | |||||||
| chr12:111543141 | T | C | 6 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(3): Show |
6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.571+9139A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543141 | |||||||
| chr12:111543465 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+8815C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543465 | |||||||
| chr12:111543593 | C | G | 1 | a0002c0002t0001g0084 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.571+8687G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543593 | |||||||
| chr12:111543698 | C | T | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.571+8582G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543698 | |||||||
| chr12:111543736 | A | G | 1 | a0003c0004t0005g0018 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.571+8544T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543736 | |||||||
| chr12:111543747 | C | A | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.571+8533G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543747 | |||||||
| chr12:111543756 | A | C | 2 | a0001c0001t0002g0236 a0001c0001t0002g0237 |
2 | NA19004.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.571+8524T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543756 | |||||||
| chr12:111543761 | C | A | 1 | a0001c0003t0003g0167 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.571+8519G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543761 | |||||||
| chr12:111543854 | T | C | 2 | a0003c0006t0003g0112 a0003c0006t0003g0113 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.571+8426A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543854 | |||||||
| chr12:111543896 | T | C | 1 | a0003c0004t0003g0017 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.571+8384A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111543896 | |||||||
| chr12:111544099 | A | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+8181T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544099 | |||||||
| chr12:111544256 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.571+8024G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544256 | |||||||
| chr12:111544620 | G | A | 1 | a0002c0002t0001g0104 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.571+7660C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544620 | |||||||
| chr12:111544658 | G | T | 5 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0005c0023t0005g0122 others(2): Show |
5 | HG01943.hp2 HG02717.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.571+7622C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544658 | |||||||
| chr12:111544883 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+7397T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111544883 | |||||||
| chr12:111545009 | T | A | 234 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(231): Show |
234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.571+7271A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545009 | |||||||
| chr12:111545076 | G | A | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.571+7204C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545076 | |||||||
| chr12:111545226 | G | T | 4 | a0003c0006t0003g0109 a0003c0006t0003g0110 a0003c0006t0003g0116 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+7054C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545226 | |||||||
| chr12:111545299 | G | T | 1 | a0002c0016t0001g0077 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.571+6981C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545299 | |||||||
| chr12:111545453 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+6827C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545453 | |||||||
| chr12:111545563 | A | G | 1 | a0001c0001t0002g0252 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.571+6717T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545563 | |||||||
| chr12:111545897 | C | T | 3 | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 |
3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.571+6383G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545897 | |||||||
| chr12:111545950 | G | A | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.571+6330C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545950 | |||||||
| chr12:111545962 | G | GA | 89 | a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0194 others(86): Show |
89 | HG00408.hp2 HG00544.hp2 HG00597.hp1 others(86): Show |
intron_variant | MODIFIER | c.571+6317dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545962 | |||||||
| chr12:111545962 | GA | G | 8 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0258 others(5): Show |
8 | HG01256.hp2 HG02280.hp1 HG02280.hp2 others(5): Show |
intron_variant | MODIFIER | c.571+6317delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111545962 | |||||||
| chr12:111546033 | G | A | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.571+6247C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546033 | |||||||
| chr12:111546250 | T | C | 9 | a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 others(6): Show |
9 | HG02572.hp2 HG02630.hp2 HG03041.hp1 others(6): Show |
intron_variant | MODIFIER | c.571+6030A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546250 | |||||||
| chr12:111546421 | T | C | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.571+5859A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546421 | |||||||
| chr12:111546530 | G | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+5750C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546530 | |||||||
| chr12:111546945 | A | G | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.571+5335T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546945 | |||||||
| chr12:111546965 | T | C | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.571+5315A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546965 | |||||||
| chr12:111546997 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+5283G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111546997 | |||||||
| chr12:111547047 | T | C | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+5233A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547047 | |||||||
| chr12:111547151 | G | A | 1 | a0001c0001t0004g0246 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.571+5129C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547151 | |||||||
| chr12:111547204 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+5076C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547204 | |||||||
| chr12:111547463 | C | T | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.571+4817G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547463 | |||||||
| chr12:111547581 | C | T | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.571+4699G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547581 | |||||||
| chr12:111547672 | C | A | 2 | a0001c0003t0001g0157 a0003c0005t0001g0125 |
2 | HG02970.hp2 HG03130.hp1 |
intron_variant | MODIFIER | c.571+4608G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547672 | |||||||
| chr12:111547777 | T | TA | 71 | a0001c0001t0002g0268 a0001c0001t0002g0289 a0001c0003t0001g0174 others(68): Show |
71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.571+4502dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547777 | |||||||
| chr12:111547818 | A | G | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.571+4462T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547818 | |||||||
| chr12:111547836 | A | AT | 54 | a0001c0001t0002g0231 a0001c0001t0002g0236 a0001c0001t0002g0237 others(51): Show |
54 | HG00544.hp2 HG01168.hp2 HG01169.hp2 others(51): Show |
intron_variant | MODIFIER | c.571+4443dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547836 | |||||||
| chr12:111547836 | AT | A | 81 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0234 others(78): Show |
81 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(78): Show |
intron_variant | MODIFIER | c.571+4443delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547836 | |||||||
| chr12:111547900 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.571+4380A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547900 | |||||||
| chr12:111547901 | G | A | 2 | a0003c0004t0003g0010 a0003c0004t0003g0012 |
2 | HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.571+4379C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111547901 | |||||||
| chr12:111548050 | G | A | 1 | a0002c0002t0001g0062 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.571+4230C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548050 | |||||||
| chr12:111548150 | G | A | 78 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(75): Show |
78 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.571+4130C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548150 | |||||||
| chr12:111548216 | C | T | 1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.571+4064G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548216 | |||||||
| chr12:111548443 | CAG | C | 5 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0005c0023t0005g0122 others(2): Show |
5 | HG01943.hp2 HG02717.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.571+3835_571+3836d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548443 | |||||||
| chr12:111548575 | A | T | 1 | a0002c0002t0001g0084 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.571+3705T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548575 | |||||||
| chr12:111548631 | A | G | 3 | a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0253 |
3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.571+3649T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548631 | |||||||
| chr12:111548698 | C | T | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.571+3582G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548698 | |||||||
| chr12:111548935 | C | G | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.571+3345G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111548935 | |||||||
| chr12:111549010 | G | A | 1 | a0003c0005t0001g0134 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.571+3270C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549010 | |||||||
| chr12:111549124 | A | C | 1 | a0001c0001t0002g0260 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.571+3156T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549124 | |||||||
| chr12:111549184 | T | G | 1 | a0003c0004t0003g0021 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.571+3096A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549184 | |||||||
| chr12:111549188 | C | T | 1 | a0002c0002t0003g0095 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.571+3092G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111549188 | |||||||
| chr12:111550062 | C | CA | 93 | a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0236 others(90): Show |
93 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(90): Show |
intron_variant | MODIFIER | c.571+2217dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550062 | |||||||
| chr12:111550062 | CA | C | 37 | a0001c0001t0002g0225 a0002c0002t0001g0055 a0003c0004t0003g0008 others(34): Show |
37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.571+2217delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550062 | |||||||
| chr12:111550078 | A | G | 1 | a0001c0003t0001g0198 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.571+2202T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550078 | |||||||
| chr12:111550435 | C | T | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.571+1845G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550435 | |||||||
| chr12:111550497 | C | T | 1 | a0003c0005t0003g0127 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.571+1783G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550497 | |||||||
| chr12:111550628 | A | G | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+1652T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550628 | |||||||
| chr12:111550984 | G | C | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.571+1296C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111550984 | |||||||
| chr12:111551069 | C | T | 1 | a0003c0004t0005g0006 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.571+1211G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551069 | |||||||
| chr12:111551264 | TC | T | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.571+1015delG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551264 | |||||||
| chr12:111551295 | CA | C | 42 | a0001c0001t0002g0260 a0001c0001t0004g0239 a0001c0026t0001g0175 others(39): Show |
42 | HG00099.hp1 HG01168.hp2 HG01169.hp2 others(39): Show |
intron_variant | MODIFIER | c.571+984delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551295 | |||||||
| chr12:111551432 | A | G | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+848T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551432 | |||||||
| chr12:111551518 | G | A | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+762C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551518 | |||||||
| chr12:111551669 | G | A | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.571+611C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551669 | |||||||
| chr12:111551674 | G | T | 4 | a0001c0001t0006g0235 a0001c0001t0006g0265 a0001c0001t0006g0267 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+606C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551674 | |||||||
| chr12:111551854 | C | T | 129 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(126): Show |
129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.571+426G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551854 | |||||||
| chr12:111551887 | C | CTT | 6 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(3): Show |
6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.571+391_571+392dup others(2): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551887 | |||||||
| chr12:111551944 | G | A | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.571+336C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111551944 | |||||||
| chr12:111552167 | C | T | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.571+113G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111552167 | |||||||
| chr12:111552175 | C | A | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.571+105G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 5/24 | chr12 | 111552175 | |||||||
| chr12:111552540 | T | C | 1 | a0001c0001t0002g0271 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.421-110A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4/24 | chr12 | 111552540 | |||||||
| chr12:111552544 | A | G | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.421-114T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4/24 | chr12 | 111552544 | |||||||
| chr12:111552814 | A | C | 1 | a0001c0003t0001g0146 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.420+92T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 4/24 | chr12 | 111552814 | |||||||
| chr12:111553445 | A | C | 2 | a0001c0001t0002g0229 a0001c0001t0006g0257 |
2 | HG03654.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.349-468T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553445 | |||||||
| chr12:111553461 | C | T | 1 | a0006c0009t0003g0105 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.349-484G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553461 | |||||||
| chr12:111553478 | C | T | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.349-501G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553478 | |||||||
| chr12:111553481 | T | C | 1 | a0001c0001t0006g0257 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.349-504A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553481 | |||||||
| chr12:111553572 | C | CA | 17 | a0001c0001t0002g0233 a0001c0001t0002g0252 a0001c0001t0002g0254 others(14): Show |
17 | HG00544.hp1 HG01361.hp1 HG01433.hp2 others(14): Show |
intron_variant | MODIFIER | c.348+585dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553572 | |||||||
| chr12:111553572 | CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0002g0234 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.348+575_348+585del others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553572 | |||||||
| chr12:111553572 | CAAAAAAA others(9): Show |
C | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.348+570_348+585del others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553572 | |||||||
| chr12:111553573 | A | C | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.348+585T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553573 | |||||||
| chr12:111553595 | A | T | 1 | a0001c0001t0004g0245 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.348+563T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553595 | |||||||
| chr12:111553596 | A | T | 1 | a0001c0001t0004g0245 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.348+562T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553596 | |||||||
| chr12:111553597 | A | ATTTTTT | 8 | a0003c0004t0003g0014 a0003c0004t0003g0024 a0003c0004t0005g0020 others(5): Show |
8 | HG01943.hp2 HG02280.hp1 HG02717.hp1 others(5): Show |
intron_variant | MODIFIER | c.348+560_348+561ins others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553597 | |||||||
| chr12:111553597 | A | ATTTTTTT | 5 | a0003c0005t0003g0137 a0003c0006t0003g0109 a0003c0006t0003g0110 others(2): Show |
5 | HG02630.hp1 HG02818.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.348+560_348+561ins others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553597 | |||||||
| chr12:111553597 | A | T | 1 | a0001c0001t0004g0245 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.348+561T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553597 | |||||||
| chr12:111553598 | A | ATTTTTTT | 3 | a0003c0004t0003g0022 a0003c0006t0003g0112 a0004c0020t0003g0119 |
3 | HG01169.hp2 HG02257.hp1 HG02486.hp2 |
intron_variant | MODIFIER | c.348+559_348+560ins others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553598 | |||||||
| chr12:111553598 | A | T | 14 | a0001c0001t0004g0245 a0003c0004t0003g0014 a0003c0004t0003g0024 others(11): Show |
14 | HG01943.hp2 HG02280.hp1 HG02630.hp1 others(11): Show |
intron_variant | MODIFIER | c.348+560T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553598 | |||||||
| chr12:111553599 | A | ATTTTTTT others(1): Show |
10 | a0003c0004t0003g0015 a0003c0004t0003g0017 a0003c0004t0005g0007 others(7): Show |
10 | HG01168.hp2 HG02280.hp2 HG02976.hp2 others(7): Show |
intron_variant | MODIFIER | c.348+558_348+559ins others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553599 | |||||||
| chr12:111553599 | A | ATTTTTTT others(3): Show |
1 | a0003c0006t0003g0117 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.348+558_348+559ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553599 | |||||||
| chr12:111553599 | A | T | 21 | a0001c0001t0004g0245 a0001c0003t0001g0162 a0003c0004t0003g0008 others(18): Show |
21 | HG01169.hp2 HG01243.hp2 HG01943.hp2 others(18): Show |
intron_variant | MODIFIER | c.348+559T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553599 | |||||||
| chr12:111553600 | A | ATTT | 5 | a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 others(2): Show |
5 | HG01884.hp2 HG02451.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.348+557_348+558ins others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553600 | |||||||
| chr12:111553600 | A | ATTTTTTT others(2): Show |
5 | a0003c0004t0003g0013 a0003c0004t0003g0023 a0003c0004t0005g0006 others(2): Show |
5 | HG01884.hp1 HG02055.hp2 HG02559.hp1 others(2): Show |
intron_variant | MODIFIER | c.348+557_348+558ins others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553600 | |||||||
| chr12:111553600 | A | T | 36 | a0001c0001t0004g0245 a0001c0003t0001g0162 a0003c0004t0003g0008 others(33): Show |
36 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.348+558T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553600 | |||||||
| chr12:111553601 | A | ATTTT | 3 | a0002c0002t0001g0025 a0002c0002t0001g0041 a0002c0002t0001g0096 |
3 | HG02145.hp2 HG02622.hp1 NA19074.hp1 |
intron_variant | MODIFIER | c.348+556_348+557ins others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | |||||||
| chr12:111553601 | A | ATTTTT | 44 | a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(41): Show |
44 | HG00544.hp2 HG00597.hp1 HG01256.hp1 others(41): Show |
intron_variant | MODIFIER | c.348+556_348+557ins others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | |||||||
| chr12:111553601 | A | ATTTTTTT others(3): Show |
1 | a0011c0013t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.348+556_348+557ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | |||||||
| chr12:111553601 | A | T | 51 | a0001c0001t0004g0245 a0001c0003t0001g0162 a0002c0002t0001g0055 others(48): Show |
51 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(48): Show |
intron_variant | MODIFIER | c.348+557T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553601 | |||||||
| chr12:111553602 | A | ATTTT | 30 | a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 others(27): Show |
30 | HG00099.hp1 HG02109.hp1 HG02132.hp1 others(27): Show |
intron_variant | MODIFIER | c.348+555_348+556ins others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553602 | |||||||
| chr12:111553602 | A | ATTTTTT | 20 | a0002c0002t0001g0037 a0002c0002t0001g0052 a0002c0002t0001g0058 others(17): Show |
20 | HG01071.hp1 HG01123.hp1 HG01928.hp1 others(17): Show |
intron_variant | MODIFIER | c.348+555_348+556ins others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553602 | |||||||
| chr12:111553602 | A | T | 102 | a0001c0001t0004g0245 a0001c0003t0001g0162 a0001c0003t0001g0211 others(99): Show |
102 | HG00544.hp2 HG00597.hp1 HG01168.hp2 others(99): Show |
intron_variant | MODIFIER | c.348+556T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553602 | |||||||
| chr12:111553603 | A | ATTTTT | 23 | a0001c0003t0001g0140 a0001c0003t0001g0145 a0001c0003t0001g0150 others(20): Show |
23 | HG00642.hp2 HG01361.hp2 HG02027.hp2 others(20): Show |
intron_variant | MODIFIER | c.348+554_348+555ins others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553603 | |||||||
| chr12:111553603 | A | T | 153 | a0001c0001t0004g0245 a0001c0003t0001g0141 a0001c0003t0001g0142 others(150): Show |
153 | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(150): Show |
intron_variant | MODIFIER | c.348+555T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553603 | |||||||
| chr12:111553604 | A | AAAAAAAT others(8): Show |
1 | a0001c0001t0004g0240 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.348+553_348+554ins others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAAAAATT others(7): Show |
1 | a0001c0001t0004g0226 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAAAATTT others(6): Show |
2 | a0001c0001t0004g0216 a0001c0001t0004g0283 |
2 | HG02135.hp1 HG04115.hp1 |
intron_variant | MODIFIER | c.348+553_348+554ins others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAAATTTT others(3): Show |
1 | a0001c0001t0001g0027 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAAATTTT others(5): Show |
4 | a0001c0001t0002g0237 a0001c0001t0004g0246 a0001c0001t0004g0247 others(1): Show |
4 | HG03710.hp1 NA18952.hp2 NA18973.hp1 others(1): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAAATTTT others(6): Show |
1 | a0001c0001t0002g0228 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAATTTTT others(3): Show |
1 | a0001c0001t0004g0297 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.348+553_348+554ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAATTTTT others(4): Show |
8 | a0001c0001t0002g0223 a0001c0001t0002g0236 a0001c0001t0004g0227 others(5): Show |
8 | HG02965.hp1 HG03098.hp1 HG03492.hp1 others(5): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AAATTTTT others(5): Show |
4 | a0001c0001t0002g0229 a0001c0001t0002g0248 a0001c0001t0002g0271 others(1): Show |
4 | HG03195.hp2 HG03704.hp1 HG03710.hp2 others(1): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AATTTTTT | 11 | a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0181 others(8): Show |
11 | HG00597.hp2 HG02056.hp2 HG02129.hp2 others(8): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AATTTTTT others(3): Show |
5 | a0001c0001t0002g0222 a0001c0001t0002g0238 a0001c0001t0002g0266 others(2): Show |
5 | HG02735.hp1 HG02735.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.348+553_348+554ins others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | AATTTTTT others(4): Show |
2 | a0001c0001t0002g0282 a0001c0001t0006g0257 |
2 | HG03041.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.348+553_348+554ins others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | ATTTTTT | 15 | a0001c0003t0001g0139 a0001c0003t0001g0144 a0001c0003t0001g0148 others(12): Show |
15 | HG00408.hp2 HG01081.hp1 HG01167.hp1 others(12): Show |
intron_variant | MODIFIER | c.348+548_348+553dup others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | ATTTTTTT others(3): Show |
3 | a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0253 |
3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.348+544_348+553dup others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553604 | A | T | 179 | a0001c0001t0004g0245 a0001c0003t0001g0140 a0001c0003t0001g0141 others(176): Show |
179 | HG00099.hp1 HG00544.hp2 HG00597.hp1 others(176): Show |
intron_variant | MODIFIER | c.348+554T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553604 | |||||||
| chr12:111553605 | T | A | 1 | a0001c0001t0002g0298 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.348+553A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553605 | |||||||
| chr12:111553789 | C | T | 71 | a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(68): Show |
71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.348+369G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553789 | |||||||
| chr12:111553908 | C | T | 1 | a0002c0002t0001g0048 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.348+250G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 3/24 | chr12 | 111553908 | |||||||
| chr12:111554227 | T | A | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.289-10A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554227 | |||||||
| chr12:111554274 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.289-57G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554274 | |||||||
| chr12:111554336 | T | C | 6 | a0001c0003t0001g0157 a0001c0003t0001g0163 a0001c0003t0001g0191 others(3): Show |
6 | HG01081.hp1 HG02886.hp2 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.289-119A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554336 | |||||||
| chr12:111554397 | C | T | 2 | a0001c0001t0004g0226 a0001c0001t0004g0245 |
2 | NA18943.hp1 NA18974.hp1 |
intron_variant | MODIFIER | c.289-180G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554397 | |||||||
| chr12:111554702 | G | A | 2 | a0002c0002t0001g0073 a0002c0002t0001g0074 |
2 | HG01123.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.289-485C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554702 | |||||||
| chr12:111554791 | A | G | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.289-574T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111554791 | |||||||
| chr12:111555226 | T | C | 1 | a0001c0003t0001g0150 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.288+657A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555226 | |||||||
| chr12:111555302 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.288+581C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555302 | |||||||
| chr12:111555316 | A | G | 1 | a0001c0003t0001g0143 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.288+567T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555316 | |||||||
| chr12:111555571 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.288+312A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555571 | |||||||
| chr12:111555681 | A | C | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.288+202T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555681 | |||||||
| chr12:111555716 | C | CAT | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.288+166_288+167ins others(2): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555716 | |||||||
| chr12:111555767 | G | A | 3 | a0003c0005t0001g0129 a0003c0005t0001g0130 a0003c0005t0001g0131 |
3 | HG01243.hp1 HG02145.hp1 HG02683.hp1 |
intron_variant | MODIFIER | c.288+116C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 2/24 | chr12 | 111555767 | |||||||
| chr12:111556082 | A | G | 234 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(231): Show |
234 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(231): Show |
intron_variant | MODIFIER | c.252-163T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556082 | |||||||
| chr12:111556354 | C | T | 1 | a0003c0005t0001g0125 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.252-435G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556354 | |||||||
| chr12:111556862 | G | GA | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-944dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556862 | |||||||
| chr12:111556923 | C | A | 2 | a0001c0001t0002g0280 a0001c0001t0002g0298 |
2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.252-1004G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111556923 | |||||||
| chr12:111557048 | A | C | 65 | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 others(62): Show |
65 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(62): Show |
intron_variant | MODIFIER | c.252-1129T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557048 | |||||||
| chr12:111557219 | T | C | 1 | a0001c0003t0001g0200 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.252-1300A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557219 | |||||||
| chr12:111557412 | A | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-1493T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557412 | |||||||
| chr12:111557524 | C | T | 1 | a0003c0004t0003g0021 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.252-1605G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557524 | |||||||
| chr12:111557674 | C | T | 39 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(36): Show |
39 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.252-1755G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557674 | |||||||
| chr12:111557811 | T | C | 1 | a0002c0002t0001g0091 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.252-1892A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557811 | |||||||
| chr12:111557839 | A | G | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.252-1920T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557839 | |||||||
| chr12:111557892 | A | G | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-1973T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111557892 | |||||||
| chr12:111558174 | G | A | 1 | a0003c0004t0005g0006 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.252-2255C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558174 | |||||||
| chr12:111558195 | T | C | 12 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(9): Show |
12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.252-2276A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558195 | |||||||
| chr12:111558727 | G | A | 1 | a0001c0003t0001g0157 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.252-2808C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558727 | |||||||
| chr12:111558753 | T | C | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.252-2834A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558753 | |||||||
| chr12:111558952 | T | TA | 252 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(249): Show |
252 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(249): Show |
intron_variant | MODIFIER | c.252-3034dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558952 | |||||||
| chr12:111558952 | T | TAA | 42 | a0001c0003t0001g0144 a0002c0002t0001g0083 a0003c0004t0003g0008 others(39): Show |
42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.252-3035_252-3034d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111558952 | |||||||
| chr12:111559136 | G | GT | 20 | a0001c0001t0002g0276 a0001c0001t0004g0283 a0002c0002t0001g0069 others(17): Show |
20 | HG01884.hp1 HG02055.hp2 HG02080.hp2 others(17): Show |
intron_variant | MODIFIER | c.252-3218dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559136 | |||||||
| chr12:111559136 | G | T | 1 | a0001c0003t0001g0142 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.252-3217C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559136 | |||||||
| chr12:111559187 | C | T | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.252-3268G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559187 | |||||||
| chr12:111559219 | G | A | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.252-3300C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559219 | |||||||
| chr12:111559227 | G | C | 1 | a0003c0004t0003g0021 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.252-3308C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559227 | |||||||
| chr12:111559349 | T | A | 1 | a0003c0004t0003g0023 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.252-3430A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559349 | |||||||
| chr12:111559595 | A | C | 14 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(11): Show |
14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.252-3676T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559595 | |||||||
| chr12:111559698 | G | C | 85 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(82): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.252-3779C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559698 | |||||||
| chr12:111559777 | C | CA | 7 | a0001c0001t0002g0221 a0001c0003t0001g0154 a0001c0003t0001g0206 others(4): Show |
7 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-3859dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559777 | |||||||
| chr12:111559777 | CA | C | 45 | a0002c0002t0001g0025 a0002c0002t0001g0093 a0002c0002t0001g0096 others(42): Show |
45 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(42): Show |
intron_variant | MODIFIER | c.252-3859delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559777 | |||||||
| chr12:111559782 | A | C | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.252-3863T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559782 | |||||||
| chr12:111559786 | A | G | 1 | a0001c0001t0002g0217 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.252-3867T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559786 | |||||||
| chr12:111559963 | A | C | 1 | a0001c0003t0001g0173 | 1 | NA18945.hp1 | intron_variant | MODIFIER | c.252-4044T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111559963 | |||||||
| chr12:111560098 | G | A | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.252-4179C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560098 | |||||||
| chr12:111560343 | A | T | 1 | a0003c0005t0001g0130 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.252-4424T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560343 | |||||||
| chr12:111560626 | T | C | 2 | a0001c0001t0002g0242 a0001c0003t0001g0156 |
2 | HG01943.hp1 HG03927.hp2 |
intron_variant | MODIFIER | c.252-4707A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560626 | |||||||
| chr12:111560767 | A | AT | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.252-4849_252-4848i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560767 | |||||||
| chr12:111560950 | C | T | 1 | a0003c0006t0003g0114 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.252-5031G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560950 | |||||||
| chr12:111560996 | G | A | 4 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(1): Show |
4 | HG01167.hp1 HG02818.hp2 HG03486.hp1 others(1): Show |
intron_variant | MODIFIER | c.252-5077C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111560996 | |||||||
| chr12:111561396 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-5477A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561396 | |||||||
| chr12:111561423 | C | A | 1 | a0002c0002t0001g0073 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.252-5504G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561423 | |||||||
| chr12:111561495 | C | T | 1 | a0001c0003t0001g0164 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.252-5576G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561495 | |||||||
| chr12:111561766 | G | A | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.252-5847C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111561766 | |||||||
| chr12:111562122 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-6203G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562122 | |||||||
| chr12:111562162 | A | G | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.252-6243T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562162 | |||||||
| chr12:111562199 | T | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-6280A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562199 | |||||||
| chr12:111562346 | C | T | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-6427G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562346 | |||||||
| chr12:111562511 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-6592C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562511 | |||||||
| chr12:111562720 | C | CA | 14 | a0001c0001t0002g0229 a0001c0001t0002g0234 a0001c0001t0002g0256 others(11): Show |
14 | HG01123.hp1 HG01361.hp1 HG02027.hp1 others(11): Show |
intron_variant | MODIFIER | c.252-6802dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | |||||||
| chr12:111562720 | CA | C | 80 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0263 others(77): Show |
80 | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(77): Show |
intron_variant | MODIFIER | c.252-6802delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | |||||||
| chr12:111562720 | CAA | C | 9 | a0001c0003t0001g0152 a0001c0003t0001g0157 a0001c0003t0001g0184 others(6): Show |
9 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.252-6803_252-6802d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | |||||||
| chr12:111562720 | CAAA | C | 38 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(35): Show |
38 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.252-6804_252-6802d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562720 | |||||||
| chr12:111562844 | A | T | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.252-6925T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111562844 | |||||||
| chr12:111563048 | A | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.252-7129T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563048 | |||||||
| chr12:111563058 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.252-7139A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563058 | |||||||
| chr12:111563213 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-7294A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563213 | |||||||
| chr12:111563590 | A | G | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.252-7671T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563590 | |||||||
| chr12:111563597 | A | G | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-7678T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563597 | |||||||
| chr12:111563719 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-7800A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563719 | |||||||
| chr12:111563775 | C | T | 2 | a0002c0002t0001g0068 a0002c0002t0001g0070 |
2 | NA18969.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.252-7856G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111563775 | |||||||
| chr12:111564007 | T | C | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.252-8088A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564007 | |||||||
| chr12:111564022 | T | C | 2 | a0003c0004t0003g0024 a0003c0012t0003g0003 |
2 | HG02280.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.252-8103A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564022 | |||||||
| chr12:111564485 | GA | G | 88 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(85): Show |
88 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.252-8567delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564485 | |||||||
| chr12:111564485 | GAA | G | 29 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(26): Show |
29 | HG01243.hp2 HG01884.hp1 HG01943.hp2 others(26): Show |
intron_variant | MODIFIER | c.252-8568_252-8567d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564485 | |||||||
| chr12:111564496 | AAAG | A | 12 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(9): Show |
12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.252-8580_252-8578d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564496 | |||||||
| chr12:111564571 | T | C | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.252-8652A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564571 | |||||||
| chr12:111564805 | T | G | 1 | a0003c0006t0003g0116 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8886A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564805 | |||||||
| chr12:111564806 | T | C | 1 | a0003c0006t0003g0116 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8887A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564806 | |||||||
| chr12:111564807 | T | C | 1 | a0003c0006t0003g0116 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8888A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564807 | |||||||
| chr12:111564808 | A | C | 1 | a0003c0006t0003g0116 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.252-8889T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564808 | |||||||
| chr12:111564810 | T | C | 4 | a0001c0003t0003g0187 a0001c0003t0003g0188 a0001c0003t0003g0189 others(1): Show |
4 | HG01496.hp2 HG01952.hp2 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.252-8891A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564810 | |||||||
| chr12:111564875 | G | A | 1 | a0001c0003t0001g0156 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.252-8956C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564875 | |||||||
| chr12:111564896 | T | C | 2 | a0001c0001t0002g0273 a0001c0001t0002g0291 |
2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.252-8977A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564896 | |||||||
| chr12:111564926 | T | C | 2 | a0001c0001t0002g0220 a0001c0001t0002g0234 |
2 | HG00408.hp1 NA19083.hp1 |
intron_variant | MODIFIER | c.252-9007A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111564926 | |||||||
| chr12:111565102 | A | G | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.252-9183T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565102 | |||||||
| chr12:111565104 | T | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-9185A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565104 | |||||||
| chr12:111565165 | GA | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-9247delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565165 | |||||||
| chr12:111565200 | T | C | 1 | a0002c0002t0001g0092 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.252-9281A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565200 | |||||||
| chr12:111565287 | A | G | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.252-9368T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565287 | |||||||
| chr12:111565294 | G | A | 1 | a0001c0003t0001g0147 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.252-9375C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565294 | |||||||
| chr12:111565426 | T | C | 1 | a0002c0002t0001g0075 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.252-9507A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565426 | |||||||
| chr12:111565546 | T | C | 129 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(126): Show |
129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.252-9627A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565546 | |||||||
| chr12:111565579 | G | T | 209 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(206): Show |
209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.252-9660C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565579 | |||||||
| chr12:111565869 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-9950C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565869 | |||||||
| chr12:111565891 | T | A | 4 | a0001c0003t0001g0177 a0001c0003t0001g0180 a0001c0026t0001g0175 others(1): Show |
4 | HG00099.hp1 HG00642.hp2 HG01361.hp2 others(1): Show |
intron_variant | MODIFIER | c.252-9972A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565891 | |||||||
| chr12:111565967 | C | T | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.252-10048G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565967 | |||||||
| chr12:111565995 | CA | C | 10 | a0001c0001t0002g0219 a0001c0001t0002g0253 a0001c0001t0002g0284 others(7): Show |
10 | HG01081.hp2 HG01167.hp2 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.252-10077delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111565995 | |||||||
| chr12:111566127 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-10208A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566127 | |||||||
| chr12:111566235 | C | T | 1 | a0007c0011t0001g0214 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.252-10316G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566235 | |||||||
| chr12:111566259 | C | G | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.252-10340G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566259 | |||||||
| chr12:111566332 | T | TGAGGCAG others(17): Show |
1 | a0001c0003t0001g0181 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-10437_252-1041 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566332 | |||||||
| chr12:111566448 | G | A | 1 | a0002c0002t0001g0058 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.252-10529C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566448 | |||||||
| chr12:111566448 | G | GA | 205 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0290 others(202): Show |
205 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(202): Show |
intron_variant | MODIFIER | c.252-10530dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566448 | |||||||
| chr12:111566592 | G | A | 1 | a0001c0001t0002g0250 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.252-10673C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566592 | |||||||
| chr12:111566638 | C | CT | 6 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(3): Show |
6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.252-10720dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566638 | |||||||
| chr12:111566931 | C | A | 1 | a0001c0001t0002g0228 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.252-11012G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566931 | |||||||
| chr12:111566992 | G | A | 1 | a0001c0001t0002g0270 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.252-11073C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111566992 | |||||||
| chr12:111567137 | T | C | 1 | a0002c0002t0001g0096 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.252-11218A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567137 | |||||||
| chr12:111567224 | G | A | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.252-11305C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567224 | |||||||
| chr12:111567228 | G | A | 2 | a0002c0002t0001g0037 a0002c0002t0001g0104 |
2 | HG01975.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.252-11309C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567228 | |||||||
| chr12:111567266 | T | C | 3 | a0003c0004t0003g0021 a0003c0005t0003g0137 a0006c0009t0003g0105 |
3 | HG01243.hp2 HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.252-11347A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567266 | |||||||
| chr12:111567415 | A | C | 1 | a0001c0003t0001g0181 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-11496T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567415 | |||||||
| chr12:111567606 | G | A | 3 | a0003c0004t0003g0021 a0003c0005t0003g0137 a0006c0009t0003g0105 |
3 | HG01243.hp2 HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.252-11687C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567606 | |||||||
| chr12:111567683 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-11764C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111567683 | |||||||
| chr12:111568059 | A | C | 1 | a0001c0001t0002g0250 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.252-12140T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568059 | |||||||
| chr12:111568118 | G | A | 1 | a0003c0005t0003g0128 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.252-12199C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568118 | |||||||
| chr12:111568451 | G | C | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.252-12532C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568451 | |||||||
| chr12:111568485 | T | A | 1 | a0001c0003t0001g0181 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-12566A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568485 | |||||||
| chr12:111568525 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-12606A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568525 | |||||||
| chr12:111568652 | A | T | 1 | a0003c0004t0005g0006 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.252-12733T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568652 | |||||||
| chr12:111568707 | C | A | 1 | a0001c0003t0001g0181 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-12788G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568707 | |||||||
| chr12:111568991 | TTTTTG | T | 237 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0222 others(234): Show |
237 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(234): Show |
intron_variant | MODIFIER | c.252-13077_252-1307 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568991 | |||||||
| chr12:111568991 | TTTTTGTT others(3): Show |
T | 2 | a0001c0003t0001g0212 a0003c0005t0001g0132 |
2 | NA18979.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.252-13082_252-1307 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111568991 | |||||||
| chr12:111569244 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-13325A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569244 | |||||||
| chr12:111569248 | A | T | 1 | a0001c0003t0001g0181 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-13329T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569248 | |||||||
| chr12:111569501 | AGTCCAGG others(16): Show |
A | 1 | a0001c0003t0001g0181 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.252-13605_252-1358 others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569501 | |||||||
| chr12:111569535 | G | C | 1 | a0003c0004t0005g0007 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.252-13616C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569535 | |||||||
| chr12:111569536 | C | T | 1 | a0002c0002t0001g0097 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.252-13617G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569536 | |||||||
| chr12:111569558 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-13639C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569558 | |||||||
| chr12:111569874 | G | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.252-13955C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569874 | |||||||
| chr12:111569908 | G | A | 2 | a0002c0002t0001g0025 a0002c0002t0001g0096 |
2 | HG02145.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.252-13989C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569908 | |||||||
| chr12:111569952 | C | T | 283 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(280): Show |
283 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(280): Show |
intron_variant | MODIFIER | c.252-14033G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569952 | |||||||
| chr12:111569975 | G | A | 2 | a0003c0004t0003g0009 a0003c0004t0005g0011 |
2 | HG02055.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.252-14056C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569975 | |||||||
| chr12:111569981 | G | A | 6 | a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0208 others(3): Show |
6 | HG02109.hp1 HG02257.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.252-14062C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111569981 | |||||||
| chr12:111570005 | G | C | 4 | a0003c0006t0003g0109 a0003c0006t0003g0110 a0003c0006t0003g0116 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.252-14086C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570005 | |||||||
| chr12:111570006 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-14087T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570006 | |||||||
| chr12:111570007 | T | C | 2 | a0002c0002t0001g0025 a0002c0002t0001g0096 |
2 | HG02145.hp2 HG02622.hp1 |
intron_variant | MODIFIER | c.252-14088A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570007 | |||||||
| chr12:111570153 | G | A | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.252-14234C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570153 | |||||||
| chr12:111570438 | C | T | 209 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(206): Show |
209 | HG00099.hp1 HG00408.hp2 HG00544.hp2 others(206): Show |
intron_variant | MODIFIER | c.252-14519G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570438 | |||||||
| chr12:111570514 | C | G | 1 | a0002c0002t0001g0071 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.252-14595G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570514 | |||||||
| chr12:111570895 | G | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-14976C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570895 | |||||||
| chr12:111570906 | T | C | 1 | a0002c0002t0001g0067 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.252-14987A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111570906 | |||||||
| chr12:111571157 | G | C | 3 | a0001c0001t0002g0231 a0001c0001t0002g0249 a0001c0001t0002g0253 |
3 | HG02572.hp2 HG02630.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.252-15238C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571157 | |||||||
| chr12:111571337 | A | G | 1 | a0001c0003t0001g0194 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.252-15418T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571337 | |||||||
| chr12:111571387 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.252-15468T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571387 | |||||||
| chr12:111571413 | GTTAAGTT others(9): Show |
G | 1 | a0002c0002t0001g0079 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.252-15510_252-1549 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571413 | |||||||
| chr12:111571458 | G | C | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.252-15539C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571458 | |||||||
| chr12:111571464 | T | C | 7 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 others(4): Show |
7 | HG02735.hp1 HG03017.hp1 HG03704.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-15545A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571464 | |||||||
| chr12:111571610 | G | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-15691C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571610 | |||||||
| chr12:111571725 | A | C | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.252-15806T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571725 | |||||||
| chr12:111571943 | C | G | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-16024G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111571943 | |||||||
| chr12:111572011 | C | CA | 7 | a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0248 others(4): Show |
7 | HG02572.hp2 HG02897.hp1 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.252-16093dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572011 | |||||||
| chr12:111572011 | C | CAA | 7 | a0001c0001t0002g0253 a0001c0003t0001g0144 a0001c0003t0001g0145 others(4): Show |
7 | HG01167.hp1 HG02630.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-16094_252-1609 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572011 | |||||||
| chr12:111572011 | C | CAAA | 77 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0003t0001g0139 others(74): Show |
77 | HG00099.hp1 HG00597.hp2 HG00642.hp2 others(74): Show |
intron_variant | MODIFIER | c.252-16095_252-1609 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572011 | |||||||
| chr12:111572026 | A | AG | 79 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(76): Show |
79 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(76): Show |
intron_variant | MODIFIER | c.252-16108dupC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572026 | |||||||
| chr12:111572027 | G | A | 129 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(126): Show |
129 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(126): Show |
intron_variant | MODIFIER | c.252-16108C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572027 | |||||||
| chr12:111572231 | T | A | 1 | a0001c0010t0001g0168 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.252-16312A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572231 | |||||||
| chr12:111572282 | C | A | 1 | a0001c0003t0001g0166 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.252-16363G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572282 | |||||||
| chr12:111572294 | G | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.252-16375C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572294 | |||||||
| chr12:111572401 | C | CA | 84 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(81): Show |
84 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(81): Show |
intron_variant | MODIFIER | c.252-16483dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572401 | |||||||
| chr12:111572477 | G | A | 1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.252-16558C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572477 | |||||||
| chr12:111572511 | A | C | 2 | a0002c0002t0001g0100 a0002c0002t0001g0101 |
2 | HG02559.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.252-16592T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572511 | |||||||
| chr12:111572927 | T | C | 2 | a0001c0003t0001g0148 a0003c0005t0003g0127 |
2 | NA19081.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.252-17008A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111572927 | |||||||
| chr12:111573042 | AT | A | 11 | a0001c0001t0002g0218 a0001c0001t0002g0238 a0001c0001t0002g0271 others(8): Show |
11 | HG01258.hp1 HG01258.hp2 HG01975.hp2 others(8): Show |
intron_variant | MODIFIER | c.252-17124delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573042 | |||||||
| chr12:111573046 | T | A | 210 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(207): Show |
210 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(207): Show |
intron_variant | MODIFIER | c.252-17127A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573046 | |||||||
| chr12:111573221 | C | T | 2 | a0001c0003t0001g0148 a0003c0005t0003g0127 |
2 | NA19081.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.252-17302G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573221 | |||||||
| chr12:111573223 | T | C | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.252-17304A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573223 | |||||||
| chr12:111573348 | C | G | 8 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0111 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.252-17429G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573348 | |||||||
| chr12:111573533 | A | G | 1 | a0004c0020t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.252-17614T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573533 | |||||||
| chr12:111573582 | C | G | 2 | a0002c0002t0001g0063 a0002c0002t0001g0086 |
2 | HG01928.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.252-17663G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573582 | |||||||
| chr12:111573870 | C | CT | 11 | a0001c0001t0004g0216 a0001c0001t0004g0226 a0001c0001t0004g0240 others(8): Show |
11 | HG01993.hp2 HG02055.hp1 HG02135.hp1 others(8): Show |
intron_variant | MODIFIER | c.252-17952dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573870 | |||||||
| chr12:111573870 | CT | C | 29 | a0001c0001t0002g0270 a0002c0002t0001g0081 a0003c0004t0003g0013 others(26): Show |
29 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(26): Show |
intron_variant | MODIFIER | c.252-17952delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573870 | |||||||
| chr12:111573986 | T | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-18067A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111573986 | |||||||
| chr12:111574200 | C | T | 1 | a0001c0010t0001g0203 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.252-18281G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574200 | |||||||
| chr12:111574263 | G | A | 1 | a0011c0013t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.252-18344C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574263 | |||||||
| chr12:111574308 | C | CA | 93 | a0001c0001t0001g0027 a0001c0001t0002g0225 a0001c0001t0002g0233 others(90): Show |
93 | HG00544.hp1 HG00597.hp1 HG00642.hp1 others(90): Show |
intron_variant | MODIFIER | c.252-18390dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574308 | |||||||
| chr12:111574308 | C | CAA | 16 | a0001c0001t0004g0216 a0001c0001t0004g0227 a0001c0001t0004g0246 others(13): Show |
16 | HG00544.hp2 HG02129.hp1 HG02132.hp2 others(13): Show |
intron_variant | MODIFIER | c.252-18391_252-1839 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574308 | |||||||
| chr12:111574308 | CA | C | 36 | a0001c0003t0001g0149 a0001c0003t0001g0170 a0001c0003t0001g0202 others(33): Show |
36 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.252-18390delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574308 | |||||||
| chr12:111574380 | T | C | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-18461A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574380 | |||||||
| chr12:111574467 | G | A | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.252-18548C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574467 | |||||||
| chr12:111574657 | A | G | 1 | a0007c0011t0001g0213 | 1 | NA18991.hp2 | intron_variant | MODIFIER | c.252-18738T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574657 | |||||||
| chr12:111574682 | C | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-18763G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111574682 | |||||||
| chr12:111575019 | G | A | 2 | a0001c0001t0002g0228 a0001c0001t0002g0248 |
2 | HG03710.hp2 HG03927.hp1 |
intron_variant | MODIFIER | c.252-19100C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575019 | |||||||
| chr12:111575036 | G | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-19117C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575036 | |||||||
| chr12:111575056 | G | C | 1 | a0011c0013t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.252-19137C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575056 | |||||||
| chr12:111575155 | G | T | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-19236C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575155 | |||||||
| chr12:111575195 | A | T | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-19276T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575195 | |||||||
| chr12:111575262 | T | C | 1 | a0001c0001t0004g0247 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.252-19343A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575262 | |||||||
| chr12:111575320 | G | A | 1 | a0003c0005t0001g0138 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.252-19401C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575320 | |||||||
| chr12:111575410 | C | T | 1 | a0003c0004t0005g0018 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.252-19491G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575410 | |||||||
| chr12:111575518 | T | A | 1 | a0001c0001t0002g0298 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.252-19599A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575518 | |||||||
| chr12:111575651 | G | A | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.252-19732C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575651 | |||||||
| chr12:111575711 | G | A | 1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.252-19792C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575711 | |||||||
| chr12:111575721 | T | G | 1 | a0001c0001t0002g0258 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.252-19802A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575721 | |||||||
| chr12:111575933 | T | C | 1 | a0001c0003t0001g0141 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.252-20014A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111575933 | |||||||
| chr12:111576085 | A | AATAAC | 15 | a0001c0003t0001g0139 a0001c0003t0001g0154 a0001c0003t0001g0156 others(12): Show |
15 | HG00408.hp2 HG02027.hp2 HG02074.hp2 others(12): Show |
intron_variant | MODIFIER | c.252-20171_252-2016 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | |||||||
| chr12:111576085 | A | AATAACAT others(3): Show |
4 | a0001c0003t0001g0153 a0001c0003t0001g0166 a0001c0003t0001g0194 others(1): Show |
4 | HG03041.hp2 HG04115.hp2 NA19066.hp2 others(1): Show |
intron_variant | MODIFIER | c.252-20176_252-2016 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | |||||||
| chr12:111576085 | A | AATAACAT others(8): Show |
2 | a0001c0001t0001g0028 a0001c0003t0001g0207 |
2 | HG02257.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.252-20181_252-2016 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | |||||||
| chr12:111576085 | AATAAC | A | 27 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0222 others(24): Show |
27 | HG01071.hp2 HG01081.hp2 HG01243.hp1 others(24): Show |
intron_variant | MODIFIER | c.252-20171_252-2016 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576085 | |||||||
| chr12:111576131 | AT | A | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.252-20213delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576131 | |||||||
| chr12:111576132 | T | TAACA | 11 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0024 others(8): Show |
11 | HG01243.hp2 HG01884.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.252-20217_252-2021 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | |||||||
| chr12:111576132 | T | TAACATAA others(2): Show |
4 | a0003c0004t0003g0013 a0003c0004t0003g0023 a0003c0004t0005g0007 others(1): Show |
4 | HG02559.hp1 HG02809.hp2 HG02976.hp1 others(1): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | |||||||
| chr12:111576132 | T | TAACATAA others(7): Show |
8 | a0003c0005t0003g0137 a0003c0006t0003g0111 a0003c0006t0003g0112 others(5): Show |
8 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | |||||||
| chr12:111576132 | T | TAACATAA others(12): Show |
7 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(4): Show |
7 | HG02055.hp1 HG02486.hp1 HG02486.hp2 others(4): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | |||||||
| chr12:111576132 | T | TAACATAA others(17): Show |
6 | a0003c0006t0003g0107 a0003c0006t0003g0109 a0003c0006t0003g0116 others(3): Show |
6 | HG02109.hp2 HG02572.hp1 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.252-20214_252-2021 others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | |||||||
| chr12:111576132 | T | TAACATAA others(22): Show |
1 | a0003c0006t0003g0110 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.252-20214_252-2021 others(33): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576132 | |||||||
| chr12:111576133 | A | C | 66 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 others(63): Show |
66 | HG00099.hp2 HG00408.hp1 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.252-20214T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576133 | |||||||
| chr12:111576137 | T | C | 66 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 others(63): Show |
66 | HG00099.hp2 HG00408.hp1 HG00642.hp1 others(63): Show |
intron_variant | MODIFIER | c.252-20218A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576137 | T | TAACATAA others(33): Show |
1 | a0002c0002t0001g0104 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.252-20219_252-2021 others(44): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576137 | T | TAACATAA others(28): Show |
1 | a0002c0002t0001g0048 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.252-20219_252-2021 others(39): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576137 | T | TAACATAA others(23): Show |
2 | a0002c0002t0001g0052 a0002c0002t0001g0089 |
2 | HG03239.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.252-20219_252-2021 others(34): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576137 | T | TAACATAA others(18): Show |
5 | a0002c0002t0001g0034 a0002c0002t0001g0044 a0002c0002t0001g0050 others(2): Show |
5 | HG02074.hp1 NA18948.hp2 NA18952.hp1 others(2): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576137 | T | TAACATAA others(13): Show |
44 | a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(41): Show |
44 | HG01071.hp1 HG01123.hp1 HG01256.hp1 others(41): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576137 | T | TAACATAA others(8): Show |
16 | a0001c0001t0004g0283 a0002c0002t0001g0033 a0002c0002t0001g0055 others(13): Show |
16 | HG00544.hp2 HG00597.hp1 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576137 | T | TAACATCA others(3): Show |
10 | a0001c0001t0002g0282 a0001c0001t0006g0267 a0001c0003t0003g0188 others(7): Show |
10 | HG01993.hp1 HG02040.hp1 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.252-20219_252-2021 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576137 | |||||||
| chr12:111576140 | C | A | 145 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 others(142): Show |
145 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(142): Show |
intron_variant | MODIFIER | c.252-20221G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576140 | |||||||
| chr12:111576140 | C | CACCAA | 22 | a0001c0001t0002g0217 a0001c0001t0002g0225 a0001c0001t0002g0233 others(19): Show |
22 | HG00544.hp1 HG01167.hp2 HG01169.hp1 others(19): Show |
intron_variant | MODIFIER | c.252-20226_252-2022 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576140 | |||||||
| chr12:111576247 | C | A | 71 | a0002c0002t0001g0026 a0002c0002t0001g0030 a0002c0002t0001g0031 others(68): Show |
71 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(68): Show |
intron_variant | MODIFIER | c.252-20328G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576247 | |||||||
| chr12:111576546 | C | T | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.252-20627G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576546 | |||||||
| chr12:111576697 | C | T | 87 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(84): Show |
87 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.252-20778G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576697 | |||||||
| chr12:111576778 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-20859G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576778 | |||||||
| chr12:111576831 | T | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-20912A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576831 | |||||||
| chr12:111576952 | C | T | 1 | a0001c0001t0002g0278 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.252-21033G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576952 | |||||||
| chr12:111576981 | C | T | 1 | a0001c0001t0002g0292 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.252-21062G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111576981 | |||||||
| chr12:111577038 | C | T | 1 | a0001c0001t0002g0254 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.252-21119G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577038 | |||||||
| chr12:111577256 | ATTAT | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.252-21341_252-2133 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577256 | |||||||
| chr12:111577262 | T | A | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.252-21343A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577262 | |||||||
| chr12:111577297 | G | A | 1 | a0003c0004t0005g0007 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.252-21378C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577297 | |||||||
| chr12:111577351 | C | T | 2 | a0001c0003t0001g0207 a0001c0003t0001g0208 |
2 | HG02257.hp2 HG03041.hp2 |
intron_variant | MODIFIER | c.252-21432G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577351 | |||||||
| chr12:111577403 | T | C | 3 | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 |
3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.251+21381A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577403 | |||||||
| chr12:111577427 | G | A | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+21357C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577427 | |||||||
| chr12:111577455 | C | T | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+21329G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577455 | |||||||
| chr12:111577517 | G | A | 1 | a0003c0006t0003g0108 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.251+21267C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577517 | |||||||
| chr12:111577703 | G | T | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.251+21081C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577703 | |||||||
| chr12:111577779 | T | C | 1 | a0005c0021t0001g0120 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.251+21005A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577779 | |||||||
| chr12:111577815 | C | G | 1 | a0001c0003t0001g0166 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.251+20969G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111577815 | |||||||
| chr12:111578020 | AC | A | 208 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(205): Show |
208 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(205): Show |
intron_variant | MODIFIER | c.251+20763delG | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578020 | |||||||
| chr12:111578165 | C | T | 1 | a0003c0004t0008g0215 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.251+20619G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578165 | |||||||
| chr12:111578180 | G | A | 3 | a0003c0004t0005g0006 a0003c0004t0005g0007 a0011c0013t0005g0004 |
3 | HG01884.hp1 HG02976.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.251+20604C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578180 | |||||||
| chr12:111578212 | A | C | 167 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(164): Show |
167 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(164): Show |
intron_variant | MODIFIER | c.251+20572T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578212 | |||||||
| chr12:111578395 | G | T | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.251+20389C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578395 | |||||||
| chr12:111578623 | A | T | 2 | a0001c0001t0002g0236 a0001c0001t0002g0237 |
2 | NA19004.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.251+20161T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578623 | |||||||
| chr12:111578720 | C | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.251+20064G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578720 | |||||||
| chr12:111578828 | C | A | 1 | a0001c0001t0002g0222 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.251+19956G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578828 | |||||||
| chr12:111578858 | T | C | 1 | a0011c0013t0005g0004 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.251+19926A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111578858 | |||||||
| chr12:111579238 | T | G | 1 | a0001c0003t0001g0143 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.251+19546A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579238 | |||||||
| chr12:111579285 | G | A | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.251+19499C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579285 | |||||||
| chr12:111579316 | G | A | 1 | a0003c0004t0005g0007 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.251+19468C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579316 | |||||||
| chr12:111579355 | C | T | 3 | a0003c0004t0003g0008 a0003c0004t0003g0010 a0003c0004t0003g0012 |
3 | HG03209.hp1 HG03453.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.251+19429G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579355 | |||||||
| chr12:111579378 | T | C | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.251+19406A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579378 | |||||||
| chr12:111579452 | G | T | 3 | a0003c0004t0003g0021 a0003c0005t0003g0137 a0006c0009t0003g0105 |
3 | HG01243.hp2 HG02630.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.251+19332C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579452 | |||||||
| chr12:111579699 | C | CT | 6 | a0001c0003t0001g0162 a0001c0003t0001g0181 a0002c0002t0001g0085 others(3): Show |
6 | HG02970.hp1 HG03195.hp1 NA18981.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+19084dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579699 | |||||||
| chr12:111579758 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+19026C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111579758 | |||||||
| chr12:111580014 | G | T | 1 | a0001c0001t0002g0224 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.251+18770C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580014 | |||||||
| chr12:111580098 | G | A | 1 | a0001c0001t0002g0269 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.251+18686C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580098 | |||||||
| chr12:111580674 | A | AG | 36 | a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0234 others(33): Show |
36 | HG00408.hp2 HG00642.hp1 HG01243.hp1 others(33): Show |
intron_variant | MODIFIER | c.251+18109dupC | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580674 | |||||||
| chr12:111580749 | A | G | 2 | a0001c0001t0002g0273 a0001c0001t0002g0291 |
2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.251+18035T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580749 | |||||||
| chr12:111580750 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+18034T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580750 | |||||||
| chr12:111580790 | G | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+17994C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580790 | |||||||
| chr12:111580849 | G | A | 1 | a0001c0001t0002g0266 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.251+17935C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580849 | |||||||
| chr12:111580853 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+17931T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111580853 | |||||||
| chr12:111581049 | T | C | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.251+17735A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581049 | |||||||
| chr12:111581128 | T | G | 1 | a0001c0001t0002g0268 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.251+17656A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581128 | |||||||
| chr12:111581135 | C | CA | 7 | a0001c0001t0002g0290 a0001c0003t0001g0146 a0001c0003t0003g0205 others(4): Show |
7 | HG02080.hp2 HG02129.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.251+17648dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581135 | |||||||
| chr12:111581135 | CA | C | 16 | a0001c0001t0002g0243 a0001c0001t0002g0259 a0001c0003t0001g0173 others(13): Show |
16 | HG01168.hp1 HG01884.hp2 HG01975.hp1 others(13): Show |
intron_variant | MODIFIER | c.251+17648delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581135 | |||||||
| chr12:111581135 | CAA | C | 40 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(37): Show |
40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.251+17647_251+1764 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581135 | |||||||
| chr12:111581307 | T | C | 2 | a0003c0006t0003g0112 a0003c0006t0003g0113 |
2 | HG01168.hp2 HG01169.hp2 |
intron_variant | MODIFIER | c.251+17477A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581307 | |||||||
| chr12:111581709 | T | C | 1 | a0001c0003t0001g0153 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.251+17075A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581709 | |||||||
| chr12:111581799 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+16985C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581799 | |||||||
| chr12:111581829 | A | T | 1 | a0002c0002t0001g0081 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.251+16955T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581829 | |||||||
| chr12:111581830 | T | C | 1 | a0001c0001t0002g0219 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.251+16954A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581830 | |||||||
| chr12:111581947 | TA | T | 7 | a0001c0001t0002g0233 a0001c0001t0002g0243 a0001c0001t0002g0286 others(4): Show |
7 | HG00544.hp1 HG01167.hp1 HG01168.hp1 others(4): Show |
intron_variant | MODIFIER | c.251+16836delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581947 | |||||||
| chr12:111581959 | A | C | 2 | a0002c0002t0001g0059 a0002c0002t0003g0054 |
2 | NA18991.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.251+16825T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581959 | |||||||
| chr12:111581978 | C | A | 1 | a0001c0003t0001g0145 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.251+16806G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581978 | |||||||
| chr12:111581995 | G | T | 87 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(84): Show |
87 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.251+16789C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111581995 | |||||||
| chr12:111582172 | T | C | 5 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(2): Show |
5 | HG02055.hp1 HG02486.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.251+16612A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582172 | |||||||
| chr12:111582191 | G | A | 1 | a0013c0025t0001g0124 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.251+16593C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582191 | |||||||
| chr12:111582351 | C | CAGA | 295 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(292): Show |
295 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(292): Show |
intron_variant | MODIFIER | c.251+16430_251+1643 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582351 | |||||||
| chr12:111582410 | G | C | 208 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(205): Show |
208 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(205): Show |
intron_variant | MODIFIER | c.251+16374C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582410 | |||||||
| chr12:111582441 | CA | C | 48 | a0001c0001t0002g0275 a0001c0003t0001g0212 a0002c0002t0001g0025 others(45): Show |
48 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(45): Show |
intron_variant | MODIFIER | c.251+16342delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582441 | |||||||
| chr12:111582705 | G | A | 14 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(11): Show |
14 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(11): Show |
intron_variant | MODIFIER | c.251+16079C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582705 | |||||||
| chr12:111582734 | T | A | 1 | a0003c0004t0003g0014 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.251+16050A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582734 | |||||||
| chr12:111582958 | G | A | 2 | a0001c0001t0002g0273 a0001c0001t0002g0291 |
2 | NA18979.hp1 NA19007.hp1 |
intron_variant | MODIFIER | c.251+15826C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582958 | |||||||
| chr12:111582962 | C | G | 3 | a0001c0003t0001g0149 a0001c0003t0001g0202 a0001c0010t0001g0168 |
3 | HG02071.hp1 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.251+15822G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582962 | |||||||
| chr12:111582977 | GT | G | 9 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(6): Show |
9 | HG01884.hp1 HG01884.hp2 HG02970.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+15806delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582977 | |||||||
| chr12:111582988 | T | G | 1 | a0003c0005t0003g0137 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.251+15796A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582988 | |||||||
| chr12:111582989 | G | T | 12 | a0001c0003t0001g0182 a0003c0004t0003g0014 a0003c0004t0003g0021 others(9): Show |
12 | HG01243.hp2 HG01943.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+15795C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582989 | |||||||
| chr12:111582993 | G | GT | 6 | a0001c0003t0001g0156 a0001c0003t0001g0172 a0001c0003t0001g0184 others(3): Show |
6 | HG02071.hp1 HG02074.hp2 HG02257.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+15790dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | |||||||
| chr12:111582993 | G | T | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+15791C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | |||||||
| chr12:111582993 | GT | G | 13 | a0001c0001t0002g0233 a0001c0001t0002g0241 a0001c0001t0002g0272 others(10): Show |
13 | HG00544.hp1 HG01433.hp2 HG02055.hp1 others(10): Show |
intron_variant | MODIFIER | c.251+15790delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | |||||||
| chr12:111582993 | GTT | G | 192 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(189): Show |
192 | HG00099.hp2 HG00408.hp1 HG00544.hp2 others(189): Show |
intron_variant | MODIFIER | c.251+15789_251+1579 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582993 | |||||||
| chr12:111582995 | T | G | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+15789A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582995 | |||||||
| chr12:111582997 | T | G | 1 | a0001c0003t0001g0147 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.251+15787A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582997 | |||||||
| chr12:111582999 | T | G | 1 | a0001c0001t0002g0268 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.251+15785A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111582999 | |||||||
| chr12:111583000 | T | G | 6 | a0003c0004t0003g0014 a0003c0004t0005g0020 a0004c0020t0003g0119 others(3): Show |
6 | HG01943.hp2 HG02257.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+15784A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583000 | |||||||
| chr12:111583010 | G | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15774C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583010 | |||||||
| chr12:111583014 | A | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15770T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583014 | |||||||
| chr12:111583016 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15768T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583016 | |||||||
| chr12:111583022 | T | C | 1 | a0002c0002t0001g0078 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.251+15762A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583022 | |||||||
| chr12:111583023 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15761G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583023 | |||||||
| chr12:111583025 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15759A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583025 | |||||||
| chr12:111583027 | C | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15757G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583027 | |||||||
| chr12:111583031 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15753G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583031 | |||||||
| chr12:111583049 | G | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15735C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583049 | |||||||
| chr12:111583053 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15731G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583053 | |||||||
| chr12:111583054 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15730T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583054 | |||||||
| chr12:111583056 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15728T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583056 | |||||||
| chr12:111583087 | G | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15697C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583087 | |||||||
| chr12:111583095 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15689G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583095 | |||||||
| chr12:111583101 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15683G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583101 | |||||||
| chr12:111583116 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15668A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583116 | |||||||
| chr12:111583117 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15667G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583117 | |||||||
| chr12:111583120 | G | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15664C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583120 | |||||||
| chr12:111583124 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15660G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583124 | |||||||
| chr12:111583130 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15654G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583130 | |||||||
| chr12:111583136 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15648T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583136 | |||||||
| chr12:111583137 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15647A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583137 | |||||||
| chr12:111583138 | G | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15646C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583138 | |||||||
| chr12:111583140 | G | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15644C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583140 | |||||||
| chr12:111583165 | T | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15619A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583165 | |||||||
| chr12:111583166 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15618G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583166 | |||||||
| chr12:111583167 | T | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15617A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583167 | |||||||
| chr12:111583168 | A | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15616T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583168 | |||||||
| chr12:111583181 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15603A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583181 | |||||||
| chr12:111583183 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15601T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583183 | |||||||
| chr12:111583190 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15594T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583190 | |||||||
| chr12:111583192 | A | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15592T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583192 | |||||||
| chr12:111583199 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15585G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583199 | |||||||
| chr12:111583200 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15584G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583200 | |||||||
| chr12:111583205 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15579A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583205 | |||||||
| chr12:111583212 | C | T | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15572G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583212 | |||||||
| chr12:111583215 | T | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15569A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583215 | |||||||
| chr12:111583230 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15554T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583230 | |||||||
| chr12:111583234 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15550T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583234 | |||||||
| chr12:111583238 | G | A | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15546C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583238 | |||||||
| chr12:111583242 | C | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15542G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583242 | |||||||
| chr12:111583243 | A | G | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15541T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583243 | |||||||
| chr12:111583253 | A | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+15531T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583253 | |||||||
| chr12:111583291 | A | G | 1 | a0003c0006t0003g0109 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.251+15493T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583291 | |||||||
| chr12:111583482 | A | G | 4 | a0003c0006t0003g0109 a0003c0006t0003g0110 a0003c0006t0003g0116 others(1): Show |
4 | HG02109.hp2 HG02818.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.251+15302T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583482 | |||||||
| chr12:111583494 | G | A | 1 | a0002c0002t0001g0058 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.251+15290C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583494 | |||||||
| chr12:111583521 | G | A | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.251+15263C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583521 | |||||||
| chr12:111583583 | T | C | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+15201A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583583 | |||||||
| chr12:111583761 | C | T | 9 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(6): Show |
9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+15023G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583761 | |||||||
| chr12:111583766 | C | CA | 145 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(142): Show |
145 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(142): Show |
intron_variant | MODIFIER | c.251+15017dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | |||||||
| chr12:111583766 | C | CAA | 37 | a0001c0001t0002g0224 a0001c0001t0002g0231 a0001c0001t0002g0251 others(34): Show |
37 | HG01071.hp1 HG01258.hp2 HG01361.hp1 others(34): Show |
intron_variant | MODIFIER | c.251+15016_251+1501 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | |||||||
| chr12:111583766 | CA | C | 30 | a0001c0003t0001g0158 a0001c0003t0001g0185 a0001c0003t0001g0206 others(27): Show |
30 | HG01167.hp1 HG01168.hp2 HG01169.hp2 others(27): Show |
intron_variant | MODIFIER | c.251+15017delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | |||||||
| chr12:111583766 | CAAAAAAA others(7): Show |
C | 2 | a0001c0003t0001g0149 a0001c0010t0001g0168 |
2 | HG02071.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.251+15004_251+1501 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583766 | |||||||
| chr12:111583916 | G | A | 3 | a0001c0003t0001g0149 a0001c0003t0001g0202 a0001c0010t0001g0168 |
3 | HG02071.hp1 NA18964.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.251+14868C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111583916 | |||||||
| chr12:111584031 | G | A | 1 | a0001c0001t0002g0242 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.251+14753C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584031 | |||||||
| chr12:111584085 | TA | T | 43 | a0001c0001t0002g0241 a0001c0003t0001g0186 a0003c0004t0003g0008 others(40): Show |
43 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(40): Show |
intron_variant | MODIFIER | c.251+14698delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584085 | |||||||
| chr12:111584145 | A | G | 295 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(292): Show |
295 | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(292): Show |
intron_variant | MODIFIER | c.251+14639T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584145 | |||||||
| chr12:111584345 | A | G | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+14439T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584345 | |||||||
| chr12:111584374 | T | A | 2 | a0002c0002t0001g0100 a0002c0002t0001g0101 |
2 | HG02559.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.251+14410A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584374 | |||||||
| chr12:111584377 | C | CA | 10 | a0001c0001t0001g0027 a0001c0001t0002g0243 a0001c0001t0002g0269 others(7): Show |
10 | HG00642.hp2 HG01071.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+14406dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | C | CAA | 16 | a0001c0001t0001g0028 a0001c0001t0002g0220 a0001c0001t0002g0221 others(13): Show |
16 | HG00408.hp1 HG01167.hp2 HG01433.hp2 others(13): Show |
intron_variant | MODIFIER | c.251+14405_251+1440 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | C | CAAA | 29 | a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0222 others(26): Show |
29 | HG00099.hp2 HG01081.hp2 HG01169.hp1 others(26): Show |
intron_variant | MODIFIER | c.251+14404_251+1440 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | C | CAAAA | 25 | a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0229 others(22): Show |
25 | HG01123.hp2 HG01928.hp2 HG01993.hp2 others(22): Show |
intron_variant | MODIFIER | c.251+14403_251+1440 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | C | CAAAAAAA others(4): Show |
2 | a0001c0001t0002g0287 a0001c0001t0006g0265 |
2 | HG02965.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.251+14396_251+1440 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | C | CAAAAAAA others(5): Show |
3 | a0001c0001t0006g0235 a0001c0001t0006g0267 a0001c0001t0006g0279 |
3 | HG03098.hp1 NA19030.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.251+14395_251+1440 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | C | CAAAAAAA others(7): Show |
1 | a0001c0001t0002g0266 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.251+14393_251+1440 others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | CA | C | 55 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(52): Show |
55 | HG00408.hp2 HG00597.hp2 HG01167.hp1 others(52): Show |
intron_variant | MODIFIER | c.251+14406delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | CAAAA | C | 16 | a0002c0002t0001g0034 a0002c0002t0001g0037 a0002c0002t0001g0058 others(13): Show |
16 | HG01243.hp2 HG02027.hp1 HG02055.hp2 others(13): Show |
intron_variant | MODIFIER | c.251+14403_251+1440 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | CAAAAA | C | 86 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(83): Show |
86 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(83): Show |
intron_variant | MODIFIER | c.251+14402_251+1440 others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | CAAAAAA | C | 10 | a0002c0002t0001g0035 a0002c0002t0001g0038 a0002c0002t0001g0055 others(7): Show |
10 | HG01975.hp1 HG02559.hp2 HG03540.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+14401_251+1440 others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | CAAAAAAA others(3): Show |
C | 5 | a0001c0001t0002g0254 a0001c0003t0001g0173 a0003c0005t0001g0129 others(2): Show |
5 | HG01243.hp1 HG02145.hp1 HG02683.hp1 others(2): Show |
intron_variant | MODIFIER | c.251+14397_251+1440 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | CAAAAAAA others(10): Show |
C | 6 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(3): Show |
6 | HG01884.hp1 HG02970.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+14390_251+1440 others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584377 | CAAAAAAA others(11): Show |
C | 1 | a0003c0004t0005g0007 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.251+14389_251+1440 others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584377 | |||||||
| chr12:111584548 | G | C | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+14236C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584548 | |||||||
| chr12:111584691 | C | T | 1 | a0002c0002t0001g0026 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.251+14093G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111584691 | |||||||
| chr12:111585137 | T | C | 1 | a0002c0002t0001g0085 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.251+13647A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585137 | |||||||
| chr12:111585197 | A | G | 208 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(205): Show |
208 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(205): Show |
intron_variant | MODIFIER | c.251+13587T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585197 | |||||||
| chr12:111585207 | A | G | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+13577T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585207 | |||||||
| chr12:111585263 | G | A | 62 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(59): Show |
62 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(59): Show |
intron_variant | MODIFIER | c.251+13521C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585263 | |||||||
| chr12:111585460 | C | T | 1 | a0001c0003t0003g0169 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.251+13324G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585460 | |||||||
| chr12:111585518 | A | G | 2 | a0001c0003t0001g0144 a0003c0005t0001g0126 |
2 | HG02818.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.251+13266T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585518 | |||||||
| chr12:111585603 | G | A | 2 | a0001c0003t0001g0170 a0001c0003t0001g0171 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.251+13181C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585603 | |||||||
| chr12:111585712 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+13072C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585712 | |||||||
| chr12:111585733 | C | T | 1 | a0001c0001t0002g0233 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.251+13051G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585733 | |||||||
| chr12:111585801 | C | CA | 93 | a0001c0001t0001g0028 a0001c0001t0002g0219 a0001c0001t0002g0221 others(90): Show |
93 | HG00408.hp2 HG00544.hp1 HG00642.hp1 others(90): Show |
intron_variant | MODIFIER | c.251+12982dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | |||||||
| chr12:111585801 | C | CAA | 39 | a0001c0001t0001g0027 a0001c0001t0002g0254 a0001c0001t0002g0273 others(36): Show |
39 | HG00597.hp2 HG01993.hp2 HG02027.hp2 others(36): Show |
intron_variant | MODIFIER | c.251+12981_251+1298 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | |||||||
| chr12:111585801 | CAAAAAAA others(3): Show |
C | 30 | a0001c0010t0001g0203 a0003c0004t0003g0008 a0003c0004t0003g0009 others(27): Show |
30 | HG01884.hp1 HG01943.hp2 HG02055.hp1 others(27): Show |
intron_variant | MODIFIER | c.251+12973_251+1298 others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | |||||||
| chr12:111585801 | CAAAAAAA others(4): Show |
C | 12 | a0003c0004t0003g0021 a0003c0006t0003g0107 a0003c0006t0003g0108 others(9): Show |
12 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+12972_251+1298 others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585801 | |||||||
| chr12:111585879 | G | A | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+12905C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585879 | |||||||
| chr12:111585956 | T | C | 3 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 |
3 | HG02970.hp1 HG03516.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.251+12828A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585956 | |||||||
| chr12:111585971 | A | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+12813T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111585971 | |||||||
| chr12:111586096 | G | A | 2 | a0001c0003t0001g0170 a0001c0003t0001g0171 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.251+12688C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586096 | |||||||
| chr12:111586219 | C | CT | 12 | a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0259 others(9): Show |
12 | HG00597.hp1 HG02148.hp1 HG03654.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+12564dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586219 | |||||||
| chr12:111586239 | CAG | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 |
3 | HG02622.hp2 HG02897.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.251+12543_251+1254 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586239 | |||||||
| chr12:111586367 | G | A | 80 | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0030 others(77): Show |
80 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(77): Show |
intron_variant | MODIFIER | c.251+12417C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586367 | |||||||
| chr12:111586388 | G | GT | 81 | a0001c0001t0001g0027 a0001c0001t0002g0218 a0001c0001t0002g0219 others(78): Show |
81 | HG00408.hp1 HG00642.hp2 HG01081.hp2 others(78): Show |
intron_variant | MODIFIER | c.251+12395dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586388 | |||||||
| chr12:111586388 | GT | G | 42 | a0001c0003t0001g0164 a0001c0003t0001g0166 a0001c0003t0001g0206 others(39): Show |
42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+12395delA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586388 | |||||||
| chr12:111586397 | T | G | 4 | a0003c0004t0005g0011 a0003c0006t0003g0108 a0003c0006t0003g0115 others(1): Show |
4 | HG02055.hp1 HG02055.hp2 HG03225.hp2 others(1): Show |
intron_variant | MODIFIER | c.251+12387A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586397 | |||||||
| chr12:111586398 | T | G | 37 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(34): Show |
37 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.251+12386A>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586398 | |||||||
| chr12:111586580 | G | T | 87 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(84): Show |
87 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(84): Show |
intron_variant | MODIFIER | c.251+12204C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586580 | |||||||
| chr12:111586677 | C | T | 1 | a0003c0004t0003g0013 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.251+12107G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586677 | |||||||
| chr12:111586689 | T | C | 1 | a0001c0001t0003g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.251+12095A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586689 | |||||||
| chr12:111586700 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+12084G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586700 | |||||||
| chr12:111586741 | G | A | 1 | a0001c0001t0002g0282 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.251+12043C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586741 | |||||||
| chr12:111586811 | G | A | 1 | a0001c0003t0001g0164 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.251+11973C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111586811 | |||||||
| chr12:111587073 | C | CA | 88 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(85): Show |
88 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(85): Show |
intron_variant | MODIFIER | c.251+11710dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587073 | |||||||
| chr12:111587073 | C | CAA | 7 | a0001c0001t0002g0228 a0001c0001t0002g0261 a0001c0001t0004g0283 others(4): Show |
7 | HG01167.hp1 HG03486.hp1 HG03579.hp1 others(4): Show |
intron_variant | MODIFIER | c.251+11709_251+1171 others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587073 | |||||||
| chr12:111587073 | CAAA | C | 40 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(37): Show |
40 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.251+11708_251+1171 others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587073 | |||||||
| chr12:111587083 | A | C | 1 | a0002c0002t0001g0025 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.251+11701T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587083 | |||||||
| chr12:111587160 | C | T | 1 | a0001c0001t0002g0263 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.251+11624G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587160 | |||||||
| chr12:111587224 | C | T | 2 | a0001c0001t0002g0280 a0001c0001t0002g0298 |
2 | HG02080.hp1 NA18955.hp1 |
intron_variant | MODIFIER | c.251+11560G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587224 | |||||||
| chr12:111587320 | T | C | 1 | a0001c0001t0006g0257 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.251+11464A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587320 | |||||||
| chr12:111587355 | C | T | 1 | a0002c0002t0001g0073 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.251+11429G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587355 | |||||||
| chr12:111587534 | T | C | 1 | a0003c0004t0005g0018 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.251+11250A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587534 | |||||||
| chr12:111587671 | T | A | 87 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0003g0029 others(84): Show |
87 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(84): Show |
intron_variant | MODIFIER | c.251+11113A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111587671 | |||||||
| chr12:111588090 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+10694C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588090 | |||||||
| chr12:111588094 | G | T | 1 | a0012c0014t0003g0005 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.251+10690C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588094 | |||||||
| chr12:111588112 | G | A | 1 | a0001c0001t0002g0224 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.251+10672C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588112 | |||||||
| chr12:111588188 | A | AAAAT | 84 | a0001c0001t0002g0225 a0001c0001t0002g0241 a0001c0001t0002g0281 others(81): Show |
84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.251+10592_251+1059 others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | |||||||
| chr12:111588188 | A | AAAATAAA others(1): Show |
15 | a0002c0002t0001g0033 a0002c0002t0001g0057 a0002c0002t0001g0094 others(12): Show |
15 | HG01433.hp1 HG01884.hp1 HG01943.hp2 others(12): Show |
intron_variant | MODIFIER | c.251+10588_251+1059 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | |||||||
| chr12:111588188 | A | AAAATAAA others(5): Show |
20 | a0003c0004t0003g0021 a0003c0004t0005g0020 a0003c0004t0008g0215 others(17): Show |
20 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(17): Show |
intron_variant | MODIFIER | c.251+10584_251+1059 others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | |||||||
| chr12:111588188 | A | AAAATAAA others(9): Show |
2 | a0003c0004t0003g0012 a0003c0006t0003g0107 |
2 | HG03453.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.251+10580_251+1059 others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | |||||||
| chr12:111588188 | AAAATAAA others(1): Show |
A | 21 | a0001c0001t0002g0222 a0001c0001t0004g0216 a0001c0001t0004g0226 others(18): Show |
21 | HG01993.hp2 HG02109.hp1 HG02135.hp1 others(18): Show |
intron_variant | MODIFIER | c.251+10588_251+1059 others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588188 | |||||||
| chr12:111588465 | T | C | 3 | a0001c0007t0007g0160 a0001c0007t0007g0161 a0001c0007t0007g0199 |
3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.251+10319A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588465 | |||||||
| chr12:111588579 | A | G | 208 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(205): Show |
208 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(205): Show |
intron_variant | MODIFIER | c.251+10205T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588579 | |||||||
| chr12:111588729 | T | C | 1 | a0001c0003t0001g0180 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.251+10055A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588729 | |||||||
| chr12:111588867 | C | T | 1 | a0001c0003t0001g0194 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.251+9917G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588867 | |||||||
| chr12:111588991 | C | CA | 10 | a0001c0001t0003g0029 a0001c0001t0006g0235 a0001c0001t0006g0265 others(7): Show |
10 | HG02145.hp1 HG02258.hp1 HG02897.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+9792dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAA | 10 | a0001c0001t0001g0028 a0001c0001t0002g0223 a0001c0001t0002g0238 others(7): Show |
10 | HG01123.hp2 HG01361.hp2 HG02523.hp2 others(7): Show |
intron_variant | MODIFIER | c.251+9791_251+9792d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAA | 28 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0224 others(25): Show |
28 | HG01071.hp2 HG01168.hp1 HG01256.hp2 others(25): Show |
intron_variant | MODIFIER | c.251+9790_251+9792d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAA | 24 | a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0225 others(21): Show |
24 | HG01081.hp2 HG01258.hp2 HG01361.hp1 others(21): Show |
intron_variant | MODIFIER | c.251+9789_251+9792d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAA | 16 | a0001c0001t0002g0233 a0001c0001t0002g0248 a0001c0001t0002g0258 others(13): Show |
16 | HG00544.hp1 HG01167.hp2 HG01169.hp1 others(13): Show |
intron_variant | MODIFIER | c.251+9788_251+9792d others(7): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(3): Show |
2 | a0001c0001t0002g0222 a0002c0002t0001g0089 |
2 | HG02735.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.251+9783_251+9792d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(4): Show |
1 | a0001c0001t0004g0239 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.251+9782_251+9792d others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(6): Show |
2 | a0002c0002t0001g0072 a0002c0002t0001g0098 |
2 | HG00544.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.251+9780_251+9792d others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(7): Show |
2 | a0002c0002t0001g0073 a0002c0002t0001g0082 |
2 | HG01123.hp1 NA18943.hp2 |
intron_variant | MODIFIER | c.251+9779_251+9792d others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(8): Show |
4 | a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0091 others(1): Show |
4 | HG02027.hp1 NA18981.hp1 NA18991.hp1 others(1): Show |
intron_variant | MODIFIER | c.251+9778_251+9792d others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(9): Show |
3 | a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0016t0001g0077 |
3 | NA18948.hp2 NA18964.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.251+9777_251+9792d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(10): Show |
2 | a0002c0002t0001g0074 a0002c0002t0001g0084 |
2 | HG02273.hp1 NA18945.hp2 |
intron_variant | MODIFIER | c.251+9776_251+9792d others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(11): Show |
2 | a0002c0002t0001g0075 a0002c0002t0001g0076 |
2 | HG02129.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.251+9775_251+9792d others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(12): Show |
2 | a0002c0002t0001g0030 a0002c0002t0001g0085 |
2 | NA18951.hp2 NA19057.hp2 |
intron_variant | MODIFIER | c.251+9774_251+9792d others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(13): Show |
5 | a0002c0002t0001g0035 a0002c0002t0001g0040 a0002c0002t0001g0041 others(2): Show |
5 | NA18946.hp1 NA18968.hp1 NA18994.hp2 others(2): Show |
intron_variant | MODIFIER | c.251+9773_251+9792d others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(14): Show |
11 | a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0036 others(8): Show |
11 | HG02132.hp2 NA18952.hp1 NA18974.hp2 others(8): Show |
intron_variant | MODIFIER | c.251+9772_251+9792d others(23): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(15): Show |
1 | a0002c0002t0001g0047 | 1 | NA18986.hp1 | intron_variant | MODIFIER | c.251+9771_251+9792d others(24): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(16): Show |
2 | a0002c0002t0001g0037 a0002c0002t0001g0093 |
2 | NA18959.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.251+9770_251+9792d others(25): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(18): Show |
1 | a0002c0002t0001g0038 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.251+9768_251+9792d others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(19): Show |
2 | a0002c0002t0001g0051 a0002c0002t0001g0102 |
2 | NA18984.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.251+9767_251+9792d others(28): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(20): Show |
2 | a0002c0002t0001g0032 a0002c0002t0001g0094 |
2 | NA18955.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.251+9766_251+9792d others(29): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | C | CAAAAAAA others(23): Show |
1 | a0002c0002t0001g0081 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.251+9763_251+9792d others(32): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CA | C | 37 | a0001c0003t0001g0139 a0001c0003t0001g0140 a0001c0003t0001g0141 others(34): Show |
37 | HG00408.hp2 HG00597.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.251+9792delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAA | C | 19 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0158 others(16): Show |
19 | HG01167.hp1 HG01256.hp1 HG01258.hp1 others(16): Show |
intron_variant | MODIFIER | c.251+9791_251+9792d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAAA | C | 13 | a0001c0001t0002g0220 a0001c0003t0001g0157 a0001c0003t0001g0163 others(10): Show |
13 | HG00408.hp1 HG01081.hp1 HG02109.hp1 others(10): Show |
intron_variant | MODIFIER | c.251+9790_251+9792d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAAAAAAA | C | 8 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(5): Show |
8 | HG01884.hp2 HG02145.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.251+9786_251+9792d others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAAAAAAA others(4): Show |
C | 2 | a0001c0001t0004g0245 a0002c0002t0001g0052 |
2 | HG03239.hp1 NA18943.hp1 |
intron_variant | MODIFIER | c.251+9782_251+9792d others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAAAAAAA others(5): Show |
C | 4 | a0001c0001t0002g0250 a0003c0004t0003g0021 a0003c0004t0005g0006 others(1): Show |
4 | HG00099.hp2 HG01243.hp2 HG01884.hp1 others(1): Show |
intron_variant | MODIFIER | c.251+9781_251+9792d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAAAAAAA others(6): Show |
C | 38 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(35): Show |
38 | HG01168.hp2 HG01169.hp2 HG01943.hp2 others(35): Show |
intron_variant | MODIFIER | c.251+9780_251+9792d others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAAAAAAA others(7): Show |
C | 1 | a0002c0002t0003g0095 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.251+9779_251+9792d others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111588991 | CAAAAAAA others(9): Show |
C | 1 | a0001c0001t0002g0275 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.251+9777_251+9792d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111588991 | |||||||
| chr12:111589018 | A | C | 1 | a0001c0003t0001g0162 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.251+9766T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589018 | |||||||
| chr12:111589025 | C | A | 1 | a0002c0016t0001g0077 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.251+9759G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589025 | |||||||
| chr12:111589026 | T | A | 1 | a0002c0016t0001g0077 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.251+9758A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589026 | |||||||
| chr12:111589030 | C | A | 1 | a0001c0001t0002g0220 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.251+9754G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589030 | |||||||
| chr12:111589192 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+9592C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589192 | |||||||
| chr12:111589210 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+9574C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589210 | |||||||
| chr12:111589263 | C | T | 3 | a0001c0001t0002g0262 a0001c0001t0002g0284 a0001c0001t0002g0285 |
3 | HG01167.hp2 HG01169.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.251+9521G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589263 | |||||||
| chr12:111589299 | G | A | 1 | a0002c0002t0001g0082 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.251+9485C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589299 | |||||||
| chr12:111589591 | A | G | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9193T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589591 | |||||||
| chr12:111589593 | A | G | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9191T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589593 | |||||||
| chr12:111589609 | C | A | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9175G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589609 | |||||||
| chr12:111589612 | T | A | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9172A>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589612 | |||||||
| chr12:111589625 | A | T | 1 | a0003c0004t0003g0024 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.251+9159T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589625 | |||||||
| chr12:111589649 | A | ATAATCCC others(435): Show |
38 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(35): Show |
38 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(35): Show |
intron_variant | MODIFIER | c.251+8693_251+9134d others(444): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589649 | |||||||
| chr12:111589953 | T | C | 1 | a0001c0003t0001g0211 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.251+8831A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589953 | |||||||
| chr12:111589964 | C | T | 3 | a0002c0002t0001g0062 a0002c0002t0001g0079 a0002c0002t0001g0093 |
3 | NA18959.hp1 NA18974.hp2 NA18989.hp1 |
intron_variant | MODIFIER | c.251+8820G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589964 | |||||||
| chr12:111589984 | C | T | 1 | a0001c0001t0002g0237 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.251+8800G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111589984 | |||||||
| chr12:111590069 | C | G | 1 | a0001c0003t0001g0162 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.251+8715G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590069 | |||||||
| chr12:111590301 | G | T | 1 | a0001c0001t0002g0230 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.251+8483C>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590301 | |||||||
| chr12:111590688 | A | AAAAAAAA others(5): Show |
41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+8095_251+8096i others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590688 | |||||||
| chr12:111590826 | A | T | 3 | a0001c0007t0007g0160 a0001c0007t0007g0161 a0001c0007t0007g0199 |
3 | NA18971.hp2 NA18980.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.251+7958T>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111590826 | |||||||
| chr12:111591104 | T | C | 12 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0024 others(9): Show |
12 | HG01243.hp2 HG01943.hp2 HG02257.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+7680A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591104 | |||||||
| chr12:111591123 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+7661A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591123 | |||||||
| chr12:111591258 | C | T | 1 | a0002c0002t0001g0101 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.251+7526G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591258 | |||||||
| chr12:111591364 | T | TTAAAAA | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+7414_251+7419d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591364 | |||||||
| chr12:111591456 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+7328C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591456 | |||||||
| chr12:111591487 | T | C | 82 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(79): Show |
82 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(79): Show |
intron_variant | MODIFIER | c.251+7297A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591487 | |||||||
| chr12:111591756 | T | TTTG | 84 | a0001c0001t0002g0238 a0001c0003t0001g0181 a0001c0003t0001g0185 others(81): Show |
84 | HG00544.hp2 HG00597.hp1 HG01071.hp1 others(81): Show |
intron_variant | MODIFIER | c.251+7025_251+7027d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591756 | |||||||
| chr12:111591775 | T | C | 1 | a0001c0001t0006g0279 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.251+7009A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591775 | |||||||
| chr12:111591810 | G | A | 5 | a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 others(2): Show |
5 | NA18959.hp2 NA18984.hp1 NA18986.hp2 others(2): Show |
intron_variant | MODIFIER | c.251+6974C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591810 | |||||||
| chr12:111591844 | G | C | 1 | a0003c0004t0003g0012 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.251+6940C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111591844 | |||||||
| chr12:111592077 | C | CA | 42 | a0001c0001t0002g0243 a0001c0001t0004g0283 a0001c0003t0001g0212 others(39): Show |
42 | HG01168.hp1 HG01168.hp2 HG01169.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+6706dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592077 | |||||||
| chr12:111592077 | C | CAA | 6 | a0003c0004t0005g0006 a0003c0004t0005g0007 a0003c0006t0003g0115 others(3): Show |
6 | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+6705_251+6706d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592077 | |||||||
| chr12:111592112 | G | C | 2 | a0002c0002t0001g0083 a0002c0002t0001g0088 |
2 | NA18948.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.251+6672C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592112 | |||||||
| chr12:111592429 | T | C | 1 | a0001c0003t0001g0182 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.251+6355A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592429 | |||||||
| chr12:111592599 | A | G | 1 | a0003c0004t0003g0014 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.251+6185T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592599 | |||||||
| chr12:111592641 | G | C | 1 | a0001c0001t0002g0241 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.251+6143C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592641 | |||||||
| chr12:111592702 | G | A | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.251+6082C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592702 | |||||||
| chr12:111592722 | G | A | 1 | a0002c0002t0001g0101 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.251+6062C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592722 | |||||||
| chr12:111592741 | C | T | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+6043G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592741 | |||||||
| chr12:111592742 | C | T | 12 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(9): Show |
12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+6042G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592742 | |||||||
| chr12:111592758 | G | C | 1 | a0002c0002t0001g0078 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.251+6026C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592758 | |||||||
| chr12:111592782 | C | CA | 9 | a0001c0003t0001g0143 a0001c0003t0001g0153 a0001c0003t0001g0154 others(6): Show |
9 | HG00597.hp2 HG02027.hp2 HG02738.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+6001dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAA | 10 | a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0240 others(7): Show |
10 | HG01993.hp2 HG03492.hp1 HG03710.hp1 others(7): Show |
intron_variant | MODIFIER | c.251+5999_251+6001d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA | 12 | a0001c0001t0002g0228 a0001c0001t0002g0248 a0001c0003t0001g0198 others(9): Show |
12 | HG00597.hp1 HG02132.hp2 HG02155.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+5995_251+6001d others(9): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(1): Show |
43 | a0001c0003t0001g0186 a0002c0002t0001g0031 a0002c0002t0001g0032 others(40): Show |
43 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(40): Show |
intron_variant | MODIFIER | c.251+5994_251+6001d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(2): Show |
13 | a0002c0002t0001g0033 a0002c0002t0001g0048 a0002c0002t0001g0049 others(10): Show |
13 | HG01433.hp1 HG01952.hp1 HG02074.hp1 others(10): Show |
intron_variant | MODIFIER | c.251+5993_251+6001d others(11): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(3): Show |
22 | a0002c0002t0001g0083 a0002c0002t0001g0088 a0002c0002t0001g0094 others(19): Show |
22 | HG01168.hp2 HG01169.hp2 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.251+5992_251+6001d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(4): Show |
13 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(10): Show |
13 | HG01258.hp2 HG01943.hp2 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.251+5991_251+6001d others(13): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(5): Show |
6 | a0003c0004t0003g0012 a0003c0004t0003g0021 a0003c0004t0005g0011 others(3): Show |
6 | HG01243.hp2 HG02055.hp1 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+5990_251+6001d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(6): Show |
1 | a0004c0020t0003g0119 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.251+5989_251+6001d others(15): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(7): Show |
2 | a0001c0001t0002g0229 a0003c0004t0003g0013 |
2 | HG02559.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.251+5988_251+6001d others(16): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(8): Show |
1 | a0001c0001t0002g0249 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.251+5987_251+6001d others(17): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(9): Show |
27 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(24): Show |
27 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(24): Show |
intron_variant | MODIFIER | c.251+5986_251+6001d others(18): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(10): Show |
23 | a0001c0001t0002g0221 a0001c0001t0002g0234 a0001c0001t0002g0236 others(20): Show |
23 | HG00642.hp1 HG01071.hp2 HG01123.hp2 others(20): Show |
intron_variant | MODIFIER | c.251+5985_251+6001d others(19): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(11): Show |
8 | a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0278 others(5): Show |
8 | HG01884.hp2 HG02056.hp1 HG02148.hp2 others(5): Show |
intron_variant | MODIFIER | c.251+5984_251+6001d others(20): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(12): Show |
3 | a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0287 |
3 | HG02080.hp1 NA19056.hp1 NA19080.hp1 |
intron_variant | MODIFIER | c.251+5983_251+6001d others(21): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(13): Show |
1 | a0001c0001t0002g0288 | 1 | NA19079.hp2 | intron_variant | MODIFIER | c.251+5982_251+6001d others(22): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(18): Show |
1 | a0001c0001t0002g0281 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.251+6001_251+6002i others(27): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(21): Show |
2 | a0001c0001t0002g0241 a0001c0001t0002g0282 |
2 | HG03041.hp1 NA18941.hp2 |
intron_variant | MODIFIER | c.251+6001_251+6002i others(30): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | C | CAAAAAAA others(32): Show |
1 | a0001c0001t0002g0289 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.251+6001_251+6002i others(41): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592782 | CAAAAAAA others(1): Show |
C | 6 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(3): Show |
6 | HG02145.hp2 HG02451.hp1 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.251+5994_251+6001d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592782 | |||||||
| chr12:111592844 | G | A | 42 | a0001c0001t0004g0216 a0003c0004t0003g0008 a0003c0004t0003g0009 others(39): Show |
42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+5940C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592844 | |||||||
| chr12:111592874 | TA | T | 42 | a0002c0002t0001g0050 a0003c0004t0003g0008 a0003c0004t0003g0009 others(39): Show |
42 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(39): Show |
intron_variant | MODIFIER | c.251+5909delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592874 | |||||||
| chr12:111592914 | CACA | C | 9 | a0002c0002t0001g0025 a0002c0002t0001g0096 a0002c0002t0001g0099 others(6): Show |
9 | HG01884.hp2 HG02145.hp2 HG02451.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+5867_251+5869d others(5): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111592914 | |||||||
| chr12:111593169 | G | A | 2 | a0004c0008t0001g0001 a0004c0008t0001g0002 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.251+5615C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593169 | |||||||
| chr12:111593307 | C | G | 1 | a0001c0003t0001g0159 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.251+5477G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593307 | |||||||
| chr12:111593610 | TA | T | 47 | a0001c0001t0002g0243 a0001c0003t0001g0157 a0001c0003t0001g0158 others(44): Show |
47 | HG01167.hp1 HG01168.hp1 HG01168.hp2 others(44): Show |
intron_variant | MODIFIER | c.251+5173delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593610 | |||||||
| chr12:111593618 | A | G | 26 | a0003c0004t0003g0014 a0003c0004t0003g0021 a0003c0004t0003g0022 others(23): Show |
26 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(23): Show |
intron_variant | MODIFIER | c.251+5166T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593618 | |||||||
| chr12:111593724 | G | A | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+5060C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593724 | |||||||
| chr12:111593914 | G | A | 2 | a0007c0011t0001g0213 a0007c0011t0001g0214 |
2 | NA18942.hp1 NA18991.hp2 |
intron_variant | MODIFIER | c.251+4870C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111593914 | |||||||
| chr12:111594005 | C | T | 1 | a0002c0002t0001g0086 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.251+4779G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594005 | |||||||
| chr12:111594134 | C | T | 1 | a0001c0001t0002g0242 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.251+4650G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594134 | |||||||
| chr12:111594161 | C | A | 1 | a0001c0001t0004g0283 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.251+4623G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594161 | |||||||
| chr12:111594342 | A | AT | 16 | a0001c0001t0002g0290 a0003c0004t0003g0008 a0003c0004t0003g0009 others(13): Show |
16 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(13): Show |
intron_variant | MODIFIER | c.251+4441dupA | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594342 | |||||||
| chr12:111594766 | T | C | 2 | a0001c0001t0002g0284 a0001c0001t0002g0285 |
2 | HG01167.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.251+4018A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111594766 | |||||||
| chr12:111595056 | C | A | 1 | a0001c0003t0003g0155 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.251+3728G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595056 | |||||||
| chr12:111595106 | C | G | 1 | a0002c0002t0001g0058 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.251+3678G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595106 | |||||||
| chr12:111595188 | C | A | 1 | a0002c0002t0001g0084 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.251+3596G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595188 | |||||||
| chr12:111595248 | A | G | 1 | a0003c0004t0003g0022 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.251+3536T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595248 | |||||||
| chr12:111595413 | G | A | 2 | a0002c0002t0001g0050 a0002c0002t0001g0051 |
2 | NA18994.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.251+3371C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595413 | |||||||
| chr12:111595520 | T | C | 4 | a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 others(1): Show |
4 | NA18948.hp1 NA19056.hp1 NA19079.hp2 others(1): Show |
intron_variant | MODIFIER | c.251+3264A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595520 | |||||||
| chr12:111595640 | C | CA | 79 | a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0290 others(76): Show |
79 | HG00544.hp2 HG01071.hp1 HG01123.hp1 others(76): Show |
intron_variant | MODIFIER | c.251+3143dupT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595640 | |||||||
| chr12:111595640 | CA | C | 6 | a0001c0001t0002g0222 a0001c0001t0002g0241 a0001c0001t0004g0239 others(3): Show |
6 | HG01993.hp2 HG02735.hp1 HG02735.hp2 others(3): Show |
intron_variant | MODIFIER | c.251+3143delT | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595640 | |||||||
| chr12:111595730 | A | G | 1 | a0001c0001t0004g0294 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.251+3054T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595730 | |||||||
| chr12:111595797 | TGCCTGTA others(131): Show |
T | 12 | a0003c0006t0003g0107 a0003c0006t0003g0108 a0003c0006t0003g0109 others(9): Show |
12 | HG01168.hp2 HG01169.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.251+2849_251+2986d others(2): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595797 | |||||||
| chr12:111595996 | G | A | 1 | a0001c0001t0003g0029 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.251+2788C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111595996 | |||||||
| chr12:111596023 | T | C | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+2761A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596023 | |||||||
| chr12:111596205 | A | AAC | 17 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0217 others(14): Show |
17 | HG00408.hp1 HG01496.hp1 HG02027.hp2 others(14): Show |
intron_variant | MODIFIER | c.251+2577_251+2578d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | A | AACAC | 45 | a0001c0003t0001g0157 a0001c0003t0001g0158 a0001c0003t0001g0159 others(42): Show |
45 | HG00099.hp1 HG01081.hp1 HG01167.hp1 others(42): Show |
intron_variant | MODIFIER | c.251+2575_251+2578d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | A | AACACAC | 49 | a0001c0003t0001g0144 a0001c0003t0001g0145 a0001c0003t0001g0146 others(46): Show |
49 | HG00544.hp2 HG00597.hp1 HG01123.hp1 others(46): Show |
intron_variant | MODIFIER | c.251+2573_251+2578d others(8): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | A | AACACACA others(1): Show |
9 | a0001c0003t0001g0140 a0001c0003t0001g0141 a0001c0003t0001g0142 others(6): Show |
9 | HG01071.hp1 HG01975.hp1 HG02132.hp1 others(6): Show |
intron_variant | MODIFIER | c.251+2571_251+2578d others(10): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | A | AACACACA others(3): Show |
20 | a0001c0003t0001g0139 a0002c0002t0001g0034 a0002c0002t0001g0035 others(17): Show |
20 | HG02132.hp2 HG02155.hp2 NA18941.hp1 others(17): Show |
intron_variant | MODIFIER | c.251+2569_251+2578d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | A | AACACACA others(5): Show |
4 | a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 others(1): Show |
4 | HG01433.hp1 NA18951.hp2 NA18955.hp2 others(1): Show |
intron_variant | MODIFIER | c.251+2567_251+2578d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | AAC | A | 73 | a0001c0001t0002g0219 a0001c0001t0002g0241 a0001c0001t0002g0242 others(70): Show |
73 | HG00099.hp2 HG00642.hp1 HG01071.hp2 others(70): Show |
intron_variant | MODIFIER | c.251+2577_251+2578d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | AACACACA others(3): Show |
A | 12 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(9): Show |
12 | HG01884.hp1 HG02055.hp1 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.251+2569_251+2578d others(12): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596205 | AACACACA others(5): Show |
A | 28 | a0003c0004t0003g0015 a0003c0004t0003g0016 a0003c0004t0003g0017 others(25): Show |
28 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(25): Show |
intron_variant | MODIFIER | c.251+2567_251+2578d others(14): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596205 | |||||||
| chr12:111596373 | T | TCA | 162 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 others(159): Show |
162 | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(159): Show |
intron_variant | MODIFIER | c.251+2409_251+2410d others(4): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596373 | |||||||
| chr12:111596373 | T | TCACA | 46 | a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 others(43): Show |
46 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(43): Show |
intron_variant | MODIFIER | c.251+2407_251+2410d others(6): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596373 | |||||||
| chr12:111596671 | C | T | 3 | a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 |
3 | HG01081.hp2 HG01496.hp1 HG01975.hp2 |
intron_variant | MODIFIER | c.251+2113G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596671 | |||||||
| chr12:111596766 | C | G | 1 | a0002c0002t0001g0026 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.251+2018G>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596766 | |||||||
| chr12:111596904 | C | A | 1 | a0001c0001t0002g0298 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.251+1880G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596904 | |||||||
| chr12:111596942 | T | C | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.251+1842A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596942 | |||||||
| chr12:111596949 | T | TG | 41 | a0003c0004t0003g0008 a0003c0004t0003g0009 a0003c0004t0003g0010 others(38): Show |
41 | HG01168.hp2 HG01169.hp2 HG01243.hp2 others(38): Show |
intron_variant | MODIFIER | c.251+1834_251+1835i others(3): Show |
ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111596949 | |||||||
| chr12:111597025 | A | C | 1 | a0003c0004t0005g0006 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.251+1759T>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597025 | |||||||
| chr12:111597121 | T | C | 1 | a0003c0012t0003g0003 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.251+1663A>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597121 | |||||||
| chr12:111597766 | C | T | 1 | a0001c0001t0004g0216 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.251+1018G>A | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597766 | |||||||
| chr12:111597775 | G | A | 2 | a0003c0004t0003g0022 a0003c0004t0003g0023 |
2 | HG02486.hp2 HG02809.hp2 |
intron_variant | MODIFIER | c.251+1009C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597775 | |||||||
| chr12:111597992 | G | A | 1 | a0001c0003t0001g0212 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.251+792C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111597992 | |||||||
| chr12:111598088 | C | A | 1 | a0002c0017t0001g0103 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.251+696G>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598088 | |||||||
| chr12:111598184 | A | G | 1 | a0002c0002t0001g0025 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.251+600T>C | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598184 | |||||||
| chr12:111598438 | G | A | 2 | a0003c0004t0003g0024 a0003c0012t0003g0003 |
2 | HG02280.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.251+346C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598438 | |||||||
| chr12:111598444 | G | A | 1 | a0003c0005t0001g0138 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.251+340C>T | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598444 | |||||||
| chr12:111598732 | G | C | 1 | a0002c0002t0001g0104 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.251+52C>G | ATXN2 | ENSG00000204842.18 | transcript | ENST00000673436.1 | protein_coding | 1/24 | chr12 | 111598732 |