Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 79595 |
| ensemblid | ENSG00000136715.19 |
| hgncid | 29813 |
| symbol | SAP130 |
| name | Sin3A associated protein 130 |
| refseq_nuc | NM_001330301.2 |
| refseq_prot | NP_001317230.1 |
| ensembl_nuc | ENST00000643581.2 |
| ensembl_prot | ENSP00000494423.1 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 127941222 |
| end | 128028059 |
| strand | - |
| ver | v1.2 |
| region | chr2:127941222-128028059 |
| region5000 | chr2:127936222-128033059 |
| regionname0 | SAP130_chr2_127941222_128028059 |
| regionname5000 | SAP130_chr2_127936222_128033059 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 1057 | 349 | 92 | 60 | 149 | 8 | 38 | 115 | SAP130_chr2_127936222_128033059 | SAP130 | MSSQQ others(1052): Show |
chr2 | 127936222 | 128033059 |
| a0002 | 0/0 | 1057 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | MSSQQ others(1052): Show |
chr2 | 127936222 | 128033059 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 3171 | 248 | 73 | 43 | 101 | 6 | 23 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0002 | 0/0 | 3171 | 44 | 0 | 9 | 21 | 1 | 13 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0003 | 0/0 | 3171 | 31 | 5 | 1 | 24 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0004 | 0/0 | 3171 | 10 | 9 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0005 | 0/0 | 3171 | 5 | 0 | 5 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0006 | 0/0 | 3171 | 2 | 2 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0007 | 0/0 | 3171 | 2 | 1 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0008 | 0/0 | 3171 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0009 | 0/0 | 3171 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0010 | 0/0 | 3171 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0011 | 0/0 | 3171 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0012 | 0/0 | 3171 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0013 | 0/0 | 3171 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0001c0015 | 0/0 | 3171 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 | ||
| a0002c0014 | 0/0 | 3171 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | ATGAG others(3166): Show |
chr2 | 127936222 | 128033059 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/1 | 4084 | 234 | 66 | 42 | 96 | 6 | 22 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0001t0002 | 0/0 | 4084 | 4 | 4 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0001t0003 | 0/0 | 4084 | 4 | 0 | 0 | 4 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0001t0004 | 0/0 | 4084 | 3 | 2 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0001t0009 | 0/0 | 4084 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0001t0010 | 0/0 | 4084 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0001t0014 | 0/0 | 4084 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0002t0001 | 0/0 | 4084 | 43 | 0 | 9 | 21 | 1 | 12 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0002t0012 | 0/0 | 4084 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0003t0001 | 0/0 | 4084 | 28 | 3 | 1 | 23 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0003t0007 | 0/0 | 4084 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0003t0008 | 0/0 | 4084 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0003t0011 | 0/0 | 4084 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0004t0001 | 0/0 | 4084 | 10 | 9 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0005t0001 | 0/0 | 4084 | 4 | 0 | 4 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0005t0006 | 0/0 | 4084 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0006t0001 | 0/0 | 4084 | 2 | 2 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0007t0005 | 0/0 | 4084 | 2 | 1 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0008t0001 | 0/0 | 4084 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0009t0001 | 0/0 | 4084 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0010t0001 | 0/0 | 4084 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0011t0013 | 0/0 | 4084 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0012t0001 | 0/0 | 4084 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0013t0001 | 0/0 | 4084 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0001c0015t0001 | 0/0 | 4084 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| a0002c0014t0001 | 0/0 | 4084 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | AGAGT others(4079): Show |
chr2 | 127936222 | 128033059 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0077 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0166 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0225 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0234 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0245 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0248 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0255 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0261 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0262 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0274 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0277 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0278 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0279 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0285 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0288 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0295 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0308 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0312 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0314 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0321 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0322 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0323 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0328 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0329 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0330 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0332 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0333 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0334 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0335 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0336 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0337 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0338 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0001g0339 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0002g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0002g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0002g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0003g0340 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0003g0341 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0003g0342 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0003g0343 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0004g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0004g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0004g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0009g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0010g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0001t0014g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0020 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0025 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0026 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0029 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0032 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0037 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0057 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0002t0012g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0007g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0008g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0003t0011g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0004t0001g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0005t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0005t0001g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0005t0001g0298 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0005t0001g0304 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0005t0006g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0006t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0006t0001g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0007t0005g0310 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0007t0005g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0008t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0009t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0010t0001g0324 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0011t0013g0325 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0012t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0013t0001g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0001c0015t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| a0002c0014t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00140 | hp1 | a0001 | c0002 | t0001 | g0025 | EUR | GBR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0248 | EUR | GBR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0141 | EUR | FIN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0228 | EUR | FIN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00323 | hp1 | a0001 | c0010 | t0001 | g0324 | EUR | FIN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0081 | EUR | FIN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00408 | hp1 | a0001 | c0011 | t0013 | g0325 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0203 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00423 | hp1 | a0001 | c0003 | t0001 | g0126 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0301 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00438 | hp1 | a0001 | c0003 | t0001 | g0116 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0261 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0297 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00544 | hp2 | a0001 | c0002 | t0001 | g0045 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0198 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00558 | hp2 | a0001 | c0003 | t0001 | g0127 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00639 | hp1 | a0001 | c0002 | t0001 | g0024 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0167 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0242 | EAS | CHS | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0321 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00735 | hp2 | a0001 | c0005 | t0001 | g0269 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0265 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0217 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0176 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01070 | hp1 | a0001 | c0001 | t0001 | g0158 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0017 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01074 | hp1 | a0001 | c0002 | t0001 | g0021 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0277 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01099 | hp2 | a0001 | c0002 | t0001 | g0057 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0220 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0263 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01109 | hp1 | a0001 | c0002 | t0001 | g0066 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0264 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0068 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0240 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01175 | hp1 | a0001 | c0007 | t0005 | g0310 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0285 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01192 | hp2 | a0001 | c0001 | t0001 | g0082 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01243 | hp1 | a0001 | c0001 | t0004 | g0062 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0175 | AMR | PUR | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0236 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01257 | hp2 | a0001 | c0001 | t0001 | g0162 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0161 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0255 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0165 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0084 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0241 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01358 | hp2 | a0001 | c0002 | t0001 | g0050 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01496 | hp1 | a0001 | c0005 | t0001 | g0254 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0171 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0320 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01891 | hp1 | a0001 | c0004 | t0001 | g0091 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01928 | hp1 | a0001 | c0003 | t0001 | g0119 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01928 | hp2 | a0001 | c0005 | t0001 | g0304 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01934 | hp2 | a0001 | c0002 | t0001 | g0053 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01952 | hp1 | a0001 | c0002 | t0001 | g0052 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01952 | hp2 | a0001 | c0001 | t0001 | g0259 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0278 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01975 | hp2 | a0001 | c0002 | t0001 | g0034 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0148 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01978 | hp2 | a0001 | c0005 | t0001 | g0298 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0281 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01993 | hp1 | a0001 | c0002 | t0001 | g0036 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0288 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0339 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0306 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0206 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0019 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0335 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0177 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02074 | hp1 | a0001 | c0003 | t0001 | g0125 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02074 | hp2 | a0001 | c0002 | t0001 | g0010 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0272 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02080 | hp2 | a0001 | c0003 | t0001 | g0108 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0296 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02083 | hp2 | a0001 | c0003 | t0001 | g0109 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02135 | hp1 | a0001 | c0002 | t0001 | g0042 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0179 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02148 | hp2 | a0001 | c0005 | t0006 | g0008 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02155 | hp1 | a0001 | c0003 | t0001 | g0111 | EAS | CDX | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0246 | EAS | CDX | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02165 | hp1 | a0001 | c0013 | t0001 | g0270 | EAS | CDX | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02165 | hp2 | a0001 | c0002 | t0001 | g0044 | EAS | CDX | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02257 | hp1 | a0001 | c0004 | t0001 | g0096 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02257 | hp2 | a0001 | c0001 | t0001 | g0178 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0013 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02258 | hp2 | a0001 | c0001 | t0001 | g0274 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0213 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02280 | hp1 | a0001 | c0008 | t0001 | g0218 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02280 | hp2 | a0001 | c0001 | t0014 | g0134 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02451 | hp1 | a0001 | c0003 | t0008 | g0104 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02451 | hp2 | a0001 | c0001 | t0002 | g0187 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02523 | hp1 | a0001 | c0003 | t0001 | g0110 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0237 | EAS | KHV | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0338 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0183 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0159 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02602 | hp2 | a0001 | c0001 | t0001 | g0160 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02615 | hp2 | a0001 | c0001 | t0001 | g0191 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0195 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0186 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0204 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02630 | hp2 | a0001 | c0001 | t0001 | g0098 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02683 | hp1 | a0001 | c0002 | t0001 | g0043 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0262 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0232 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02717 | hp1 | a0001 | c0001 | t0001 | g0329 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02717 | hp2 | a0001 | c0001 | t0001 | g0180 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0314 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0327 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0308 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02735 | hp2 | a0001 | c0002 | t0001 | g0049 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0172 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02738 | hp2 | a0001 | c0002 | t0001 | g0026 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0309 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02809 | hp2 | a0001 | c0003 | t0001 | g0107 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0100 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02818 | hp2 | a0001 | c0004 | t0001 | g0095 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0208 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0331 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0185 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0328 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0193 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02922 | hp1 | a0001 | c0004 | t0001 | g0093 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0085 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02965 | hp1 | a0001 | c0003 | t0007 | g0114 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02965 | hp2 | a0001 | c0001 | t0001 | g0077 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02970 | hp1 | a0001 | c0001 | t0001 | g0336 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0194 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0182 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0184 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0214 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0332 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0076 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03130 | hp2 | a0001 | c0001 | t0002 | g0099 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0188 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0139 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0192 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0189 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0075 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0190 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0334 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03225 | hp2 | a0001 | c0006 | t0001 | g0073 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0227 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03239 | hp2 | a0001 | c0002 | t0001 | g0028 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03453 | hp1 | a0001 | c0001 | t0004 | g0009 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03453 | hp2 | a0001 | c0004 | t0001 | g0313 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0157 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03490 | hp2 | a0001 | c0001 | t0001 | g0226 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03491 | hp1 | a0001 | c0001 | t0001 | g0170 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0245 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03516 | hp1 | a0001 | c0004 | t0001 | g0090 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0333 | AFR | ESN | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0166 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03540 | hp2 | a0001 | c0004 | t0001 | g0094 | AFR | GWD | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03579 | hp1 | a0001 | c0001 | t0001 | g0070 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0080 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03654 | hp1 | a0001 | c0002 | t0001 | g0059 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0088 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0137 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03669 | hp2 | a0001 | c0002 | t0001 | g0067 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0302 | SAS | STU | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03688 | hp2 | a0001 | c0002 | t0001 | g0023 | SAS | STU | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03704 | hp1 | a0001 | c0002 | t0001 | g0037 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03704 | hp2 | a0001 | c0002 | t0001 | g0020 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0273 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03710 | hp2 | a0001 | c0002 | t0012 | g0047 | SAS | PJL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03831 | hp1 | a0001 | c0002 | t0001 | g0035 | SAS | BEB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0279 | SAS | BEB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03834 | hp1 | a0001 | c0002 | t0001 | g0029 | SAS | BEB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03834 | hp2 | a0001 | c0012 | t0001 | g0027 | SAS | BEB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03927 | hp1 | a0001 | c0001 | t0010 | g0086 | SAS | BEB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0223 | SAS | BEB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG04204 | hp1 | a0001 | c0002 | t0001 | g0056 | SAS | STU | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0235 | SAS | STU | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0257 | SAS | STU | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG04228 | hp2 | a0001 | c0003 | t0001 | g0113 | SAS | STU | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | YRI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0202 | AFR | YRI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0290 | EAS | CHB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | CHB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0210 | EAS | CHB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0268 | EAS | CHB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0065 | AFR | YRI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0014 | AFR | YRI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18939 | hp2 | a0001 | c0002 | t0001 | g0041 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18940 | hp1 | a0002 | c0014 | t0001 | g0123 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18941 | hp2 | a0001 | c0002 | t0001 | g0033 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0315 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18943 | hp2 | a0001 | c0001 | t0009 | g0199 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18945 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0271 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18947 | hp1 | a0001 | c0001 | t0003 | g0341 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18947 | hp2 | a0001 | c0003 | t0001 | g0122 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18948 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18949 | hp2 | a0001 | c0009 | t0001 | g0215 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18950 | hp2 | a0001 | c0001 | t0003 | g0342 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18952 | hp1 | a0001 | c0001 | t0003 | g0340 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18952 | hp2 | a0001 | c0002 | t0001 | g0039 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0251 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18957 | hp2 | a0001 | c0003 | t0001 | g0121 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18964 | hp1 | a0001 | c0003 | t0001 | g0105 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0300 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18967 | hp2 | a0001 | c0003 | t0001 | g0117 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18972 | hp1 | a0001 | c0002 | t0001 | g0038 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0282 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18973 | hp1 | a0001 | c0003 | t0011 | g0136 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18974 | hp1 | a0001 | c0003 | t0001 | g0130 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18974 | hp2 | a0001 | c0001 | t0001 | g0292 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0250 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18977 | hp2 | a0001 | c0003 | t0001 | g0106 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18979 | hp1 | a0001 | c0001 | t0001 | g0305 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0318 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0293 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18981 | hp1 | a0001 | c0002 | t0001 | g0046 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18981 | hp2 | a0001 | c0003 | t0001 | g0124 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18982 | hp1 | a0001 | c0002 | t0001 | g0051 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18982 | hp2 | a0001 | c0001 | t0001 | g0256 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0260 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0319 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18985 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18985 | hp2 | a0001 | c0003 | t0001 | g0129 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18987 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18987 | hp2 | a0001 | c0003 | t0001 | g0135 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18988 | hp1 | a0001 | c0002 | t0001 | g0030 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0307 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18991 | hp2 | a0001 | c0003 | t0001 | g0174 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0291 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19000 | hp2 | a0001 | c0001 | t0001 | g0276 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0294 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19003 | hp2 | a0001 | c0001 | t0001 | g0216 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0258 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19005 | hp2 | a0001 | c0001 | t0001 | g0284 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19009 | hp1 | a0001 | c0003 | t0001 | g0112 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0275 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19010 | hp2 | a0001 | c0002 | t0001 | g0054 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19011 | hp1 | a0001 | c0003 | t0001 | g0115 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19011 | hp2 | a0001 | c0001 | t0003 | g0343 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19030 | hp1 | a0001 | c0007 | t0005 | g0311 | AFR | LWK | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0173 | AFR | LWK | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0140 | AFR | LWK | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0133 | AFR | LWK | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19055 | hp1 | a0001 | c0003 | t0001 | g0118 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19055 | hp2 | a0001 | c0002 | t0001 | g0055 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0280 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19056 | hp2 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19058 | hp2 | a0001 | c0002 | t0001 | g0058 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0303 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0323 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19063 | hp1 | a0001 | c0001 | t0001 | g0267 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19063 | hp2 | a0001 | c0003 | t0001 | g0103 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19065 | hp2 | a0001 | c0002 | t0001 | g0040 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0287 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19067 | hp2 | a0001 | c0002 | t0001 | g0071 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19074 | hp2 | a0001 | c0002 | t0001 | g0032 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0316 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0295 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0317 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0299 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0289 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0283 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19084 | hp1 | a0001 | c0002 | t0001 | g0048 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19084 | hp2 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19088 | hp1 | a0001 | c0002 | t0001 | g0031 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19088 | hp2 | a0001 | c0003 | t0001 | g0120 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0322 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19091 | hp1 | a0001 | c0002 | t0001 | g0022 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19091 | hp2 | a0001 | c0001 | t0001 | g0249 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19240 | hp1 | a0001 | c0003 | t0001 | g0132 | AFR | YRI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA19240 | hp2 | a0001 | c0001 | t0001 | g0072 | AFR | YRI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | ASW | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0163 | AFR | ASW | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0087 | EUR | TSI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0247 | EUR | TSI | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0138 | SAS | GIH | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0312 | SAS | GIH | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0005 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG01123 | hp2 | a0001 | c0004 | t0001 | g0089 | AMR | CLM | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0326 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02109 | hp2 | a0001 | c0015 | t0001 | g0063 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02486 | hp1 | a0001 | c0001 | t0004 | g0061 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02559 | hp1 | a0001 | c0004 | t0001 | g0097 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG02559 | hp2 | a0001 | c0001 | t0001 | g0078 | AFR | ACB | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0330 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG03471 | hp2 | a0001 | c0001 | t0001 | g0181 | AFR | MSL | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG06807 | hp1 | a0001 | c0003 | t0001 | g0128 | AFR | USA | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| HG06807 | hp2 | a0001 | c0006 | t0001 | g0079 | AFR | USA | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0286 | EAS | JPT | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0337 | AFR | USA | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | USA | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0060 | AFR | LWK | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| NA21309 | hp2 | a0001 | c0004 | t0001 | g0092 | AFR | LWK | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0225 | REF | REF | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0234 | REF | REF | SAP130_chr2_127936222_128033059 | SAP130 | chr2 | 127936222 | 128033059 |
| view | chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:127955105 | G | C | 1 | a0002 | 1 | NA18940.hp1 | missense_variant | MODERATE | c.2303C>G | p.Ala768Gly | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/21 | 2429/4084 | 2303/3174 | 768/1057 | chr2 | 127955105 |
| view | chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:127949969 | T | C | 1 | a0001c0011 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.2697A>G | p.Pro899Pro | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/21 | 2823/4084 | 2697/3174 | 899/1057 | chr2 | 127949969 | |||
| chr2:127950281 | A | G | 1 | a0001c0013 | 1 | HG02165.hp1 | synonymous_variant | LOW | c.2550T>C | p.His850His | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 17/21 | 2676/4084 | 2550/3174 | 850/1057 | chr2 | 127950281 | |||
| chr2:127955134 | G | C | 1 | a0001c0007 | 2 | HG01175.hp1 NA19030.hp1 |
synonymous_variant | LOW | c.2274C>G | p.Pro758Pro | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/21 | 2400/4084 | 2274/3174 | 758/1057 | chr2 | 127955134 | |||
| chr2:127986883 | G | A | 2 | a0001c0003 a0002c0014 |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
synonymous_variant | LOW | c.1860C>T | p.Thr620Thr | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/21 | 1986/4084 | 1860/3174 | 620/1057 | chr2 | 127986883 | |||
| chr2:128000084 | G | C | 1 | a0001c0005 | 5 | HG00735.hp2 HG01496.hp1 HG01928.hp2 others(2): Show |
synonymous_variant | LOW | c.1080C>G | p.Thr360Thr | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 9/21 | 1206/4084 | 1080/3174 | 360/1057 | chr2 | 128000084 | |||
| chr2:128000418 | T | G | 1 | a0001c0012 | 1 | HG03834.hp2 | synonymous_variant | LOW | c.906A>C | p.Ala302Ala | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 8/21 | 1032/4084 | 906/3174 | 302/1057 | chr2 | 128000418 | |||
| chr2:128000421 | A | C | 3 | a0001c0002 a0001c0010 a0001c0012 |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
synonymous_variant | LOW | c.903T>G | p.Ser301Ser | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 8/21 | 1029/4084 | 903/3174 | 301/1057 | chr2 | 128000421 | |||
| chr2:128010292 | C | T | 1 | a0001c0011 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.846G>A | p.Ala282Ala | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/21 | 972/4084 | 846/3174 | 282/1057 | chr2 | 128010292 | |||
| chr2:128010355 | A | G | 1 | a0001c0004 | 10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
synonymous_variant | LOW | c.783T>C | p.Pro261Pro | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/21 | 909/4084 | 783/3174 | 261/1057 | chr2 | 128010355 | |||
| chr2:128016539 | C | T | 1 | a0001c0010 | 1 | HG00323.hp1 | synonymous_variant | LOW | c.357G>A | p.Pro119Pro | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/21 | 483/4084 | 357/3174 | 119/1057 | chr2 | 128016539 | |||
| chr2:128016542 | G | A | 1 | a0001c0015 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.354C>T | p.Pro118Pro | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/21 | 480/4084 | 354/3174 | 118/1057 | chr2 | 128016542 | |||
| chr2:128016545 | C | T | 1 | a0001c0006 | 2 | HG03225.hp2 HG06807.hp2 |
splice_region_variant&synonymous_variant | LOW | c.351G>A | p.Pro117Pro | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/21 | 477/4084 | 351/3174 | 117/1057 | chr2 | 128016545 | |||
| chr2:128017734 | C | T | 1 | a0001c0009 | 1 | NA18949.hp2 | synonymous_variant | LOW | c.294G>A | p.Pro98Pro | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/21 | 420/4084 | 294/3174 | 98/1057 | chr2 | 128017734 | |||
| chr2:128017890 | A | G | 2 | a0001c0004 a0001c0008 |
11 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(8): Show |
synonymous_variant | LOW | c.138T>C | p.Ser46Ser | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/21 | 264/4084 | 138/3174 | 46/1057 | chr2 | 128017890 |
| view | chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:127941251 | C | T | 1 | a0001c0001t0002 | 4 | HG02451.hp2 HG03130.hp2 HG03139.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*755G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 755 | chr2 | 127941251 | ||||||
| chr2:127941252 | G | A | 1 | a0001c0002t0012 | 1 | HG03710.hp2 | 3_prime_UTR_variant | MODIFIER | c.*754C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 754 | chr2 | 127941252 | ||||||
| chr2:127941353 | T | C | 1 | a0001c0001t0004 | 3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
3_prime_UTR_variant | MODIFIER | c.*653A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 653 | chr2 | 127941353 | ||||||
| chr2:127941416 | A | T | 1 | a0001c0003t0011 | 1 | NA18973.hp1 | 3_prime_UTR_variant | MODIFIER | c.*590T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 590 | chr2 | 127941416 | ||||||
| chr2:127941436 | G | T | 1 | a0001c0007t0005 | 2 | HG01175.hp1 NA19030.hp1 |
3_prime_UTR_variant | MODIFIER | c.*570C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 570 | chr2 | 127941436 | ||||||
| chr2:127941444 | T | A | 1 | a0001c0003t0008 | 1 | HG02451.hp1 | 3_prime_UTR_variant | MODIFIER | c.*562A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 562 | chr2 | 127941444 | ||||||
| chr2:127941445 | A | T | 1 | a0001c0001t0010 | 1 | HG03927.hp1 | 3_prime_UTR_variant | MODIFIER | c.*561T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 561 | chr2 | 127941445 | ||||||
| chr2:127941505 | G | A | 1 | a0001c0011t0013 | 1 | HG00408.hp1 | 3_prime_UTR_variant | MODIFIER | c.*501C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 501 | chr2 | 127941505 | ||||||
| chr2:127941627 | A | C | 1 | a0001c0001t0009 | 1 | NA18943.hp2 | 3_prime_UTR_variant | MODIFIER | c.*379T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 379 | chr2 | 127941627 | ||||||
| chr2:127941806 | C | A | 1 | a0001c0001t0014 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*200G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 200 | chr2 | 127941806 | ||||||
| chr2:127941812 | A | G | 2 | a0001c0003t0007 a0001c0003t0008 |
2 | HG02451.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*194T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 194 | chr2 | 127941812 | ||||||
| chr2:127941813 | A | C | 2 | a0001c0003t0007 a0001c0003t0008 |
2 | HG02451.hp1 HG02965.hp1 |
3_prime_UTR_variant | MODIFIER | c.*193T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 21/21 | 193 | chr2 | 127941813 | ||||||
| chr2:128027999 | T | G | 1 | a0001c0005t0006 | 1 | HG02148.hp2 | 5_prime_UTR_variant | MODIFIER | c.-66A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/21 | 1707 | chr2 | 128027999 | ||||||
| chr2:128028000 | C | T | 1 | a0001c0005t0006 | 1 | HG02148.hp2 | 5_prime_UTR_variant | MODIFIER | c.-67G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/21 | 1708 | chr2 | 128028000 | ||||||
| chr2:128028022 | C | A | 1 | a0001c0001t0003 | 4 | NA18947.hp1 NA18950.hp2 NA18952.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-89G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/21 | 1730 | chr2 | 128028022 |
| view | chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:127942176 | G | C | 51 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(48): Show |
54 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(51): Show |
intron_variant | MODIFIER | c.3016-12C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 20/20 | chr2 | 127942176 | |||||||
| chr2:127942195 | G | A | 1 | a0001c0001t0001g0243 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.3016-31C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 20/20 | chr2 | 127942195 | |||||||
| chr2:127942202 | T | G | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.3016-38A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 20/20 | chr2 | 127942202 | |||||||
| chr2:127942259 | C | T | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.3016-95G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 20/20 | chr2 | 127942259 | |||||||
| chr2:127942661 | C | T | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.2902-124G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127942661 | |||||||
| chr2:127942700 | G | A | 2 | a0001c0001t0001g0190 a0001c0001t0001g0214 |
2 | HG03098.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.2902-163C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127942700 | |||||||
| chr2:127942716 | C | T | 2 | a0001c0003t0001g0107 a0001c0003t0001g0128 |
2 | HG02809.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.2902-179G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127942716 | |||||||
| chr2:127942743 | C | A | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2902-206G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127942743 | |||||||
| chr2:127942759 | C | T | 1 | a0001c0001t0001g0202 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2902-222G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127942759 | |||||||
| chr2:127942975 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2902-438G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127942975 | |||||||
| chr2:127942990 | AAAATAAA others(5): Show |
A | 2 | a0001c0002t0001g0023 a0001c0002t0001g0025 |
2 | HG00140.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.2902-465_2902-454d others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127942990 | |||||||
| chr2:127943277 | C | T | 1 | a0001c0001t0001g0255 | 1 | HG01258.hp2 | intron_variant | MODIFIER | c.2902-740G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127943277 | |||||||
| chr2:127943336 | T | C | 1 | a0001c0001t0001g0252 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.2902-799A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127943336 | |||||||
| chr2:127943538 | T | C | 2 | a0001c0002t0001g0024 a0001c0002t0001g0066 |
2 | HG00639.hp1 HG01109.hp1 |
intron_variant | MODIFIER | c.2902-1001A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127943538 | |||||||
| chr2:127943692 | A | T | 1 | a0001c0001t0001g0088 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2902-1155T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127943692 | |||||||
| chr2:127943877 | T | C | 1 | a0001c0001t0001g0101 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.2902-1340A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127943877 | |||||||
| chr2:127944077 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2901+1379C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944077 | |||||||
| chr2:127944094 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2901+1362G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944094 | |||||||
| chr2:127944124 | C | G | 1 | a0001c0001t0001g0246 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2901+1332G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944124 | |||||||
| chr2:127944134 | A | G | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.2901+1322T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944134 | |||||||
| chr2:127944165 | G | A | 1 | a0001c0002t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2901+1291C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944165 | |||||||
| chr2:127944173 | G | C | 1 | a0001c0001t0014g0134 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.2901+1283C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944173 | |||||||
| chr2:127944193 | C | T | 61 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0163 others(58): Show |
61 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(58): Show |
intron_variant | MODIFIER | c.2901+1263G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944193 | |||||||
| chr2:127944231 | C | T | 31 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(28): Show |
31 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.2901+1225G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944231 | |||||||
| chr2:127944270 | A | C | 1 | a0001c0001t0001g0142 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.2901+1186T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944270 | |||||||
| chr2:127944351 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2901+1105T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944351 | |||||||
| chr2:127944433 | A | AT | 233 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(230): Show |
240 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(237): Show |
intron_variant | MODIFIER | c.2901+1022dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944433 | |||||||
| chr2:127944434 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2901+1022A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944434 | |||||||
| chr2:127944570 | C | T | 11 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(8): Show |
11 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2901+886G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944570 | |||||||
| chr2:127944574 | C | T | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.2901+882G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944574 | |||||||
| chr2:127944730 | C | A | 1 | a0001c0001t0001g0160 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2901+726G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944730 | |||||||
| chr2:127944763 | G | A | 1 | a0001c0001t0001g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2901+693C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944763 | |||||||
| chr2:127944870 | C | A | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.2901+586G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944870 | |||||||
| chr2:127944901 | C | CA | 19 | a0001c0001t0001g0100 a0001c0001t0001g0214 a0001c0001t0001g0233 others(16): Show |
19 | HG00408.hp1 HG01123.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.2901+554dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944901 | |||||||
| chr2:127944901 | CA | C | 119 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(116): Show |
122 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.2901+554delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944901 | |||||||
| chr2:127944901 | CAA | C | 7 | a0001c0001t0001g0069 a0001c0001t0001g0145 a0001c0001t0001g0170 others(4): Show |
7 | HG01175.hp1 HG02897.hp1 HG03491.hp1 others(4): Show |
intron_variant | MODIFIER | c.2901+553_2901+554d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944901 | |||||||
| chr2:127944951 | C | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2901+505G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944951 | |||||||
| chr2:127944997 | T | C | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2901+459A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127944997 | |||||||
| chr2:127945115 | G | A | 1 | a0001c0001t0001g0141 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.2901+341C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127945115 | |||||||
| chr2:127945154 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2901+302C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127945154 | |||||||
| chr2:127945185 | A | AT | 3 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0087 |
3 | HG01070.hp2 HG01261.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.2901+270dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127945185 | |||||||
| chr2:127945215 | G | A | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2901+241C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127945215 | |||||||
| chr2:127945238 | A | G | 1 | a0001c0001t0001g0302 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2901+218T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127945238 | |||||||
| chr2:127945310 | T | A | 3 | a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0243 |
3 | NA18940.hp2 NA18950.hp1 NA18990.hp2 |
intron_variant | MODIFIER | c.2901+146A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 19/20 | chr2 | 127945310 | |||||||
| chr2:127945628 | A | G | 3 | a0001c0001t0001g0246 a0001c0001t0001g0266 a0001c0001t0001g0275 |
3 | HG02155.hp2 NA18941.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.2798-69T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127945628 | |||||||
| chr2:127945665 | T | A | 1 | a0001c0003t0001g0126 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.2798-106A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127945665 | |||||||
| chr2:127945710 | T | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2798-151A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127945710 | |||||||
| chr2:127945850 | G | C | 1 | a0001c0001t0001g0315 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.2798-291C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127945850 | |||||||
| chr2:127945903 | A | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2798-344T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127945903 | |||||||
| chr2:127945927 | A | G | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2798-368T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127945927 | |||||||
| chr2:127945942 | C | G | 1 | a0001c0002t0012g0047 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2798-383G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127945942 | |||||||
| chr2:127946073 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2798-514T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946073 | |||||||
| chr2:127946280 | G | T | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2798-721C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946280 | |||||||
| chr2:127946539 | C | T | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.2798-980G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946539 | |||||||
| chr2:127946550 | T | A | 33 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(30): Show |
33 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.2798-991A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946550 | |||||||
| chr2:127946552 | T | C | 2 | a0001c0001t0001g0074 a0001c0001t0001g0078 |
2 | HG02559.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.2798-993A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946552 | |||||||
| chr2:127946681 | G | T | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2798-1122C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946681 | |||||||
| chr2:127946776 | C | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2798-1217G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946776 | |||||||
| chr2:127946852 | G | C | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.2798-1293C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946852 | |||||||
| chr2:127946857 | C | G | 1 | a0001c0001t0001g0203 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2798-1298G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946857 | |||||||
| chr2:127946983 | G | A | 1 | a0001c0001t0001g0179 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2798-1424C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946983 | |||||||
| chr2:127946993 | T | TAG | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2798-1436_2798-143 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127946993 | |||||||
| chr2:127947080 | C | T | 1 | a0001c0003t0001g0108 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.2798-1521G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947080 | |||||||
| chr2:127947119 | G | A | 1 | a0001c0002t0001g0049 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2798-1560C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947119 | |||||||
| chr2:127947330 | G | A | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2798-1771C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947330 | |||||||
| chr2:127947697 | T | C | 43 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(40): Show |
43 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.2798-2138A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947697 | |||||||
| chr2:127947754 | T | C | 1 | a0001c0001t0001g0262 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.2797+2115A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947754 | |||||||
| chr2:127947754 | T | TTGTGTGT others(13): Show |
1 | a0001c0001t0001g0133 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2797+2114_2797+211 others(24): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947754 | |||||||
| chr2:127947754 | T | TTGTGTGT others(5): Show |
1 | a0001c0001t0001g0070 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.2797+2114_2797+211 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947754 | |||||||
| chr2:127947760 | GTGTC | G | 4 | a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0095 others(1): Show |
4 | HG02559.hp1 HG02818.hp2 HG02922.hp1 others(1): Show |
intron_variant | MODIFIER | c.2797+2105_2797+210 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947760 | |||||||
| chr2:127947762 | GTC | G | 5 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(2): Show |
5 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.2797+2105_2797+210 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947762 | |||||||
| chr2:127947764 | C | CTG | 17 | a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0001g0065 others(14): Show |
17 | HG01884.hp1 HG01975.hp2 HG02040.hp2 others(14): Show |
intron_variant | MODIFIER | c.2797+2103_2797+210 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTG | 7 | a0001c0001t0001g0072 a0001c0001t0004g0009 a0001c0001t0004g0062 others(4): Show |
7 | HG00140.hp1 HG01243.hp1 HG03453.hp1 others(4): Show |
intron_variant | MODIFIER | c.2797+2101_2797+210 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTG | 29 | a0001c0002t0001g0010 a0001c0002t0001g0020 a0001c0002t0001g0021 others(26): Show |
29 | HG00323.hp1 HG01074.hp1 HG01099.hp2 others(26): Show |
intron_variant | MODIFIER | c.2797+2099_2797+210 others(10): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGA others(1): Show |
4 | a0001c0003t0001g0109 a0001c0003t0001g0110 a0001c0003t0007g0114 others(1): Show |
4 | HG02083.hp2 HG02451.hp1 HG02523.hp1 others(1): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(12): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGA others(3): Show |
23 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(20): Show |
23 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(20): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGA others(5): Show |
2 | a0001c0003t0001g0108 a0001c0003t0001g0132 |
2 | HG02080.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGA others(7): Show |
2 | a0001c0003t0001g0128 a0001c0003t0001g0129 |
2 | HG06807.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(18): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGA others(9): Show |
1 | a0001c0003t0001g0107 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2797+2104_2797+210 others(20): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(1): Show |
8 | a0001c0002t0001g0024 a0001c0002t0001g0035 a0001c0002t0001g0038 others(5): Show |
8 | HG00544.hp2 HG00639.hp1 HG01109.hp1 others(5): Show |
intron_variant | MODIFIER | c.2797+2097_2797+210 others(12): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(7): Show |
1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2797+2104_2797+210 others(18): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(17): Show |
2 | a0001c0001t0001g0161 a0001c0001t0001g0162 |
2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(28): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(3): Show |
3 | a0001c0001t0001g0069 a0001c0001t0001g0326 a0001c0002t0001g0044 |
3 | HG02109.hp1 HG02165.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.2797+2095_2797+210 others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(5): Show |
6 | a0001c0001t0001g0005 a0001c0001t0001g0238 a0001c0001t0001g0284 others(3): Show |
6 | HG01123.hp1 HG01175.hp1 NA18953.hp1 others(3): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(7): Show |
34 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0082 others(31): Show |
34 | HG00423.hp2 HG01106.hp2 HG01175.hp2 others(31): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(18): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(9): Show |
77 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(74): Show |
80 | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(77): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(20): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(11): Show |
25 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0098 others(22): Show |
25 | HG00323.hp2 HG00741.hp1 HG01069.hp2 others(22): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(22): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(13): Show |
21 | a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0148 others(18): Show |
22 | HG00438.hp2 HG00738.hp1 HG00741.hp2 others(19): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(24): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(15): Show |
40 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0131 others(37): Show |
41 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(38): Show |
intron_variant | MODIFIER | c.2797+2104_2797+210 others(26): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | CTGTGTGT others(5): Show |
1 | a0001c0001t0004g0061 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2797+2093_2797+210 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | C | G | 3 | a0001c0001t0001g0070 a0001c0001t0001g0133 a0001c0004t0001g0092 |
3 | HG03579.hp1 NA19043.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.2797+2105G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947764 | CTGTG | C | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.2797+2101_2797+210 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947764 | |||||||
| chr2:127947765 | T | TGTGTGTG others(3): Show |
3 | a0001c0001t0001g0256 a0001c0001t0001g0321 a0001c0001t0001g0329 |
3 | HG00735.hp1 HG02717.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.2797+2103_2797+210 others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947765 | |||||||
| chr2:127947767 | T | TGTGTGTG others(1): Show |
14 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0163 others(11): Show |
14 | HG02055.hp1 HG02572.hp1 HG02886.hp2 others(11): Show |
intron_variant | MODIFIER | c.2797+2101_2797+210 others(12): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947767 | |||||||
| chr2:127947775 | T | A | 3 | a0001c0001t0001g0169 a0001c0001t0001g0214 a0001c0001t0001g0223 |
3 | HG03098.hp1 HG03927.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.2797+2094A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947775 | |||||||
| chr2:127947801 | T | TGTGTGTG others(12): Show |
1 | a0001c0001t0001g0223 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2797+2067_2797+206 others(23): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947801 | |||||||
| chr2:127947801 | T | TGTGTGTG others(14): Show |
1 | a0001c0001t0001g0214 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2797+2067_2797+206 others(25): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947801 | |||||||
| chr2:127947801 | T | TGTGTGTG others(16): Show |
1 | a0001c0001t0001g0169 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.2797+2067_2797+206 others(27): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947801 | |||||||
| chr2:127947823 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2797+2046C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947823 | |||||||
| chr2:127947860 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2797+2009A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947860 | |||||||
| chr2:127947880 | C | T | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2797+1989G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947880 | |||||||
| chr2:127947921 | T | C | 1 | a0001c0001t0001g0301 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2797+1948A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947921 | |||||||
| chr2:127947980 | AG | A | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2797+1888delC | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127947980 | |||||||
| chr2:127948009 | T | C | 340 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(337): Show |
347 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
intron_variant | MODIFIER | c.2797+1860A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948009 | |||||||
| chr2:127948159 | C | G | 1 | a0001c0001t0001g0302 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2797+1710G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948159 | |||||||
| chr2:127948161 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2797+1708G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948161 | |||||||
| chr2:127948312 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2797+1557G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948312 | |||||||
| chr2:127948328 | G | GT | 42 | a0001c0001t0001g0007 a0001c0001t0001g0069 a0001c0001t0001g0074 others(39): Show |
43 | HG00438.hp1 HG00735.hp2 HG00738.hp2 others(40): Show |
intron_variant | MODIFIER | c.2797+1540dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948328 | |||||||
| chr2:127948328 | GT | G | 8 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(5): Show |
8 | HG00639.hp2 HG02165.hp1 HG02965.hp2 others(5): Show |
intron_variant | MODIFIER | c.2797+1540delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948328 | |||||||
| chr2:127948369 | G | T | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2797+1500C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948369 | |||||||
| chr2:127948432 | C | T | 1 | a0001c0001t0001g0220 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2797+1437G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948432 | |||||||
| chr2:127948441 | G | A | 1 | a0001c0004t0001g0091 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2797+1428C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948441 | |||||||
| chr2:127948523 | G | A | 5 | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 others(2): Show |
5 | NA18612.hp2 NA18955.hp1 NA19004.hp2 others(2): Show |
intron_variant | MODIFIER | c.2797+1346C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948523 | |||||||
| chr2:127948585 | G | A | 1 | a0001c0002t0001g0048 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.2797+1284C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948585 | |||||||
| chr2:127948588 | C | A | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2797+1281G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948588 | |||||||
| chr2:127948621 | C | T | 1 | a0001c0009t0001g0215 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2797+1248G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948621 | |||||||
| chr2:127948806 | C | T | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2797+1063G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127948806 | |||||||
| chr2:127949063 | G | A | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.2797+806C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127949063 | |||||||
| chr2:127949116 | C | A | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2797+753G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127949116 | |||||||
| chr2:127949251 | A | G | 1 | a0001c0001t0001g0098 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2797+618T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127949251 | |||||||
| chr2:127949459 | G | A | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2797+410C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127949459 | |||||||
| chr2:127949546 | T | C | 1 | a0001c0003t0001g0128 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2797+323A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127949546 | |||||||
| chr2:127949779 | G | A | 1 | a0001c0001t0001g0088 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2797+90C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127949779 | |||||||
| chr2:127949826 | C | T | 1 | a0001c0002t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2797+43G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 18/20 | chr2 | 127949826 | |||||||
| chr2:127950060 | TAAGTGAG others(4): Show |
T | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2672-77_2672-67del others(11): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 17/20 | chr2 | 127950060 | |||||||
| chr2:127950072 | G | A | 1 | a0001c0001t0010g0086 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2672-78C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 17/20 | chr2 | 127950072 | |||||||
| chr2:127950120 | T | C | 1 | a0001c0001t0001g0154 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2671+40A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 17/20 | chr2 | 127950120 | |||||||
| chr2:127950489 | T | C | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.2423-81A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127950489 | |||||||
| chr2:127950721 | A | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2423-313T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127950721 | |||||||
| chr2:127950762 | T | C | 1 | a0001c0002t0001g0041 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.2423-354A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127950762 | |||||||
| chr2:127950783 | C | T | 1 | a0001c0001t0001g0284 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.2423-375G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127950783 | |||||||
| chr2:127951085 | C | T | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2423-677G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951085 | |||||||
| chr2:127951444 | C | T | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2423-1036G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951444 | |||||||
| chr2:127951469 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2423-1061G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951469 | |||||||
| chr2:127951550 | T | C | 1 | a0001c0001t0001g0290 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.2423-1142A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951550 | |||||||
| chr2:127951573 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2423-1165A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951573 | |||||||
| chr2:127951732 | C | T | 1 | a0001c0001t0004g0061 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2423-1324G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951732 | |||||||
| chr2:127951883 | T | C | 1 | a0001c0003t0001g0129 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.2423-1475A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951883 | |||||||
| chr2:127951931 | T | C | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.2423-1523A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951931 | |||||||
| chr2:127951946 | A | G | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.2423-1538T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127951946 | |||||||
| chr2:127952078 | A | G | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2423-1670T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952078 | |||||||
| chr2:127952231 | T | C | 1 | a0001c0001t0001g0195 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2423-1823A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952231 | |||||||
| chr2:127952251 | G | A | 77 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show |
80 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(77): Show |
intron_variant | MODIFIER | c.2423-1843C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952251 | |||||||
| chr2:127952277 | C | T | 2 | a0001c0001t0001g0316 a0001c0001t0001g0317 |
2 | NA19077.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.2423-1869G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952277 | |||||||
| chr2:127952435 | A | G | 43 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(40): Show |
43 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.2423-2027T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952435 | |||||||
| chr2:127952450 | TA | T | 85 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0069 others(82): Show |
85 | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(82): Show |
intron_variant | MODIFIER | c.2423-2043delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952450 | |||||||
| chr2:127952450 | TAA | T | 229 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(226): Show |
236 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(233): Show |
intron_variant | MODIFIER | c.2423-2044_2423-204 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952450 | |||||||
| chr2:127952468 | AAAT | A | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2423-2063_2423-206 others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952468 | |||||||
| chr2:127952521 | C | T | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.2423-2113G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952521 | |||||||
| chr2:127952565 | C | T | 1 | a0001c0001t0001g0204 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2423-2157G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952565 | |||||||
| chr2:127952607 | C | G | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2423-2199G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952607 | |||||||
| chr2:127952893 | C | T | 1 | a0001c0003t0001g0120 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.2422+2093G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127952893 | |||||||
| chr2:127953175 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2422+1811G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127953175 | |||||||
| chr2:127953605 | T | A | 1 | a0001c0001t0001g0241 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.2422+1381A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127953605 | |||||||
| chr2:127953741 | A | G | 1 | a0001c0001t0001g0179 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2422+1245T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127953741 | |||||||
| chr2:127953819 | G | A | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2422+1167C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127953819 | |||||||
| chr2:127953838 | C | T | 11 | a0001c0001t0001g0221 a0001c0001t0001g0231 a0001c0001t0001g0239 others(8): Show |
11 | HG00438.hp2 HG00673.hp2 HG02080.hp1 others(8): Show |
intron_variant | MODIFIER | c.2422+1148G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127953838 | |||||||
| chr2:127953875 | T | G | 1 | a0001c0001t0001g0202 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2422+1111A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127953875 | |||||||
| chr2:127953879 | T | TATACATA others(5): Show |
2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2422+1095_2422+110 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127953879 | |||||||
| chr2:127954031 | T | C | 2 | a0001c0001t0001g0069 a0001c0001t0001g0070 |
2 | HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2422+955A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127954031 | |||||||
| chr2:127954128 | C | T | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2422+858G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127954128 | |||||||
| chr2:127954230 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2422+756C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127954230 | |||||||
| chr2:127954341 | G | A | 1 | a0001c0001t0001g0159 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.2422+645C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127954341 | |||||||
| chr2:127954558 | C | G | 1 | a0001c0001t0001g0198 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.2422+428G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127954558 | |||||||
| chr2:127954847 | A | G | 1 | a0001c0002t0012g0047 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2422+139T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 16/20 | chr2 | 127954847 | |||||||
| chr2:127955358 | G | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-14C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955358 | |||||||
| chr2:127955523 | G | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-179C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955523 | |||||||
| chr2:127955547 | C | T | 1 | a0001c0002t0001g0045 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2064-203G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955547 | |||||||
| chr2:127955595 | T | C | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2064-251A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955595 | |||||||
| chr2:127955618 | C | G | 1 | a0001c0002t0001g0029 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.2064-274G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955618 | |||||||
| chr2:127955624 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-280G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955624 | |||||||
| chr2:127955629 | G | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-285C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955629 | |||||||
| chr2:127955659 | G | T | 1 | a0001c0001t0001g0303 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2064-315C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955659 | |||||||
| chr2:127955675 | A | G | 1 | a0001c0001t0001g0244 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.2064-331T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955675 | |||||||
| chr2:127955680 | G | A | 265 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(262): Show |
272 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(269): Show |
intron_variant | MODIFIER | c.2064-336C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955680 | |||||||
| chr2:127955730 | C | T | 1 | a0001c0002t0001g0043 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2064-386G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955730 | |||||||
| chr2:127955739 | C | T | 3 | a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 |
3 | HG02559.hp1 HG02922.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2064-395G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955739 | |||||||
| chr2:127955763 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-419G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955763 | |||||||
| chr2:127955889 | CAGT | C | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2064-548_2064-546d others(5): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955889 | |||||||
| chr2:127955893 | A | C | 10 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(7): Show |
10 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.2064-549T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127955893 | |||||||
| chr2:127956081 | A | G | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2064-737T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956081 | |||||||
| chr2:127956088 | T | C | 1 | a0001c0001t0002g0187 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.2064-744A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956088 | |||||||
| chr2:127956130 | G | C | 9 | a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 others(6): Show |
9 | HG02451.hp2 HG02622.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.2064-786C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956130 | |||||||
| chr2:127956159 | A | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-815T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956159 | |||||||
| chr2:127956317 | T | C | 1 | a0001c0001t0001g0303 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.2064-973A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956317 | |||||||
| chr2:127956559 | T | TG | 10 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0159 others(7): Show |
10 | HG00408.hp2 HG01978.hp1 HG02074.hp2 others(7): Show |
intron_variant | MODIFIER | c.2064-1216dupC | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956559 | |||||||
| chr2:127956560 | G | A | 1 | a0001c0002t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2064-1216C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956560 | |||||||
| chr2:127956630 | C | A | 1 | a0001c0001t0001g0333 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2064-1286G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956630 | |||||||
| chr2:127956630 | C | T | 3 | a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0015 |
3 | HG03041.hp2 NA18906.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.2064-1286G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956630 | |||||||
| chr2:127956635 | T | C | 1 | a0001c0001t0001g0261 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.2064-1291A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956635 | |||||||
| chr2:127956647 | A | G | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2064-1303T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956647 | |||||||
| chr2:127956702 | TA | T | 283 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(280): Show |
290 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(287): Show |
intron_variant | MODIFIER | c.2064-1359delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956702 | |||||||
| chr2:127956702 | TAA | T | 21 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(18): Show |
21 | HG00323.hp1 HG00438.hp1 HG00741.hp1 others(18): Show |
intron_variant | MODIFIER | c.2064-1360_2064-135 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956702 | |||||||
| chr2:127956702 | TAAA | T | 6 | a0001c0001t0001g0011 a0001c0004t0001g0089 a0001c0004t0001g0092 others(3): Show |
6 | HG01123.hp2 HG02257.hp1 HG02818.hp2 others(3): Show |
intron_variant | MODIFIER | c.2064-1361_2064-135 others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956702 | |||||||
| chr2:127956704 | A | T | 2 | a0001c0001t0001g0207 a0001c0008t0001g0218 |
2 | HG02280.hp1 NA19057.hp1 |
intron_variant | MODIFIER | c.2064-1360T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956704 | |||||||
| chr2:127956720 | A | G | 2 | a0001c0001t0001g0165 a0001c0001t0001g0217 |
2 | HG01069.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.2064-1376T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956720 | |||||||
| chr2:127956783 | C | T | 3 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0087 |
3 | HG01070.hp2 HG01261.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.2064-1439G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956783 | |||||||
| chr2:127956864 | T | G | 1 | a0001c0003t0001g0129 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.2064-1520A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956864 | |||||||
| chr2:127956892 | A | G | 1 | a0001c0002t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.2064-1548T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956892 | |||||||
| chr2:127956940 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2064-1596A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956940 | |||||||
| chr2:127956955 | T | C | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.2064-1611A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127956955 | |||||||
| chr2:127957143 | T | A | 6 | a0001c0001t0001g0001 a0001c0001t0001g0143 a0001c0001t0001g0145 others(3): Show |
7 | HG00673.hp1 HG02040.hp1 NA18953.hp2 others(4): Show |
intron_variant | MODIFIER | c.2064-1799A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957143 | |||||||
| chr2:127957322 | G | C | 254 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(251): Show |
261 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.2064-1978C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957322 | |||||||
| chr2:127957366 | A | G | 8 | a0001c0001t0001g0131 a0001c0001t0001g0142 a0001c0001t0001g0149 others(5): Show |
8 | NA18612.hp2 NA18955.hp1 NA18973.hp2 others(5): Show |
intron_variant | MODIFIER | c.2064-2022T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957366 | |||||||
| chr2:127957534 | C | T | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2064-2190G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957534 | |||||||
| chr2:127957535 | G | A | 1 | a0001c0001t0001g0297 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2064-2191C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957535 | |||||||
| chr2:127957666 | C | G | 1 | a0001c0001t0001g0232 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2064-2322G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957666 | |||||||
| chr2:127957694 | G | A | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-2350C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957694 | |||||||
| chr2:127957777 | G | A | 3 | a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 |
3 | HG02559.hp1 HG02922.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2064-2433C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957777 | |||||||
| chr2:127957798 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-2454A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957798 | |||||||
| chr2:127957855 | A | T | 221 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(218): Show |
228 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(225): Show |
intron_variant | MODIFIER | c.2064-2511T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957855 | |||||||
| chr2:127957856 | A | T | 1 | a0001c0001t0001g0236 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.2064-2512T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127957856 | |||||||
| chr2:127958061 | T | C | 1 | a0001c0001t0001g0297 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.2064-2717A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958061 | |||||||
| chr2:127958093 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2064-2749A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958093 | |||||||
| chr2:127958163 | C | T | 4 | a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0162 others(1): Show |
4 | HG00639.hp2 HG01257.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.2064-2819G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958163 | |||||||
| chr2:127958196 | C | T | 1 | a0001c0001t0001g0314 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.2064-2852G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958196 | |||||||
| chr2:127958282 | C | T | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2064-2938G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958282 | |||||||
| chr2:127958635 | T | TGA | 30 | a0001c0001t0001g0013 a0001c0001t0001g0060 a0001c0001t0001g0072 others(27): Show |
30 | HG00408.hp1 HG00639.hp1 HG01099.hp2 others(27): Show |
intron_variant | MODIFIER | c.2064-3293_2064-329 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | T | TGAGA | 7 | a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0326 others(4): Show |
7 | HG02109.hp1 HG02572.hp2 HG02738.hp2 others(4): Show |
intron_variant | MODIFIER | c.2064-3295_2064-329 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | T | TGAGAGA | 6 | a0001c0001t0001g0182 a0001c0001t0004g0009 a0001c0001t0004g0061 others(3): Show |
6 | HG02165.hp2 HG02486.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.2064-3297_2064-329 others(10): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | T | TGAGAGAG others(3): Show |
1 | a0001c0001t0001g0203 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.2064-3301_2064-329 others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | T | TGAGAGAG others(5): Show |
1 | a0001c0002t0001g0059 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2064-3303_2064-329 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGA | T | 24 | a0001c0001t0001g0065 a0001c0001t0001g0098 a0001c0001t0001g0101 others(21): Show |
24 | HG00558.hp1 HG01069.hp2 HG01243.hp1 others(21): Show |
intron_variant | MODIFIER | c.2064-3293_2064-329 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGA | T | 29 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(26): Show |
30 | HG00423.hp1 HG00558.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.2064-3295_2064-329 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGA | T | 33 | a0001c0001t0001g0003 a0001c0001t0001g0143 a0001c0001t0001g0145 others(30): Show |
34 | HG00438.hp1 HG00438.hp2 HG00639.hp2 others(31): Show |
intron_variant | MODIFIER | c.2064-3297_2064-329 others(10): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGAG others(1): Show |
T | 58 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0068 others(55): Show |
59 | HG00280.hp1 HG00673.hp2 HG00738.hp1 others(56): Show |
intron_variant | MODIFIER | c.2064-3299_2064-329 others(12): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGAG others(3): Show |
T | 18 | a0001c0001t0001g0016 a0001c0001t0001g0140 a0001c0001t0001g0166 others(15): Show |
18 | HG01106.hp1 HG01261.hp2 HG01978.hp2 others(15): Show |
intron_variant | MODIFIER | c.2064-3301_2064-329 others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGAG others(5): Show |
T | 95 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(92): Show |
99 | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(96): Show |
intron_variant | MODIFIER | c.2064-3303_2064-329 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGAG others(9): Show |
T | 5 | a0001c0001t0001g0259 a0001c0001t0001g0302 a0001c0007t0005g0310 others(2): Show |
5 | HG00323.hp1 HG01175.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-3307_2064-329 others(20): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGAG others(11): Show |
T | 2 | a0001c0002t0001g0023 a0001c0002t0001g0025 |
2 | HG00140.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.2064-3309_2064-329 others(22): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGAG others(13): Show |
T | 9 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(6): Show |
9 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.2064-3311_2064-329 others(24): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958635 | TGAGAGAG others(17): Show |
T | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2064-3315_2064-329 others(28): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958635 | |||||||
| chr2:127958794 | G | A | 2 | a0001c0001t0001g0318 a0001c0001t0001g0322 |
2 | NA18980.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.2064-3450C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958794 | |||||||
| chr2:127958816 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-3472G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958816 | |||||||
| chr2:127958946 | G | A | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2064-3602C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127958946 | |||||||
| chr2:127959019 | G | A | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.2064-3675C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959019 | |||||||
| chr2:127959125 | A | G | 1 | a0001c0001t0001g0250 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.2064-3781T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959125 | |||||||
| chr2:127959196 | T | C | 1 | a0001c0004t0001g0094 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2064-3852A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959196 | |||||||
| chr2:127959243 | T | C | 51 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(48): Show |
54 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(51): Show |
intron_variant | MODIFIER | c.2064-3899A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959243 | |||||||
| chr2:127959355 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-4011T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959355 | |||||||
| chr2:127959399 | G | A | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2064-4055C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959399 | |||||||
| chr2:127959412 | G | T | 3 | a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0058 |
3 | NA18981.hp1 NA19058.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.2064-4068C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959412 | |||||||
| chr2:127959435 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-4091G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959435 | |||||||
| chr2:127959507 | C | T | 2 | a0001c0001t0001g0224 a0001c0001t0001g0229 |
2 | NA19010.hp1 NA19084.hp2 |
intron_variant | MODIFIER | c.2064-4163G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959507 | |||||||
| chr2:127959553 | C | A | 2 | a0001c0003t0001g0107 a0001c0003t0001g0128 |
2 | HG02809.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.2064-4209G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959553 | |||||||
| chr2:127959752 | T | C | 49 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show |
52 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.2064-4408A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959752 | |||||||
| chr2:127959769 | A | G | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2064-4425T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959769 | |||||||
| chr2:127959817 | A | T | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2064-4473T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127959817 | |||||||
| chr2:127960079 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2064-4735A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960079 | |||||||
| chr2:127960301 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-4957C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960301 | |||||||
| chr2:127960329 | T | TGGGCACC others(10): Show |
1 | a0001c0001t0001g0272 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.2064-5002_2064-498 others(21): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960329 | |||||||
| chr2:127960485 | G | A | 1 | a0001c0001t0001g0312 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.2064-5141C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960485 | |||||||
| chr2:127960680 | A | G | 43 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(40): Show |
43 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.2064-5336T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960680 | |||||||
| chr2:127960790 | A | G | 265 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(262): Show |
272 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(269): Show |
intron_variant | MODIFIER | c.2064-5446T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960790 | |||||||
| chr2:127960977 | TTTTC | T | 4 | a0001c0001t0001g0074 a0001c0001t0001g0284 a0001c0002t0001g0050 others(1): Show |
4 | HG01358.hp2 HG02615.hp1 NA18985.hp2 others(1): Show |
intron_variant | MODIFIER | c.2064-5637_2064-563 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960977 | |||||||
| chr2:127960993 | CT | C | 7 | a0001c0001t0001g0147 a0001c0001t0001g0176 a0001c0001t0001g0184 others(4): Show |
7 | HG00140.hp1 HG01069.hp2 HG03041.hp1 others(4): Show |
intron_variant | MODIFIER | c.2064-5650delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960993 | |||||||
| chr2:127960997 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-5653A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127960997 | |||||||
| chr2:127961009 | T | G | 1 | a0001c0002t0001g0071 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.2064-5665A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961009 | |||||||
| chr2:127961305 | A | AT | 211 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show |
218 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.2064-5962dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961305 | |||||||
| chr2:127961305 | AT | A | 9 | a0001c0001t0001g0077 a0001c0002t0001g0033 a0001c0002t0001g0034 others(6): Show |
9 | HG01175.hp1 HG01975.hp2 HG02280.hp1 others(6): Show |
intron_variant | MODIFIER | c.2064-5962delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961305 | |||||||
| chr2:127961402 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-6058G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961402 | |||||||
| chr2:127961436 | C | T | 33 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(30): Show |
33 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.2064-6092G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961436 | |||||||
| chr2:127961473 | C | T | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2064-6129G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961473 | |||||||
| chr2:127961517 | CT | C | 253 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(250): Show |
260 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(257): Show |
intron_variant | MODIFIER | c.2064-6174delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961517 | |||||||
| chr2:127961517 | CTT | C | 11 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0175 others(8): Show |
11 | HG01069.hp2 HG01243.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.2064-6175_2064-617 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961517 | |||||||
| chr2:127961540 | A | T | 1 | a0001c0001t0001g0154 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2064-6196T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961540 | |||||||
| chr2:127961575 | T | C | 1 | a0001c0001t0001g0237 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.2064-6231A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961575 | |||||||
| chr2:127961677 | C | T | 1 | a0001c0001t0001g0327 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2064-6333G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961677 | |||||||
| chr2:127961688 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-6344G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961688 | |||||||
| chr2:127961698 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-6354C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961698 | |||||||
| chr2:127961734 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-6390T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127961734 | |||||||
| chr2:127962427 | A | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-7083T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127962427 | |||||||
| chr2:127962513 | T | C | 2 | a0001c0001t0001g0002 a0001c0001t0001g0158 |
3 | HG00738.hp1 HG00741.hp2 HG01070.hp1 |
intron_variant | MODIFIER | c.2064-7169A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127962513 | |||||||
| chr2:127962518 | C | T | 8 | a0001c0001t0001g0232 a0001c0001t0001g0255 a0001c0001t0001g0257 others(5): Show |
8 | HG01106.hp2 HG01175.hp2 HG01258.hp2 others(5): Show |
intron_variant | MODIFIER | c.2064-7174G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127962518 | |||||||
| chr2:127962556 | T | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-7212A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127962556 | |||||||
| chr2:127962890 | TA | T | 87 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(84): Show |
90 | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(87): Show |
intron_variant | MODIFIER | c.2064-7547delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127962890 | |||||||
| chr2:127963007 | G | GA | 172 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(169): Show |
175 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(172): Show |
intron_variant | MODIFIER | c.2064-7664dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963007 | |||||||
| chr2:127963108 | G | A | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2064-7764C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963108 | |||||||
| chr2:127963287 | C | T | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.2064-7943G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963287 | |||||||
| chr2:127963314 | C | T | 2 | a0001c0001t0001g0222 a0001c0001t0001g0258 |
2 | NA18942.hp2 NA19004.hp1 |
intron_variant | MODIFIER | c.2064-7970G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963314 | |||||||
| chr2:127963376 | C | T | 11 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(8): Show |
11 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2064-8032G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963376 | |||||||
| chr2:127963427 | G | C | 254 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(251): Show |
261 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.2064-8083C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963427 | |||||||
| chr2:127963536 | T | A | 1 | a0001c0001t0001g0318 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.2064-8192A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963536 | |||||||
| chr2:127963665 | C | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-8321G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963665 | |||||||
| chr2:127963715 | C | T | 1 | a0001c0001t0001g0202 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2064-8371G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963715 | |||||||
| chr2:127963716 | G | T | 3 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 |
3 | HG01123.hp2 HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.2064-8372C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963716 | |||||||
| chr2:127963746 | C | T | 5 | a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 others(2): Show |
5 | HG02965.hp2 HG03130.hp1 HG03209.hp1 others(2): Show |
intron_variant | MODIFIER | c.2064-8402G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963746 | |||||||
| chr2:127963747 | G | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-8403C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963747 | |||||||
| chr2:127963839 | A | G | 1 | a0001c0012t0001g0027 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2064-8495T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963839 | |||||||
| chr2:127963875 | C | T | 1 | a0001c0001t0001g0064 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.2064-8531G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963875 | |||||||
| chr2:127963895 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2064-8551A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963895 | |||||||
| chr2:127963910 | G | C | 2 | a0001c0001t0001g0233 a0001c0001t0001g0249 |
2 | NA19066.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.2064-8566C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127963910 | |||||||
| chr2:127964130 | G | C | 2 | a0001c0003t0001g0105 a0001c0003t0001g0124 |
2 | NA18964.hp1 NA18981.hp2 |
intron_variant | MODIFIER | c.2064-8786C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964130 | |||||||
| chr2:127964137 | G | T | 1 | a0001c0001t0001g0321 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2064-8793C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964137 | |||||||
| chr2:127964178 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-8834G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964178 | |||||||
| chr2:127964481 | C | T | 2 | a0001c0002t0001g0019 a0001c0002t0001g0022 |
2 | HG02040.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.2064-9137G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964481 | |||||||
| chr2:127964482 | G | A | 1 | a0001c0001t0001g0220 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.2064-9138C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964482 | |||||||
| chr2:127964494 | CA | C | 46 | a0001c0001t0001g0069 a0001c0001t0004g0009 a0001c0001t0004g0062 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.2064-9151delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964494 | |||||||
| chr2:127964494 | CAA | C | 17 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(14): Show |
17 | HG00438.hp2 HG00558.hp2 HG01175.hp2 others(14): Show |
intron_variant | MODIFIER | c.2064-9152_2064-915 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964494 | |||||||
| chr2:127964494 | CAAA | C | 246 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(243): Show |
253 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(250): Show |
intron_variant | MODIFIER | c.2064-9153_2064-915 others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964494 | |||||||
| chr2:127964494 | CAAAA | C | 13 | a0001c0001t0001g0017 a0001c0001t0001g0193 a0001c0001t0001g0222 others(10): Show |
13 | HG01070.hp2 HG01175.hp1 HG02165.hp1 others(10): Show |
intron_variant | MODIFIER | c.2064-9154_2064-915 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964494 | |||||||
| chr2:127964652 | A | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-9308T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964652 | |||||||
| chr2:127964724 | G | A | 1 | a0001c0001t0001g0208 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2064-9380C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964724 | |||||||
| chr2:127964826 | G | A | 6 | a0001c0001t0001g0244 a0001c0001t0001g0268 a0001c0001t0001g0271 others(3): Show |
6 | HG02165.hp1 NA18747.hp2 NA18945.hp2 others(3): Show |
intron_variant | MODIFIER | c.2064-9482C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964826 | |||||||
| chr2:127964841 | T | G | 1 | a0001c0001t0001g0265 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.2064-9497A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964841 | |||||||
| chr2:127964905 | A | G | 170 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(167): Show |
177 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(174): Show |
intron_variant | MODIFIER | c.2064-9561T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964905 | |||||||
| chr2:127964926 | G | C | 1 | a0001c0003t0001g0132 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2064-9582C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964926 | |||||||
| chr2:127964931 | G | A | 15 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0163 others(12): Show |
15 | HG02055.hp1 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.2064-9587C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964931 | |||||||
| chr2:127964998 | C | CA | 25 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(22): Show |
25 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(22): Show |
intron_variant | MODIFIER | c.2064-9655dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964998 | |||||||
| chr2:127964998 | C | CAA | 203 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(200): Show |
209 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.2064-9656_2064-965 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964998 | |||||||
| chr2:127964998 | C | CAAA | 50 | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0083 others(47): Show |
51 | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(48): Show |
intron_variant | MODIFIER | c.2064-9657_2064-965 others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127964998 | |||||||
| chr2:127965073 | G | C | 2 | a0001c0001t0001g0069 a0001c0001t0001g0070 |
2 | HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2064-9729C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965073 | |||||||
| chr2:127965101 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-9757G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965101 | |||||||
| chr2:127965228 | C | A | 1 | a0001c0001t0001g0289 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2064-9884G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965228 | |||||||
| chr2:127965311 | G | A | 1 | a0001c0001t0001g0250 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.2064-9967C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965311 | |||||||
| chr2:127965521 | G | T | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2064-10177C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965521 | |||||||
| chr2:127965611 | A | G | 1 | a0001c0001t0001g0133 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2064-10267T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965611 | |||||||
| chr2:127965762 | A | C | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10418T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965762 | |||||||
| chr2:127965780 | A | G | 1 | a0001c0001t0001g0074 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2064-10436T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965780 | |||||||
| chr2:127965782 | T | TCC | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10439_2064-10 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965782 | |||||||
| chr2:127965794 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10450C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965794 | |||||||
| chr2:127965795 | A | G | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10451T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965795 | |||||||
| chr2:127965796 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10452C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965796 | |||||||
| chr2:127965798 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10454C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965798 | |||||||
| chr2:127965800 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10456C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965800 | |||||||
| chr2:127965802 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10458C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965802 | |||||||
| chr2:127965804 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10460C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965804 | |||||||
| chr2:127965810 | G | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10466C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965810 | |||||||
| chr2:127965815 | AGTGT | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0303 |
3 | HG01123.hp1 HG01261.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.2064-10475_2064-10 others(10): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965815 | |||||||
| chr2:127965818 | G | A | 1 | a0001c0001t0001g0260 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2064-10474C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965818 | |||||||
| chr2:127965819 | T | A | 2 | a0001c0001t0001g0259 a0001c0001t0001g0260 |
2 | HG01952.hp2 NA18983.hp1 |
intron_variant | MODIFIER | c.2064-10475A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965819 | |||||||
| chr2:127965821 | A | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-10477T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965821 | |||||||
| chr2:127965822 | T | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10478A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965822 | |||||||
| chr2:127965823 | T | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10479A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965823 | |||||||
| chr2:127965826 | C | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10482G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965826 | |||||||
| chr2:127965828 | C | A | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.2064-10484G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965828 | |||||||
| chr2:127965829 | AGGGAATT others(84): Show |
A | 3 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0303 |
4 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(1): Show |
intron_variant | MODIFIER | c.2064-10576_2064-10 others(97): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965829 | |||||||
| chr2:127965830 | G | A | 1 | a0001c0001t0001g0260 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2064-10486C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965830 | |||||||
| chr2:127965831 | G | A | 1 | a0001c0001t0001g0260 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2064-10487C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965831 | |||||||
| chr2:127965832 | G | A | 1 | a0001c0001t0001g0260 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2064-10488C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965832 | |||||||
| chr2:127965834 | ATTTAATA others(79): Show |
A | 1 | a0001c0001t0001g0260 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2064-10576_2064-10 others(92): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965834 | |||||||
| chr2:127965845 | T | C | 4 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0326 others(1): Show |
4 | HG02109.hp1 HG02723.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.2064-10501A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965845 | |||||||
| chr2:127965880 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-10536T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965880 | |||||||
| chr2:127965899 | T | G | 1 | a0001c0002t0001g0059 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2064-10555A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127965899 | |||||||
| chr2:127966064 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-10720A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966064 | |||||||
| chr2:127966294 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-10950C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966294 | |||||||
| chr2:127966311 | C | T | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2064-10967G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966311 | |||||||
| chr2:127966380 | T | C | 1 | a0001c0001t0001g0327 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2064-11036A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966380 | |||||||
| chr2:127966416 | C | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2064-11072G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966416 | |||||||
| chr2:127966468 | C | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-11124G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966468 | |||||||
| chr2:127966495 | G | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2064-11151C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966495 | |||||||
| chr2:127966535 | T | C | 2 | a0001c0001t0001g0138 a0001c0001t0001g0172 |
2 | HG02738.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2064-11191A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966535 | |||||||
| chr2:127966611 | G | C | 3 | a0001c0001t0001g0146 a0001c0001t0001g0161 a0001c0001t0001g0162 |
3 | HG01257.hp2 HG01258.hp1 HG01981.hp2 |
intron_variant | MODIFIER | c.2064-11267C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966611 | |||||||
| chr2:127966888 | C | A | 1 | a0001c0001t0001g0301 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2063+11097G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966888 | |||||||
| chr2:127966903 | A | G | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.2063+11082T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127966903 | |||||||
| chr2:127967144 | A | G | 254 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(251): Show |
261 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.2063+10841T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967144 | |||||||
| chr2:127967248 | A | T | 340 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(337): Show |
347 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
intron_variant | MODIFIER | c.2063+10737T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967248 | |||||||
| chr2:127967316 | A | G | 1 | a0001c0001t0001g0229 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.2063+10669T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967316 | |||||||
| chr2:127967350 | T | A | 1 | a0001c0001t0001g0245 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.2063+10635A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967350 | |||||||
| chr2:127967419 | A | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+10566T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967419 | |||||||
| chr2:127967457 | T | C | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.2063+10528A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967457 | |||||||
| chr2:127967512 | C | A | 1 | a0001c0007t0005g0311 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.2063+10473G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967512 | |||||||
| chr2:127967523 | C | T | 1 | a0001c0001t0001g0172 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.2063+10462G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967523 | |||||||
| chr2:127967575 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+10410A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967575 | |||||||
| chr2:127967638 | C | T | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2063+10347G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967638 | |||||||
| chr2:127967677 | T | G | 1 | a0001c0001t0001g0152 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.2063+10308A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967677 | |||||||
| chr2:127967691 | C | T | 2 | a0001c0001t0001g0069 a0001c0001t0001g0070 |
2 | HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2063+10294G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967691 | |||||||
| chr2:127967805 | T | C | 3 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 |
3 | NA18941.hp2 NA19074.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.2063+10180A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127967805 | |||||||
| chr2:127968109 | A | AT | 59 | a0001c0001t0001g0177 a0001c0001t0001g0200 a0001c0001t0001g0205 others(56): Show |
59 | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(56): Show |
intron_variant | MODIFIER | c.2063+9875dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968109 | |||||||
| chr2:127968127 | A | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+9858T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968127 | |||||||
| chr2:127968175 | C | T | 1 | a0001c0002t0001g0045 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.2063+9810G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968175 | |||||||
| chr2:127968232 | C | T | 12 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0004t0001g0089 others(9): Show |
13 | HG01123.hp1 HG01123.hp2 HG01261.hp1 others(10): Show |
intron_variant | MODIFIER | c.2063+9753G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968232 | |||||||
| chr2:127968319 | C | T | 3 | a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0037 |
3 | HG02738.hp2 HG03704.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.2063+9666G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968319 | |||||||
| chr2:127968369 | C | T | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.2063+9616G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968369 | |||||||
| chr2:127968406 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+9579G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968406 | |||||||
| chr2:127968414 | G | GT | 18 | a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0004g0061 others(15): Show |
18 | HG00408.hp1 HG01109.hp1 HG02080.hp2 others(15): Show |
intron_variant | MODIFIER | c.2063+9570dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968414 | |||||||
| chr2:127968414 | GT | G | 9 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(6): Show |
9 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.2063+9570delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968414 | |||||||
| chr2:127968418 | T | G | 1 | a0001c0001t0001g0209 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.2063+9567A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968418 | |||||||
| chr2:127968418 | T | TG | 15 | a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0146 others(12): Show |
15 | HG01109.hp2 HG01192.hp2 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.2063+9566_2063+956 others(5): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968418 | |||||||
| chr2:127968419 | T | G | 213 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(210): Show |
220 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(217): Show |
intron_variant | MODIFIER | c.2063+9566A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968419 | |||||||
| chr2:127968422 | T | G | 1 | a0001c0001t0001g0291 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.2063+9563A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968422 | |||||||
| chr2:127968490 | C | T | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2063+9495G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968490 | |||||||
| chr2:127968763 | A | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2063+9222T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968763 | |||||||
| chr2:127968785 | G | A | 1 | a0001c0001t0001g0300 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.2063+9200C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968785 | |||||||
| chr2:127968808 | A | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2063+9177T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968808 | |||||||
| chr2:127968903 | A | G | 125 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(122): Show |
129 | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.2063+9082T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127968903 | |||||||
| chr2:127969076 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+8909A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127969076 | |||||||
| chr2:127969726 | C | T | 1 | a0001c0001t0001g0306 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.2063+8259G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127969726 | |||||||
| chr2:127969809 | C | T | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.2063+8176G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127969809 | |||||||
| chr2:127969967 | C | T | 1 | a0001c0002t0001g0023 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.2063+8018G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127969967 | |||||||
| chr2:127969991 | A | G | 1 | a0001c0003t0001g0107 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2063+7994T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127969991 | |||||||
| chr2:127970000 | T | C | 1 | a0001c0002t0001g0039 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.2063+7985A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970000 | |||||||
| chr2:127970107 | A | G | 9 | a0001c0001t0001g0186 a0001c0001t0001g0193 a0001c0001t0001g0194 others(6): Show |
9 | HG02451.hp2 HG02622.hp2 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.2063+7878T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970107 | |||||||
| chr2:127970165 | T | C | 4 | a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0158 others(1): Show |
5 | HG00738.hp1 HG00741.hp2 HG01070.hp1 others(2): Show |
intron_variant | MODIFIER | c.2063+7820A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970165 | |||||||
| chr2:127970221 | C | CA | 21 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0137 others(18): Show |
21 | HG01928.hp2 HG01978.hp1 HG01981.hp1 others(18): Show |
intron_variant | MODIFIER | c.2063+7763dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970221 | |||||||
| chr2:127970423 | C | T | 1 | a0001c0001t0001g0323 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.2063+7562G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970423 | |||||||
| chr2:127970459 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+7526A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970459 | |||||||
| chr2:127970496 | G | A | 1 | a0001c0001t0001g0321 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.2063+7489C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970496 | |||||||
| chr2:127970541 | T | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+7444A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970541 | |||||||
| chr2:127970541 | T | TA | 28 | a0001c0001t0001g0013 a0001c0001t0001g0069 a0001c0001t0001g0078 others(25): Show |
28 | HG00423.hp1 HG00735.hp1 HG01123.hp2 others(25): Show |
intron_variant | MODIFIER | c.2063+7443dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970541 | |||||||
| chr2:127970541 | T | TAA | 151 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(148): Show |
157 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(154): Show |
intron_variant | MODIFIER | c.2063+7442_2063+744 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970541 | |||||||
| chr2:127970541 | T | TAAA | 63 | a0001c0001t0001g0004 a0001c0001t0001g0082 a0001c0001t0001g0087 others(60): Show |
64 | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(61): Show |
intron_variant | MODIFIER | c.2063+7441_2063+744 others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970541 | |||||||
| chr2:127970541 | T | TAAAA | 9 | a0001c0001t0001g0139 a0001c0001t0001g0179 a0001c0001t0001g0183 others(6): Show |
9 | HG02148.hp1 HG02572.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.2063+7440_2063+744 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970541 | |||||||
| chr2:127970927 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+7058G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970927 | |||||||
| chr2:127970959 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+7026A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127970959 | |||||||
| chr2:127971073 | C | A | 77 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show |
80 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(77): Show |
intron_variant | MODIFIER | c.2063+6912G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971073 | |||||||
| chr2:127971124 | T | A | 1 | a0001c0002t0001g0031 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.2063+6861A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971124 | |||||||
| chr2:127971156 | T | C | 1 | a0001c0001t0001g0333 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2063+6829A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971156 | |||||||
| chr2:127971172 | C | T | 2 | a0001c0001t0001g0069 a0001c0001t0001g0070 |
2 | HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.2063+6813G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971172 | |||||||
| chr2:127971185 | T | A | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.2063+6800A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971185 | |||||||
| chr2:127971249 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+6736C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971249 | |||||||
| chr2:127971286 | CT | C | 261 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(258): Show |
268 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(265): Show |
intron_variant | MODIFIER | c.2063+6698delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971286 | |||||||
| chr2:127971308 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+6677G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971308 | |||||||
| chr2:127971435 | G | A | 1 | a0001c0003t0001g0103 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.2063+6550C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971435 | |||||||
| chr2:127971477 | C | T | 1 | a0001c0003t0001g0130 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.2063+6508G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971477 | |||||||
| chr2:127971531 | C | A | 30 | a0001c0002t0001g0010 a0001c0002t0001g0030 a0001c0002t0001g0031 others(27): Show |
30 | HG00544.hp2 HG01099.hp2 HG01358.hp2 others(27): Show |
intron_variant | MODIFIER | c.2063+6454G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971531 | |||||||
| chr2:127971538 | T | C | 1 | a0001c0010t0001g0324 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.2063+6447A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971538 | |||||||
| chr2:127971613 | C | T | 1 | a0001c0001t0003g0343 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.2063+6372G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971613 | |||||||
| chr2:127971649 | T | G | 3 | a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 |
3 | HG02559.hp1 HG02922.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.2063+6336A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971649 | |||||||
| chr2:127971761 | T | C | 280 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(277): Show |
287 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(284): Show |
intron_variant | MODIFIER | c.2063+6224A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971761 | |||||||
| chr2:127971777 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+6208A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127971777 | |||||||
| chr2:127972126 | G | A | 265 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(262): Show |
272 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(269): Show |
intron_variant | MODIFIER | c.2063+5859C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972126 | |||||||
| chr2:127972135 | C | T | 1 | a0001c0003t0001g0135 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.2063+5850G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972135 | |||||||
| chr2:127972136 | T | C | 1 | a0001c0003t0001g0135 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.2063+5849A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972136 | |||||||
| chr2:127972282 | C | G | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.2063+5703G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972282 | |||||||
| chr2:127972291 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+5694A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972291 | |||||||
| chr2:127972497 | C | A | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.2063+5488G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972497 | |||||||
| chr2:127972621 | G | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+5364C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972621 | |||||||
| chr2:127972656 | G | C | 1 | a0001c0001t0001g0083 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.2063+5329C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972656 | |||||||
| chr2:127972854 | A | G | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2063+5131T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972854 | |||||||
| chr2:127972997 | G | A | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.2063+4988C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127972997 | |||||||
| chr2:127973016 | C | T | 1 | a0001c0003t0007g0114 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2063+4969G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973016 | |||||||
| chr2:127973083 | T | C | 1 | a0001c0004t0001g0094 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.2063+4902A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973083 | |||||||
| chr2:127973090 | A | C | 1 | a0001c0002t0001g0043 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.2063+4895T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973090 | |||||||
| chr2:127973372 | ACAGGCAT others(135): Show |
A | 1 | a0001c0001t0001g0164 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2063+4471_2063+461 others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973372 | |||||||
| chr2:127973430 | C | G | 2 | a0001c0003t0007g0114 a0001c0003t0008g0104 |
2 | HG02451.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.2063+4555G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973430 | |||||||
| chr2:127973535 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+4450G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973535 | |||||||
| chr2:127973582 | G | C | 30 | a0001c0002t0001g0010 a0001c0002t0001g0030 a0001c0002t0001g0031 others(27): Show |
30 | HG00544.hp2 HG01099.hp2 HG01358.hp2 others(27): Show |
intron_variant | MODIFIER | c.2063+4403C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973582 | |||||||
| chr2:127973587 | C | A | 1 | a0001c0009t0001g0215 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.2063+4398G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973587 | |||||||
| chr2:127973588 | C | T | 1 | a0001c0001t0001g0085 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2063+4397G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973588 | |||||||
| chr2:127973633 | A | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+4352T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973633 | |||||||
| chr2:127973767 | G | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+4218C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973767 | |||||||
| chr2:127973803 | G | A | 1 | a0001c0001t0001g0137 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2063+4182C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973803 | |||||||
| chr2:127973829 | T | G | 10 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(7): Show |
10 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.2063+4156A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973829 | |||||||
| chr2:127973838 | C | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+4147G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973838 | |||||||
| chr2:127973843 | G | A | 1 | a0001c0001t0001g0289 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2063+4142C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127973843 | |||||||
| chr2:127974109 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0084 |
2 | HG01192.hp2 HG01346.hp2 |
intron_variant | MODIFIER | c.2063+3876C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974109 | |||||||
| chr2:127974111 | T | G | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2063+3874A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974111 | |||||||
| chr2:127974367 | A | T | 1 | a0001c0001t0001g0230 | 1 | NA18999.hp2 | intron_variant | MODIFIER | c.2063+3618T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974367 | |||||||
| chr2:127974426 | C | T | 1 | a0001c0001t0001g0075 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.2063+3559G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974426 | |||||||
| chr2:127974475 | T | TG | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2063+3509_2063+351 others(5): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974475 | |||||||
| chr2:127974535 | C | T | 11 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(8): Show |
11 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.2063+3450G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974535 | |||||||
| chr2:127974551 | C | T | 1 | a0001c0003t0001g0132 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2063+3434G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974551 | |||||||
| chr2:127974728 | G | A | 21 | a0001c0001t0001g0102 a0001c0001t0001g0179 a0001c0001t0001g0180 others(18): Show |
21 | HG00408.hp2 HG00558.hp1 HG02135.hp2 others(18): Show |
intron_variant | MODIFIER | c.2063+3257C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974728 | |||||||
| chr2:127974967 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+3018G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127974967 | |||||||
| chr2:127975047 | G | T | 1 | a0001c0001t0001g0300 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.2063+2938C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975047 | |||||||
| chr2:127975076 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+2909A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975076 | |||||||
| chr2:127975080 | C | A | 1 | a0001c0002t0001g0028 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2063+2905G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975080 | |||||||
| chr2:127975115 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+2870A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975115 | |||||||
| chr2:127975122 | TA | T | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2063+2862delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975122 | |||||||
| chr2:127975240 | G | A | 1 | a0001c0001t0001g0247 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2063+2745C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975240 | |||||||
| chr2:127975272 | A | C | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.2063+2713T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975272 | |||||||
| chr2:127975297 | C | A | 1 | a0001c0003t0001g0107 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.2063+2688G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975297 | |||||||
| chr2:127975379 | C | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+2606G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975379 | |||||||
| chr2:127975464 | G | A | 1 | a0001c0001t0001g0301 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2063+2521C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975464 | |||||||
| chr2:127975566 | C | CA | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.2063+2418dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975566 | |||||||
| chr2:127975813 | G | C | 1 | a0001c0002t0001g0059 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.2063+2172C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975813 | |||||||
| chr2:127975871 | C | G | 1 | a0001c0001t0001g0088 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.2063+2114G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975871 | |||||||
| chr2:127975990 | A | G | 1 | a0001c0002t0001g0034 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.2063+1995T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975990 | |||||||
| chr2:127975993 | C | T | 1 | a0001c0001t0001g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2063+1992G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127975993 | |||||||
| chr2:127976291 | C | G | 1 | a0001c0001t0001g0155 | 1 | NA18984.hp1 | intron_variant | MODIFIER | c.2063+1694G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127976291 | |||||||
| chr2:127976452 | C | T | 129 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(126): Show |
132 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.2063+1533G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127976452 | |||||||
| chr2:127976631 | G | A | 125 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(122): Show |
129 | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(126): Show |
intron_variant | MODIFIER | c.2063+1354C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127976631 | |||||||
| chr2:127976824 | T | C | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2063+1161A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127976824 | |||||||
| chr2:127976909 | G | A | 268 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(265): Show |
275 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(272): Show |
intron_variant | MODIFIER | c.2063+1076C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127976909 | |||||||
| chr2:127976998 | T | C | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2063+987A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127976998 | |||||||
| chr2:127977056 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+929G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977056 | |||||||
| chr2:127977095 | A | G | 1 | a0001c0001t0001g0202 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2063+890T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977095 | |||||||
| chr2:127977230 | A | T | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.2063+755T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977230 | |||||||
| chr2:127977252 | G | C | 1 | a0001c0012t0001g0027 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.2063+733C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977252 | |||||||
| chr2:127977253 | G | A | 129 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(126): Show |
132 | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(129): Show |
intron_variant | MODIFIER | c.2063+732C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977253 | |||||||
| chr2:127977313 | A | C | 1 | a0001c0001t0001g0160 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2063+672T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977313 | |||||||
| chr2:127977335 | C | CA | 253 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(250): Show |
260 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(257): Show |
intron_variant | MODIFIER | c.2063+649dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977335 | |||||||
| chr2:127977335 | C | CAA | 19 | a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0001g0159 others(16): Show |
19 | HG01175.hp2 HG02055.hp1 HG02083.hp1 others(16): Show |
intron_variant | MODIFIER | c.2063+648_2063+649d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977335 | |||||||
| chr2:127977378 | T | C | 2 | a0001c0001t0001g0081 a0001c0001t0001g0083 |
2 | HG00323.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.2063+607A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977378 | |||||||
| chr2:127977432 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+553G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977432 | |||||||
| chr2:127977433 | G | A | 1 | a0001c0001t0001g0191 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2063+552C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977433 | |||||||
| chr2:127977594 | T | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.2063+391A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977594 | |||||||
| chr2:127977736 | A | T | 2 | a0001c0001t0001g0072 a0001c0001t0001g0076 |
2 | HG03130.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.2063+249T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977736 | |||||||
| chr2:127977766 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+219C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977766 | |||||||
| chr2:127977799 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.2063+186A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 15/20 | chr2 | 127977799 | |||||||
| chr2:127978175 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1959-86A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127978175 | |||||||
| chr2:127978214 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1959-125A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127978214 | |||||||
| chr2:127978251 | ACATTACC others(55): Show |
A | 1 | a0001c0001t0001g0249 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.1959-224_1959-163d others(64): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127978251 | |||||||
| chr2:127978318 | C | T | 1 | a0001c0001t0001g0276 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.1959-229G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127978318 | |||||||
| chr2:127978769 | C | T | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1959-680G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127978769 | |||||||
| chr2:127978818 | T | C | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1959-729A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127978818 | |||||||
| chr2:127979034 | T | G | 1 | a0001c0001t0001g0154 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.1959-945A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979034 | |||||||
| chr2:127979081 | T | C | 254 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(251): Show |
261 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.1959-992A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979081 | |||||||
| chr2:127979097 | T | C | 9 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 others(6): Show |
9 | HG00735.hp1 HG01884.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.1959-1008A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979097 | |||||||
| chr2:127979112 | T | C | 77 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show |
80 | HG00280.hp1 HG00323.hp2 HG00639.hp2 others(77): Show |
intron_variant | MODIFIER | c.1959-1023A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979112 | |||||||
| chr2:127979157 | A | C | 1 | a0001c0001t0001g0088 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1959-1068T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979157 | |||||||
| chr2:127979162 | C | T | 265 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(262): Show |
272 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(269): Show |
intron_variant | MODIFIER | c.1959-1073G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979162 | |||||||
| chr2:127979182 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-1093C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979182 | |||||||
| chr2:127979253 | C | T | 1 | a0001c0002t0001g0026 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1959-1164G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979253 | |||||||
| chr2:127979354 | C | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-1265G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979354 | |||||||
| chr2:127979499 | AAGATAGA others(82): Show |
A | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.1959-1499_1959-141 others(93): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979499 | |||||||
| chr2:127979546 | A | G | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.1959-1457T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979546 | |||||||
| chr2:127979887 | T | C | 1 | a0001c0001t0001g0315 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1959-1798A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127979887 | |||||||
| chr2:127980002 | C | T | 27 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(24): Show |
27 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(24): Show |
intron_variant | MODIFIER | c.1959-1913G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980002 | |||||||
| chr2:127980018 | T | C | 2 | a0001c0001t0001g0266 a0001c0001t0001g0275 |
2 | NA18941.hp1 NA19009.hp2 |
intron_variant | MODIFIER | c.1959-1929A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980018 | |||||||
| chr2:127980099 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-2010C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980099 | |||||||
| chr2:127980159 | T | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-2070A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980159 | |||||||
| chr2:127980254 | T | C | 1 | a0001c0003t0001g0135 | 1 | NA18987.hp2 | intron_variant | MODIFIER | c.1959-2165A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980254 | |||||||
| chr2:127980304 | A | G | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.1959-2215T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980304 | |||||||
| chr2:127980448 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-2359C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980448 | |||||||
| chr2:127980457 | C | T | 1 | a0001c0001t0001g0293 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.1959-2368G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980457 | |||||||
| chr2:127980646 | A | G | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1959-2557T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980646 | |||||||
| chr2:127980681 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-2592G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980681 | |||||||
| chr2:127980896 | T | TCAACAAC others(2): Show |
246 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(243): Show |
253 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(250): Show |
intron_variant | MODIFIER | c.1959-2816_1959-280 others(13): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980896 | |||||||
| chr2:127980896 | T | TCAACAAC others(5): Show |
11 | a0001c0001t0001g0209 a0001c0004t0001g0089 a0001c0004t0001g0090 others(8): Show |
11 | HG01123.hp2 HG01891.hp1 HG02135.hp2 others(8): Show |
intron_variant | MODIFIER | c.1959-2819_1959-280 others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980896 | |||||||
| chr2:127980952 | G | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1959-2863C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127980952 | |||||||
| chr2:127981059 | C | G | 1 | a0001c0001t0001g0302 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1959-2970G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981059 | |||||||
| chr2:127981199 | G | C | 1 | a0001c0001t0001g0192 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.1959-3110C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981199 | |||||||
| chr2:127981324 | G | C | 211 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show |
218 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1959-3235C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981324 | |||||||
| chr2:127981335 | C | G | 10 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(7): Show |
10 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(7): Show |
intron_variant | MODIFIER | c.1959-3246G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981335 | |||||||
| chr2:127981352 | T | TACCCCCG others(115): Show |
298 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(295): Show |
305 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
intron_variant | MODIFIER | c.1959-3264_1959-326 others(126): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981352 | |||||||
| chr2:127981357 | T | C | 43 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(40): Show |
43 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.1959-3268A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981357 | |||||||
| chr2:127981371 | T | C | 43 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(40): Show |
43 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.1959-3282A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981371 | |||||||
| chr2:127981394 | ACCC | A | 211 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show |
218 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1959-3308_1959-330 others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981394 | |||||||
| chr2:127981397 | C | CCTGACTC others(112): Show |
38 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(35): Show |
38 | HG00438.hp1 HG00558.hp2 HG01123.hp2 others(35): Show |
intron_variant | MODIFIER | c.1959-3309_1959-330 others(123): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981397 | |||||||
| chr2:127981397 | C | CCTGACTC others(112): Show |
1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1959-3309_1959-330 others(123): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981397 | |||||||
| chr2:127981397 | C | CGACTCAG others(110): Show |
2 | a0001c0003t0001g0108 a0001c0003t0001g0126 |
2 | HG00423.hp1 HG02080.hp2 |
intron_variant | MODIFIER | c.1959-3309_1959-330 others(121): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981397 | |||||||
| chr2:127981397 | C | CGACTCAG others(110): Show |
2 | a0001c0003t0001g0109 a0001c0003t0001g0110 |
2 | HG02083.hp2 HG02523.hp1 |
intron_variant | MODIFIER | c.1959-3309_1959-330 others(121): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981397 | |||||||
| chr2:127981463 | A | G | 1 | a0001c0001t0001g0232 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1959-3374T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981463 | |||||||
| chr2:127981464 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-3375C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981464 | |||||||
| chr2:127981479 | C | T | 1 | a0001c0001t0001g0149 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1959-3390G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981479 | |||||||
| chr2:127981491 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-3402G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981491 | |||||||
| chr2:127981498 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-3409G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981498 | |||||||
| chr2:127981518 | CCT | C | 53 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(50): Show |
53 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(50): Show |
intron_variant | MODIFIER | c.1959-3431_1959-343 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981518 | |||||||
| chr2:127981552 | C | T | 2 | a0001c0001t0001g0235 a0001c0001t0001g0264 |
2 | HG01109.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.1959-3463G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981552 | |||||||
| chr2:127981559 | CCT | C | 4 | a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0230 others(1): Show |
4 | HG00408.hp1 HG01257.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1959-3472_1959-347 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981559 | |||||||
| chr2:127981569 | C | T | 1 | a0001c0001t0001g0323 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1959-3480G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981569 | |||||||
| chr2:127981603 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-3514C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981603 | |||||||
| chr2:127981662 | C | T | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1959-3573G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981662 | |||||||
| chr2:127981672 | C | T | 1 | a0001c0001t0002g0189 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1959-3583G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981672 | |||||||
| chr2:127981834 | T | C | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.1959-3745A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127981834 | |||||||
| chr2:127982146 | ACAATTTC others(51): Show |
A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1959-4115_1959-405 others(62): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982146 | |||||||
| chr2:127982147 | C | T | 2 | a0001c0001t0001g0003 a0001c0001t0001g0219 |
2 | NA19056.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.1959-4058G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982147 | |||||||
| chr2:127982170 | CA | C | 12 | a0001c0001t0001g0240 a0001c0004t0001g0089 a0001c0004t0001g0090 others(9): Show |
12 | HG01123.hp2 HG01168.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.1959-4082delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982170 | |||||||
| chr2:127982249 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1959-4160C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982249 | |||||||
| chr2:127982259 | T | C | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1959-4170A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982259 | |||||||
| chr2:127982505 | A | G | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.1958+4280T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982505 | |||||||
| chr2:127982514 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1958+4271A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982514 | |||||||
| chr2:127982583 | G | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1958+4202C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982583 | |||||||
| chr2:127982630 | G | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1958+4155C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982630 | |||||||
| chr2:127982633 | C | T | 1 | a0001c0001t0001g0227 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.1958+4152G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982633 | |||||||
| chr2:127982634 | G | A | 1 | a0001c0001t0001g0257 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1958+4151C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982634 | |||||||
| chr2:127982642 | G | A | 1 | a0001c0001t0001g0302 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.1958+4143C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982642 | |||||||
| chr2:127982765 | T | G | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1958+4020A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127982765 | |||||||
| chr2:127983130 | C | T | 1 | a0001c0003t0001g0130 | 1 | NA18974.hp1 | intron_variant | MODIFIER | c.1958+3655G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983130 | |||||||
| chr2:127983177 | C | T | 1 | a0001c0001t0001g0297 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1958+3608G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983177 | |||||||
| chr2:127983323 | C | T | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1958+3462G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983323 | |||||||
| chr2:127983470 | T | C | 1 | a0001c0001t0001g0232 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1958+3315A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983470 | |||||||
| chr2:127983605 | T | C | 6 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(3): Show |
6 | HG00408.hp1 HG02258.hp1 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.1958+3180A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983605 | |||||||
| chr2:127983626 | G | A | 119 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(116): Show |
119 | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(116): Show |
intron_variant | MODIFIER | c.1958+3159C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983626 | |||||||
| chr2:127983738 | T | C | 1 | a0001c0001t0001g0267 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.1958+3047A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983738 | |||||||
| chr2:127983822 | TG | T | 15 | a0001c0001t0001g0168 a0001c0001t0001g0222 a0001c0001t0001g0240 others(12): Show |
15 | HG01168.hp2 HG02155.hp2 HG02165.hp1 others(12): Show |
intron_variant | MODIFIER | c.1958+2962delC | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983822 | |||||||
| chr2:127983823 | G | GT | 10 | a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0064 others(7): Show |
10 | HG01884.hp1 HG02109.hp2 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.1958+2961dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983823 | |||||||
| chr2:127983823 | G | T | 240 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(237): Show |
247 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(244): Show |
intron_variant | MODIFIER | c.1958+2962C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983823 | |||||||
| chr2:127983828 | T | G | 1 | a0001c0003t0001g0116 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.1958+2957A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983828 | |||||||
| chr2:127983833 | T | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1958+2952A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983833 | |||||||
| chr2:127983833 | T | TG | 3 | a0001c0001t0001g0167 a0001c0006t0001g0073 a0001c0006t0001g0079 |
3 | HG00639.hp2 HG03225.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1958+2951_1958+295 others(5): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983833 | |||||||
| chr2:127983845 | T | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1958+2940A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983845 | |||||||
| chr2:127983846 | T | A | 109 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(106): Show |
113 | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(110): Show |
intron_variant | MODIFIER | c.1958+2939A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983846 | |||||||
| chr2:127983846 | T | TA | 121 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(118): Show |
124 | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(121): Show |
intron_variant | MODIFIER | c.1958+2938dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983846 | |||||||
| chr2:127983846 | T | TTA | 42 | a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0001g0070 others(39): Show |
42 | HG00735.hp1 HG01192.hp1 HG01884.hp2 others(39): Show |
intron_variant | MODIFIER | c.1958+2938_1958+293 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983846 | |||||||
| chr2:127983846 | T | TTTA | 44 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(41): Show |
44 | HG00323.hp1 HG00544.hp2 HG00639.hp1 others(41): Show |
intron_variant | MODIFIER | c.1958+2938_1958+293 others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983846 | |||||||
| chr2:127983846 | T | TTTTA | 6 | a0001c0002t0001g0025 a0001c0002t0001g0036 a0001c0002t0001g0046 others(3): Show |
6 | HG00140.hp1 HG01358.hp2 HG01993.hp1 others(3): Show |
intron_variant | MODIFIER | c.1958+2938_1958+293 others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127983846 | |||||||
| chr2:127984249 | T | C | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG01070.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.1958+2536A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127984249 | |||||||
| chr2:127984364 | C | T | 211 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show |
218 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1958+2421G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127984364 | |||||||
| chr2:127984557 | G | A | 1 | a0001c0001t0001g0278 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.1958+2228C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127984557 | |||||||
| chr2:127984648 | G | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1958+2137C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127984648 | |||||||
| chr2:127984771 | T | C | 94 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(91): Show |
98 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.1958+2014A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127984771 | |||||||
| chr2:127984850 | C | T | 1 | a0001c0001t0001g0258 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1958+1935G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127984850 | |||||||
| chr2:127984900 | T | C | 243 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(240): Show |
250 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(247): Show |
intron_variant | MODIFIER | c.1958+1885A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127984900 | |||||||
| chr2:127985147 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1958+1638T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985147 | |||||||
| chr2:127985332 | A | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1958+1453T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985332 | |||||||
| chr2:127985805 | C | T | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1958+980G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985805 | |||||||
| chr2:127985842 | G | A | 2 | a0001c0001t0001g0316 a0001c0001t0001g0317 |
2 | NA19077.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.1958+943C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985842 | |||||||
| chr2:127985853 | C | T | 1 | a0001c0001t0001g0297 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1958+932G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985853 | |||||||
| chr2:127985893 | C | A | 1 | a0001c0001t0001g0248 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.1958+892G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985893 | |||||||
| chr2:127985894 | A | G | 3 | a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0321 |
3 | HG00735.hp1 HG01884.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.1958+891T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985894 | |||||||
| chr2:127985978 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1958+807C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127985978 | |||||||
| chr2:127986005 | G | A | 3 | a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 |
3 | HG02559.hp1 HG02922.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1958+780C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986005 | |||||||
| chr2:127986038 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG00280.hp2 | intron_variant | MODIFIER | c.1958+747C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986038 | |||||||
| chr2:127986045 | A | G | 1 | a0001c0001t0002g0188 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1958+740T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986045 | |||||||
| chr2:127986140 | C | A | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1958+645G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986140 | |||||||
| chr2:127986269 | A | C | 1 | a0001c0002t0001g0045 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1958+516T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986269 | |||||||
| chr2:127986444 | T | C | 1 | a0001c0001t0010g0086 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.1958+341A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986444 | |||||||
| chr2:127986456 | TA | T | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1958+328delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986456 | |||||||
| chr2:127986489 | A | G | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1958+296T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986489 | |||||||
| chr2:127986740 | T | C | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1958+45A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 14/20 | chr2 | 127986740 | |||||||
| chr2:127986969 | G | A | 1 | a0001c0001t0001g0077 | 1 | HG02965.hp2 | splice_region_variant&intron_variant | LOW | c.1781-7C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127986969 | |||||||
| chr2:127987006 | A | G | 222 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(219): Show |
229 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(226): Show |
intron_variant | MODIFIER | c.1781-44T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987006 | |||||||
| chr2:127987109 | T | C | 2 | a0001c0001t0001g0233 a0001c0001t0001g0249 |
2 | NA19066.hp1 NA19091.hp2 |
intron_variant | MODIFIER | c.1781-147A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987109 | |||||||
| chr2:127987236 | A | G | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.1781-274T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987236 | |||||||
| chr2:127987386 | G | A | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1781-424C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987386 | |||||||
| chr2:127987417 | C | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1781-455G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987417 | |||||||
| chr2:127987522 | T | G | 1 | a0001c0002t0001g0026 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1781-560A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987522 | |||||||
| chr2:127987665 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1781-703T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987665 | |||||||
| chr2:127987909 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1781-947A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987909 | |||||||
| chr2:127987921 | T | G | 1 | a0001c0001t0001g0168 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1781-959A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127987921 | |||||||
| chr2:127988015 | C | T | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1781-1053G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988015 | |||||||
| chr2:127988027 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1781-1065G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988027 | |||||||
| chr2:127988166 | C | T | 315 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(312): Show |
322 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(319): Show |
intron_variant | MODIFIER | c.1781-1204G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988166 | |||||||
| chr2:127988299 | T | C | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.1780+1265A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988299 | |||||||
| chr2:127988302 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1780+1262A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988302 | |||||||
| chr2:127988367 | T | C | 1 | a0001c0004t0001g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1780+1197A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988367 | |||||||
| chr2:127988429 | T | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1780+1135A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988429 | |||||||
| chr2:127988429 | T | TA | 144 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(141): Show |
148 | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(145): Show |
intron_variant | MODIFIER | c.1780+1134dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988429 | |||||||
| chr2:127988429 | T | TAA | 17 | a0001c0001t0001g0178 a0001c0001t0001g0201 a0001c0001t0001g0223 others(14): Show |
17 | HG01978.hp2 HG02055.hp1 HG02080.hp1 others(14): Show |
intron_variant | MODIFIER | c.1780+1133_1780+113 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988429 | |||||||
| chr2:127988641 | G | C | 2 | a0001c0001t0001g0081 a0001c0001t0001g0083 |
2 | HG00323.hp2 HG02486.hp2 |
intron_variant | MODIFIER | c.1780+923C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988641 | |||||||
| chr2:127988761 | G | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1780+803C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988761 | |||||||
| chr2:127988856 | A | C | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1780+708T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988856 | |||||||
| chr2:127988881 | A | G | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.1780+683T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988881 | |||||||
| chr2:127988896 | A | G | 1 | a0001c0002t0001g0026 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.1780+668T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988896 | |||||||
| chr2:127988951 | G | A | 257 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(254): Show |
264 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.1780+613C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127988951 | |||||||
| chr2:127989046 | G | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1780+518C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989046 | |||||||
| chr2:127989101 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1780+463A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989101 | |||||||
| chr2:127989160 | G | A | 211 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show |
218 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1780+404C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989160 | |||||||
| chr2:127989199 | C | T | 1 | a0001c0003t0001g0129 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.1780+365G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989199 | |||||||
| chr2:127989283 | T | TAG | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1780+279_1780+280d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989283 | |||||||
| chr2:127989313 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1780+251T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989313 | |||||||
| chr2:127989385 | T | C | 50 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(47): Show |
53 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(50): Show |
intron_variant | MODIFIER | c.1780+179A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989385 | |||||||
| chr2:127989431 | C | T | 1 | a0001c0001t0001g0314 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1780+133G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989431 | |||||||
| chr2:127989449 | A | G | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.1780+115T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989449 | |||||||
| chr2:127989474 | A | T | 1 | a0001c0003t0001g0129 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.1780+90T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989474 | |||||||
| chr2:127989478 | C | A | 1 | a0001c0003t0001g0129 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.1780+86G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989478 | |||||||
| chr2:127989547 | C | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1780+17G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989547 | |||||||
| chr2:127989553 | T | A | 1 | a0001c0003t0001g0129 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.1780+11A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989553 | |||||||
| chr2:127989556 | A | T | 1 | a0001c0003t0001g0129 | 1 | NA18985.hp2 | splice_region_variant&intron_variant | LOW | c.1780+8T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 13/20 | chr2 | 127989556 | |||||||
| chr2:127989916 | C | T | 3 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0087 |
3 | HG01070.hp2 HG01261.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.1478-50G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127989916 | |||||||
| chr2:127989970 | C | T | 1 | a0001c0001t0001g0211 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.1478-104G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127989970 | |||||||
| chr2:127989975 | T | G | 2 | a0001c0001t0001g0227 a0001c0001t0001g0228 |
2 | HG00280.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.1478-109A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127989975 | |||||||
| chr2:127989994 | T | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1478-128A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127989994 | |||||||
| chr2:127990014 | C | T | 43 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(40): Show |
43 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.1478-148G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990014 | |||||||
| chr2:127990022 | T | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1478-156A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990022 | |||||||
| chr2:127990025 | C | A | 313 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(310): Show |
320 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(317): Show |
intron_variant | MODIFIER | c.1478-159G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990025 | |||||||
| chr2:127990157 | A | G | 267 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(264): Show |
274 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(271): Show |
intron_variant | MODIFIER | c.1478-291T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990157 | |||||||
| chr2:127990250 | G | A | 3 | a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0285 |
3 | HG01106.hp2 HG01175.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.1478-384C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990250 | |||||||
| chr2:127990261 | C | T | 1 | a0001c0001t0001g0070 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1478-395G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990261 | |||||||
| chr2:127990287 | G | A | 1 | a0001c0002t0001g0056 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.1478-421C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990287 | |||||||
| chr2:127990362 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1478-496T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990362 | |||||||
| chr2:127990513 | A | C | 2 | a0001c0001t0001g0231 a0001c0001t0001g0239 |
2 | NA18940.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.1478-647T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990513 | |||||||
| chr2:127990519 | T | C | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1478-653A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990519 | |||||||
| chr2:127990583 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1478-717G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990583 | |||||||
| chr2:127990634 | G | A | 1 | a0001c0002t0001g0029 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.1478-768C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990634 | |||||||
| chr2:127990664 | G | A | 211 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show |
218 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1478-798C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990664 | |||||||
| chr2:127990682 | G | T | 257 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(254): Show |
264 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.1478-816C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990682 | |||||||
| chr2:127990693 | C | T | 1 | a0001c0001t0001g0238 | 1 | NA18953.hp1 | intron_variant | MODIFIER | c.1478-827G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990693 | |||||||
| chr2:127990846 | T | C | 1 | a0001c0002t0001g0058 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1478-980A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990846 | |||||||
| chr2:127990938 | C | CA | 206 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(203): Show |
213 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(210): Show |
intron_variant | MODIFIER | c.1478-1073dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990938 | |||||||
| chr2:127990938 | C | CAA | 6 | a0001c0001t0001g0131 a0001c0001t0001g0157 a0001c0001t0001g0158 others(3): Show |
6 | HG01070.hp1 HG03490.hp1 NA18949.hp2 others(3): Show |
intron_variant | MODIFIER | c.1478-1074_1478-107 others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990938 | |||||||
| chr2:127990988 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1478-1122G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127990988 | |||||||
| chr2:127991158 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1478-1292C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991158 | |||||||
| chr2:127991173 | C | T | 1 | a0001c0001t0001g0301 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1478-1307G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991173 | |||||||
| chr2:127991223 | C | A | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1478-1357G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991223 | |||||||
| chr2:127991245 | G | A | 1 | a0001c0001t0001g0303 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.1478-1379C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991245 | |||||||
| chr2:127991367 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1478-1501G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991367 | |||||||
| chr2:127991368 | G | A | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1478-1502C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991368 | |||||||
| chr2:127991386 | G | T | 21 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(18): Show |
21 | HG01069.hp2 HG01243.hp2 HG01891.hp2 others(18): Show |
intron_variant | MODIFIER | c.1478-1520C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991386 | |||||||
| chr2:127991415 | C | T | 11 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(8): Show |
11 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(8): Show |
intron_variant | MODIFIER | c.1478-1549G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991415 | |||||||
| chr2:127991438 | C | CA | 8 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(5): Show |
8 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(5): Show |
intron_variant | MODIFIER | c.1478-1573dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991438 | |||||||
| chr2:127991460 | C | T | 1 | a0001c0002t0001g0071 | 1 | NA19067.hp2 | intron_variant | MODIFIER | c.1478-1594G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991460 | |||||||
| chr2:127991485 | C | T | 6 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0277 others(3): Show |
8 | HG00738.hp2 HG01074.hp2 HG01099.hp1 others(5): Show |
intron_variant | MODIFIER | c.1478-1619G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991485 | |||||||
| chr2:127991624 | A | G | 257 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(254): Show |
264 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.1477+1563T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991624 | |||||||
| chr2:127991782 | G | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1477+1405C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991782 | |||||||
| chr2:127991900 | C | T | 1 | a0001c0002t0001g0024 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1477+1287G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991900 | |||||||
| chr2:127991901 | G | A | 1 | a0001c0001t0001g0069 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1477+1286C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991901 | |||||||
| chr2:127991908 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.1477+1279C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991908 | |||||||
| chr2:127991914 | T | C | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.1477+1273A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127991914 | |||||||
| chr2:127992021 | G | C | 1 | a0001c0002t0001g0010 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.1477+1166C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992021 | |||||||
| chr2:127992032 | C | T | 1 | a0001c0001t0001g0237 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.1477+1155G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992032 | |||||||
| chr2:127992263 | C | T | 211 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(208): Show |
218 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.1477+924G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992263 | |||||||
| chr2:127992346 | T | C | 9 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 others(6): Show |
9 | HG00735.hp1 HG01884.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.1477+841A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992346 | |||||||
| chr2:127992408 | G | A | 43 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(40): Show |
43 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.1477+779C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992408 | |||||||
| chr2:127992673 | T | C | 1 | a0001c0001t0001g0213 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.1477+514A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992673 | |||||||
| chr2:127992701 | C | T | 1 | a0001c0003t0001g0119 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.1477+486G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992701 | |||||||
| chr2:127992702 | G | A | 2 | a0001c0001t0001g0074 a0001c0001t0001g0078 |
2 | HG02559.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.1477+485C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992702 | |||||||
| chr2:127992705 | A | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1477+482T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992705 | |||||||
| chr2:127992870 | T | C | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1477+317A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127992870 | |||||||
| chr2:127993065 | T | C | 1 | a0001c0001t0001g0258 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.1477+122A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 12/20 | chr2 | 127993065 | |||||||
| chr2:127993797 | C | T | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1356-489G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127993797 | |||||||
| chr2:127993798 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1356-490C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127993798 | |||||||
| chr2:127993939 | T | A | 1 | a0001c0003t0001g0127 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1356-631A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127993939 | |||||||
| chr2:127994040 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1356-732A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994040 | |||||||
| chr2:127994068 | A | G | 33 | a0001c0001t0001g0283 a0001c0003t0001g0103 a0001c0003t0001g0105 others(30): Show |
33 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(30): Show |
intron_variant | MODIFIER | c.1356-760T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994068 | |||||||
| chr2:127994328 | C | A | 1 | a0001c0001t0001g0289 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1356-1020G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994328 | |||||||
| chr2:127994329 | G | A | 1 | a0001c0001t0001g0202 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.1356-1021C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994329 | |||||||
| chr2:127994334 | C | T | 3 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 |
3 | HG02717.hp2 HG02976.hp1 HG03471.hp2 |
intron_variant | MODIFIER | c.1356-1026G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994334 | |||||||
| chr2:127994487 | G | A | 2 | a0001c0001t0001g0082 a0001c0001t0001g0084 |
2 | HG01192.hp2 HG01346.hp2 |
intron_variant | MODIFIER | c.1356-1179C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994487 | |||||||
| chr2:127994569 | G | A | 1 | a0001c0001t0001g0260 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.1356-1261C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994569 | |||||||
| chr2:127994624 | T | C | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1356-1316A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994624 | |||||||
| chr2:127994651 | C | T | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1356-1343G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994651 | |||||||
| chr2:127994652 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1356-1344C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994652 | |||||||
| chr2:127994675 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1356-1367A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994675 | |||||||
| chr2:127994683 | C | T | 1 | a0001c0001t0001g0210 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1356-1375G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994683 | |||||||
| chr2:127994749 | T | C | 328 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(325): Show |
335 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(332): Show |
intron_variant | MODIFIER | c.1356-1441A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127994749 | |||||||
| chr2:127995046 | AT | A | 254 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(251): Show |
261 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
intron_variant | MODIFIER | c.1355+1303delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995046 | |||||||
| chr2:127995293 | T | TA | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.1355+1056dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995293 | |||||||
| chr2:127995322 | G | A | 1 | a0001c0004t0001g0092 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1355+1028C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995322 | |||||||
| chr2:127995352 | G | A | 2 | a0001c0001t0001g0133 a0001c0001t0014g0134 |
2 | HG02280.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.1355+998C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995352 | |||||||
| chr2:127995365 | G | A | 6 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0004g0009 others(3): Show |
6 | HG01243.hp1 HG02280.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.1355+985C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995365 | |||||||
| chr2:127995497 | G | A | 257 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(254): Show |
264 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.1355+853C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995497 | |||||||
| chr2:127995511 | A | C | 4 | a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0158 others(1): Show |
5 | HG00738.hp1 HG00741.hp2 HG01070.hp1 others(2): Show |
intron_variant | MODIFIER | c.1355+839T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995511 | |||||||
| chr2:127995545 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1355+805A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995545 | |||||||
| chr2:127995561 | C | T | 2 | a0001c0001t0001g0082 a0001c0001t0001g0084 |
2 | HG01192.hp2 HG01346.hp2 |
intron_variant | MODIFIER | c.1355+789G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995561 | |||||||
| chr2:127995609 | A | T | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.1355+741T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995609 | |||||||
| chr2:127995637 | G | A | 1 | a0001c0001t0001g0288 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1355+713C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995637 | |||||||
| chr2:127995912 | C | T | 257 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(254): Show |
264 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.1355+438G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127995912 | |||||||
| chr2:127996003 | T | G | 21 | a0001c0001t0001g0102 a0001c0001t0001g0179 a0001c0001t0001g0180 others(18): Show |
21 | HG00408.hp2 HG00558.hp1 HG02135.hp2 others(18): Show |
intron_variant | MODIFIER | c.1355+347A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127996003 | |||||||
| chr2:127996215 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1355+135A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127996215 | |||||||
| chr2:127996280 | T | C | 326 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(323): Show |
333 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(330): Show |
intron_variant | MODIFIER | c.1355+70A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 11/20 | chr2 | 127996280 | |||||||
| chr2:127996623 | A | G | 49 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show |
52 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.1214-132T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127996623 | |||||||
| chr2:127996661 | T | A | 1 | a0001c0001t0001g0262 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.1214-170A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127996661 | |||||||
| chr2:127996777 | T | A | 3 | a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 |
3 | NA18954.hp1 NA18984.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.1214-286A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127996777 | |||||||
| chr2:127996831 | C | T | 3 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 |
3 | HG01123.hp2 HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.1214-340G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127996831 | |||||||
| chr2:127996882 | A | T | 1 | a0001c0001t0004g0062 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.1214-391T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127996882 | |||||||
| chr2:127996955 | C | T | 2 | a0001c0003t0001g0129 a0001c0003t0001g0130 |
2 | NA18974.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.1214-464G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127996955 | |||||||
| chr2:127997126 | G | A | 1 | a0001c0001t0001g0318 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.1214-635C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127997126 | |||||||
| chr2:127997169 | T | C | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.1214-678A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127997169 | |||||||
| chr2:127997713 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.1214-1222A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127997713 | |||||||
| chr2:127997746 | T | C | 1 | a0001c0001t0001g0203 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.1214-1255A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127997746 | |||||||
| chr2:127997827 | A | G | 2 | a0001c0001t0001g0101 a0001c0001t0001g0192 |
2 | HG01891.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1214-1336T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127997827 | |||||||
| chr2:127997842 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1214-1351T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127997842 | |||||||
| chr2:127998220 | C | T | 93 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(90): Show |
97 | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(94): Show |
intron_variant | MODIFIER | c.1213+1521G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998220 | |||||||
| chr2:127998257 | T | C | 1 | a0001c0001t0002g0188 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1213+1484A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998257 | |||||||
| chr2:127998259 | C | T | 303 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(300): Show |
310 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(307): Show |
intron_variant | MODIFIER | c.1213+1482G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998259 | |||||||
| chr2:127998361 | G | A | 1 | a0001c0004t0001g0095 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.1213+1380C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998361 | |||||||
| chr2:127998440 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1213+1301A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998440 | |||||||
| chr2:127998657 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1213+1084A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998657 | |||||||
| chr2:127998703 | G | A | 1 | a0001c0001t0001g0305 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.1213+1038C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998703 | |||||||
| chr2:127998745 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1213+996G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998745 | |||||||
| chr2:127998746 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1213+995T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127998746 | |||||||
| chr2:127999280 | C | G | 2 | a0001c0001t0001g0180 a0001c0001t0001g0181 |
2 | HG02717.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.1213+461G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999280 | |||||||
| chr2:127999311 | A | C | 1 | a0001c0002t0001g0055 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.1213+430T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999311 | |||||||
| chr2:127999330 | A | AGCTGAGT others(3): Show |
1 | a0001c0002t0001g0055 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.1213+401_1213+410d others(12): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999330 | |||||||
| chr2:127999333 | T | C | 257 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(254): Show |
264 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.1213+408A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999333 | |||||||
| chr2:127999393 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1213+348A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999393 | |||||||
| chr2:127999417 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.1213+324G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999417 | |||||||
| chr2:127999473 | A | G | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.1213+268T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999473 | |||||||
| chr2:127999616 | G | A | 1 | a0001c0002t0012g0047 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1213+125C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999616 | |||||||
| chr2:127999616 | GA | G | 23 | a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0264 others(20): Show |
23 | HG00408.hp1 HG01099.hp2 HG01109.hp2 others(20): Show |
intron_variant | MODIFIER | c.1213+124delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999616 | |||||||
| chr2:127999672 | A | T | 1 | a0001c0001t0001g0265 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.1213+69T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 10/20 | chr2 | 127999672 | |||||||
| chr2:128000222 | G | A | 1 | a0001c0001t0001g0294 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1018-76C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 8/20 | chr2 | 128000222 | |||||||
| chr2:128000230 | C | T | 267 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(264): Show |
274 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(271): Show |
intron_variant | MODIFIER | c.1017+77G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 8/20 | chr2 | 128000230 | |||||||
| chr2:128000509 | C | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.870-55G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128000509 | |||||||
| chr2:128000710 | G | A | 9 | a0001c0002t0001g0010 a0001c0002t0001g0034 a0001c0002t0001g0036 others(6): Show |
9 | HG01358.hp2 HG01975.hp2 HG01993.hp1 others(6): Show |
intron_variant | MODIFIER | c.870-256C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128000710 | |||||||
| chr2:128000765 | G | A | 3 | a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 |
3 | HG02559.hp1 HG02922.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.870-311C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128000765 | |||||||
| chr2:128000938 | T | C | 4 | a0001c0001t0001g0314 a0001c0001t0004g0009 a0001c0001t0004g0061 others(1): Show |
4 | HG01243.hp1 HG02486.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.870-484A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128000938 | |||||||
| chr2:128001055 | T | C | 14 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(11): Show |
14 | HG00408.hp1 HG01123.hp2 HG01175.hp1 others(11): Show |
intron_variant | MODIFIER | c.870-601A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001055 | |||||||
| chr2:128001281 | A | G | 260 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(257): Show |
267 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(264): Show |
intron_variant | MODIFIER | c.870-827T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001281 | |||||||
| chr2:128001383 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.870-929A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001383 | |||||||
| chr2:128001395 | C | T | 1 | a0001c0002t0001g0021 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.870-941G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001395 | |||||||
| chr2:128001464 | G | C | 2 | a0001c0001t0001g0069 a0001c0001t0001g0070 |
2 | HG03579.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.870-1010C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001464 | |||||||
| chr2:128001526 | G | A | 257 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(254): Show |
264 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.870-1072C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001526 | |||||||
| chr2:128001772 | G | A | 340 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(337): Show |
347 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
intron_variant | MODIFIER | c.870-1318C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001772 | |||||||
| chr2:128001932 | C | CT | 12 | a0001c0001t0001g0101 a0001c0001t0001g0300 a0001c0004t0001g0089 others(9): Show |
12 | HG01123.hp2 HG01891.hp1 HG01891.hp2 others(9): Show |
intron_variant | MODIFIER | c.870-1479dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001932 | |||||||
| chr2:128001968 | C | T | 1 | a0001c0001t0001g0197 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.870-1514G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128001968 | |||||||
| chr2:128002008 | C | T | 1 | a0001c0005t0001g0298 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.870-1554G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002008 | |||||||
| chr2:128002072 | G | A | 1 | a0001c0001t0014g0134 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.870-1618C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002072 | |||||||
| chr2:128002279 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.870-1825G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002279 | |||||||
| chr2:128002328 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.870-1874T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002328 | |||||||
| chr2:128002386 | G | A | 4 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0326 others(1): Show |
4 | HG02109.hp1 HG02723.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.870-1932C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002386 | |||||||
| chr2:128002386 | G | C | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.870-1932C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002386 | |||||||
| chr2:128002434 | G | A | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.870-1980C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002434 | |||||||
| chr2:128002514 | G | A | 1 | a0001c0001t0001g0319 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.870-2060C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002514 | |||||||
| chr2:128002778 | C | T | 4 | a0001c0001t0001g0004 a0001c0001t0001g0282 a0001c0001t0001g0299 others(1): Show |
5 | NA18939.hp1 NA18972.hp2 NA18988.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-2324G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002778 | |||||||
| chr2:128002832 | ACTTGGGC others(5): Show |
A | 4 | a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0010t0001g0324 others(1): Show |
4 | HG00323.hp1 HG03239.hp2 HG03834.hp1 others(1): Show |
intron_variant | MODIFIER | c.870-2390_870-2379d others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128002832 | |||||||
| chr2:128003088 | C | G | 1 | a0002c0014t0001g0123 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.870-2634G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003088 | |||||||
| chr2:128003112 | C | T | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.870-2658G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003112 | |||||||
| chr2:128003121 | G | A | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.870-2667C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003121 | |||||||
| chr2:128003174 | A | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.870-2720T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003174 | |||||||
| chr2:128003311 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.870-2857T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003311 | |||||||
| chr2:128003579 | G | A | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.870-3125C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003579 | |||||||
| chr2:128003655 | C | T | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.870-3201G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003655 | |||||||
| chr2:128003728 | C | CT | 98 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(95): Show |
98 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.870-3275dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003728 | |||||||
| chr2:128003957 | C | CT | 22 | a0001c0001t0001g0088 a0001c0001t0001g0222 a0001c0001t0001g0229 others(19): Show |
22 | HG00423.hp2 HG00735.hp2 HG02027.hp2 others(19): Show |
intron_variant | MODIFIER | c.870-3504dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTT | 13 | a0001c0001t0001g0133 a0001c0001t0001g0158 a0001c0001t0001g0162 others(10): Show |
13 | HG01070.hp1 HG01109.hp2 HG01257.hp2 others(10): Show |
intron_variant | MODIFIER | c.870-3505_870-3504d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTT | 34 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0137 others(31): Show |
36 | HG00738.hp1 HG00741.hp2 HG01069.hp1 others(33): Show |
intron_variant | MODIFIER | c.870-3506_870-3504d others(5): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTT | 21 | a0001c0001t0001g0001 a0001c0001t0001g0131 a0001c0001t0001g0138 others(18): Show |
22 | HG00639.hp2 HG00673.hp1 HG01192.hp1 others(19): Show |
intron_variant | MODIFIER | c.870-3507_870-3504d others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTT | 7 | a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0141 others(4): Show |
7 | HG00280.hp1 HG02055.hp1 HG02897.hp1 others(4): Show |
intron_variant | MODIFIER | c.870-3508_870-3504d others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTT | 8 | a0001c0001t0001g0017 a0001c0001t0001g0081 a0001c0001t0001g0084 others(5): Show |
8 | HG00323.hp2 HG01070.hp2 HG01346.hp2 others(5): Show |
intron_variant | MODIFIER | c.870-3509_870-3504d others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(3): Show |
1 | a0001c0001t0003g0341 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.870-3513_870-3504d others(12): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(4): Show |
2 | a0001c0001t0001g0065 a0001c0001t0001g0142 |
2 | NA18906.hp1 NA18973.hp2 |
intron_variant | MODIFIER | c.870-3514_870-3504d others(13): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(5): Show |
2 | a0001c0001t0001g0068 a0001c0006t0001g0079 |
2 | HG01168.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.870-3515_870-3504d others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(8): Show |
4 | a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0043 others(1): Show |
4 | HG01993.hp1 HG02165.hp2 HG02683.hp1 others(1): Show |
intron_variant | MODIFIER | c.870-3518_870-3504d others(17): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(9): Show |
3 | a0001c0002t0001g0010 a0001c0002t0001g0041 a0001c0002t0001g0042 |
3 | HG02074.hp2 HG02135.hp1 NA18939.hp2 |
intron_variant | MODIFIER | c.870-3519_870-3504d others(18): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(10): Show |
3 | a0001c0001t0001g0078 a0001c0002t0001g0050 a0001c0002t0001g0071 |
3 | HG01358.hp2 HG02559.hp2 NA19067.hp2 |
intron_variant | MODIFIER | c.870-3520_870-3504d others(19): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(11): Show |
3 | a0001c0002t0001g0034 a0001c0002t0001g0040 a0001c0002t0001g0054 |
3 | HG01975.hp2 NA19010.hp2 NA19065.hp2 |
intron_variant | MODIFIER | c.870-3521_870-3504d others(20): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(12): Show |
1 | a0001c0006t0001g0073 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.870-3522_870-3504d others(21): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(13): Show |
1 | a0001c0001t0001g0074 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.870-3523_870-3504d others(22): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(14): Show |
1 | a0001c0002t0001g0030 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.870-3524_870-3504d others(23): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(15): Show |
2 | a0001c0002t0001g0039 a0001c0002t0001g0057 |
2 | HG01099.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.870-3525_870-3504d others(24): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(16): Show |
1 | a0001c0002t0001g0038 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.870-3526_870-3504d others(25): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(17): Show |
1 | a0001c0002t0001g0037 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.870-3527_870-3504d others(26): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(19): Show |
1 | a0001c0001t0001g0014 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.870-3529_870-3504d others(28): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(20): Show |
3 | a0001c0001t0001g0011 a0001c0001t0001g0015 a0001c0001t0004g0061 |
3 | HG02486.hp1 HG03041.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.870-3530_870-3504d others(29): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(22): Show |
2 | a0001c0002t0001g0053 a0001c0002t0012g0047 |
2 | HG01934.hp2 HG03710.hp2 |
intron_variant | MODIFIER | c.870-3532_870-3504d others(31): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(25): Show |
1 | a0001c0001t0001g0013 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.870-3535_870-3504d others(34): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(26): Show |
1 | a0001c0002t0001g0052 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.870-3504_870-3503i others(35): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(28): Show |
1 | a0001c0001t0001g0064 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.870-3504_870-3503i others(37): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | C | CTTTTTTT others(30): Show |
1 | a0001c0001t0001g0012 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.870-3504_870-3503i others(39): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | CT | C | 29 | a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 others(26): Show |
29 | HG00423.hp1 HG00558.hp2 HG01258.hp2 others(26): Show |
intron_variant | MODIFIER | c.870-3504delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | CTTTTTT | C | 11 | a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 others(8): Show |
11 | HG00323.hp1 HG00639.hp1 HG01109.hp1 others(8): Show |
intron_variant | MODIFIER | c.870-3509_870-3504d others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | CTTTTTTT others(3): Show |
C | 13 | a0001c0001t0001g0018 a0001c0004t0001g0089 a0001c0004t0001g0090 others(10): Show |
13 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(10): Show |
intron_variant | MODIFIER | c.870-3513_870-3504d others(12): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | CTTTTTTT others(4): Show |
C | 3 | a0001c0001t0001g0309 a0001c0002t0001g0046 a0001c0002t0001g0058 |
3 | HG02809.hp1 NA18981.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.870-3514_870-3504d others(13): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | CTTTTTTT others(6): Show |
C | 2 | a0001c0003t0007g0114 a0001c0003t0008g0104 |
2 | HG02451.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.870-3516_870-3504d others(15): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | CTTTTTTT others(7): Show |
C | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.870-3517_870-3504d others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128003957 | CTTTTTTT others(12): Show |
C | 1 | a0001c0003t0001g0132 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.870-3522_870-3504d others(21): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128003957 | |||||||
| chr2:128004130 | T | C | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.870-3676A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004130 | |||||||
| chr2:128004361 | C | CT | 59 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(56): Show |
59 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(56): Show |
intron_variant | MODIFIER | c.870-3908dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004361 | |||||||
| chr2:128004361 | CT | C | 177 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(174): Show |
183 | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(180): Show |
intron_variant | MODIFIER | c.870-3908delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004361 | |||||||
| chr2:128004361 | CTT | C | 60 | a0001c0001t0001g0133 a0001c0001t0001g0139 a0001c0001t0001g0140 others(57): Show |
60 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(57): Show |
intron_variant | MODIFIER | c.870-3909_870-3908d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004361 | |||||||
| chr2:128004361 | CTTTTTTT | C | 15 | a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0064 others(12): Show |
15 | HG01884.hp1 HG02109.hp2 HG02559.hp2 others(12): Show |
intron_variant | MODIFIER | c.870-3914_870-3908d others(9): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004361 | |||||||
| chr2:128004361 | CTTTTTTT others(4): Show |
C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.870-3918_870-3908d others(13): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004361 | |||||||
| chr2:128004361 | CTTTTTTT others(8): Show |
C | 1 | a0001c0001t0001g0070 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.870-3922_870-3908d others(17): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004361 | |||||||
| chr2:128004394 | G | A | 1 | a0001c0001t0001g0078 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.870-3940C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004394 | |||||||
| chr2:128004477 | G | A | 1 | a0001c0003t0001g0120 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.870-4023C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004477 | |||||||
| chr2:128004511 | G | A | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.870-4057C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004511 | |||||||
| chr2:128004754 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.870-4300G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128004754 | |||||||
| chr2:128005008 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.870-4554T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005008 | |||||||
| chr2:128005034 | C | T | 1 | a0001c0001t0001g0320 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.870-4580G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005034 | |||||||
| chr2:128005054 | T | C | 1 | a0001c0002t0001g0057 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.870-4600A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005054 | |||||||
| chr2:128005145 | C | T | 1 | a0001c0001t0001g0204 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.870-4691G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005145 | |||||||
| chr2:128005272 | C | G | 1 | a0001c0001t0001g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.870-4818G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005272 | |||||||
| chr2:128005281 | G | C | 2 | a0001c0003t0001g0121 a0001c0003t0001g0135 |
2 | NA18957.hp2 NA18987.hp2 |
intron_variant | MODIFIER | c.870-4827C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005281 | |||||||
| chr2:128005388 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+4881C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005388 | |||||||
| chr2:128005434 | T | C | 4 | a0001c0001t0001g0005 a0001c0001t0001g0259 a0001c0001t0001g0260 others(1): Show |
5 | HG01123.hp1 HG01261.hp1 HG01952.hp2 others(2): Show |
intron_variant | MODIFIER | c.869+4835A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005434 | |||||||
| chr2:128005441 | C | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+4828G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005441 | |||||||
| chr2:128005563 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+4706A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005563 | |||||||
| chr2:128005571 | C | T | 1 | a0001c0001t0001g0229 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.869+4698G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005571 | |||||||
| chr2:128005650 | C | CT | 7 | a0001c0001t0001g0102 a0001c0001t0001g0142 a0001c0001t0001g0204 others(4): Show |
7 | HG00280.hp2 HG02257.hp1 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.869+4618dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005650 | |||||||
| chr2:128005657 | T | A | 1 | a0001c0001t0001g0280 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.869+4612A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005657 | |||||||
| chr2:128005699 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+4570G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128005699 | |||||||
| chr2:128006100 | A | G | 1 | a0001c0012t0001g0027 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.869+4169T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006100 | |||||||
| chr2:128006237 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+4032G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006237 | |||||||
| chr2:128006252 | T | C | 1 | a0001c0002t0001g0019 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.869+4017A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006252 | |||||||
| chr2:128006343 | G | A | 1 | a0001c0001t0001g0141 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.869+3926C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006343 | |||||||
| chr2:128006347 | T | C | 15 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0163 others(12): Show |
15 | HG02055.hp1 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.869+3922A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006347 | |||||||
| chr2:128006368 | T | C | 248 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(245): Show |
251 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(248): Show |
intron_variant | MODIFIER | c.869+3901A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006368 | |||||||
| chr2:128006384 | T | C | 99 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(96): Show |
99 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(96): Show |
intron_variant | MODIFIER | c.869+3885A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006384 | |||||||
| chr2:128006403 | A | G | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.869+3866T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006403 | |||||||
| chr2:128006554 | C | T | 1 | a0001c0001t0001g0163 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.869+3715G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006554 | |||||||
| chr2:128006648 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.869+3621C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006648 | |||||||
| chr2:128006794 | T | C | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.869+3475A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006794 | |||||||
| chr2:128006860 | G | C | 1 | a0001c0003t0001g0126 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.869+3409C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006860 | |||||||
| chr2:128006881 | G | C | 1 | a0001c0001t0001g0087 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.869+3388C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006881 | |||||||
| chr2:128006987 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+3282A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128006987 | |||||||
| chr2:128007084 | G | C | 1 | a0001c0001t0001g0305 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.869+3185C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128007084 | |||||||
| chr2:128007084 | G | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+3185C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128007084 | |||||||
| chr2:128007307 | A | G | 1 | a0001c0001t0001g0100 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.869+2962T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128007307 | |||||||
| chr2:128007678 | C | T | 2 | a0001c0001t0001g0165 a0001c0001t0001g0217 |
2 | HG01069.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.869+2591G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128007678 | |||||||
| chr2:128007849 | T | C | 3 | a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0001g0050 |
3 | HG01358.hp2 HG01975.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.869+2420A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128007849 | |||||||
| chr2:128008034 | C | T | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.869+2235G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008034 | |||||||
| chr2:128008133 | T | C | 1 | a0001c0003t0001g0113 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.869+2136A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008133 | |||||||
| chr2:128008173 | T | C | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.869+2096A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008173 | |||||||
| chr2:128008382 | CAG | C | 31 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(28): Show |
31 | HG00423.hp1 HG00438.hp1 HG01928.hp1 others(28): Show |
intron_variant | MODIFIER | c.869+1885_869+1886d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008382 | |||||||
| chr2:128008469 | G | A | 2 | a0001c0001t0001g0184 a0001c0001t0001g0185 |
2 | HG02895.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.869+1800C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008469 | |||||||
| chr2:128008502 | C | CTATA | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.869+1763_869+1766d others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008502 | |||||||
| chr2:128008528 | C | CT | 28 | a0001c0001t0001g0226 a0001c0003t0001g0103 a0001c0003t0001g0105 others(25): Show |
28 | HG00423.hp1 HG00438.hp1 HG01928.hp1 others(25): Show |
intron_variant | MODIFIER | c.869+1740dupA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008528 | |||||||
| chr2:128008528 | CT | C | 108 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(105): Show |
108 | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(105): Show |
intron_variant | MODIFIER | c.869+1740delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008528 | |||||||
| chr2:128008647 | G | A | 1 | a0002c0014t0001g0123 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.869+1622C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008647 | |||||||
| chr2:128008683 | CTGTT | C | 4 | a0001c0001t0001g0100 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show |
4 | HG02615.hp2 HG02818.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.869+1582_869+1585d others(6): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008683 | |||||||
| chr2:128008892 | C | T | 1 | a0001c0002t0001g0026 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.869+1377G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008892 | |||||||
| chr2:128008984 | C | A | 1 | a0001c0001t0001g0159 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.869+1285G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128008984 | |||||||
| chr2:128009142 | G | A | 1 | a0001c0015t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.869+1127C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009142 | |||||||
| chr2:128009234 | G | C | 1 | a0001c0001t0003g0340 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.869+1035C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009234 | |||||||
| chr2:128009576 | T | C | 1 | a0001c0001t0001g0267 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.869+693A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009576 | |||||||
| chr2:128009688 | C | A | 1 | a0001c0001t0001g0080 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.869+581G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009688 | |||||||
| chr2:128009732 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+537C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009732 | |||||||
| chr2:128009828 | C | A | 1 | a0001c0005t0006g0008 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.869+441G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009828 | |||||||
| chr2:128009866 | G | A | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.869+403C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009866 | |||||||
| chr2:128009981 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.869+288G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009981 | |||||||
| chr2:128009988 | T | C | 15 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0163 others(12): Show |
15 | HG02055.hp1 HG02572.hp1 HG02717.hp1 others(12): Show |
intron_variant | MODIFIER | c.869+281A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128009988 | |||||||
| chr2:128010160 | A | T | 2 | a0001c0001t0002g0187 a0001c0001t0002g0189 |
2 | HG02451.hp2 HG03195.hp2 |
intron_variant | MODIFIER | c.869+109T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128010160 | |||||||
| chr2:128010166 | A | G | 2 | a0001c0001t0001g0326 a0001c0001t0001g0327 |
2 | HG02109.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.869+103T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 7/20 | chr2 | 128010166 | |||||||
| chr2:128010419 | T | C | 1 | a0001c0002t0012g0047 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.745-26A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128010419 | |||||||
| chr2:128010585 | A | G | 97 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(94): Show |
97 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(94): Show |
intron_variant | MODIFIER | c.745-192T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128010585 | |||||||
| chr2:128010787 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.745-394G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128010787 | |||||||
| chr2:128010909 | T | TA | 31 | a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0107 others(28): Show |
31 | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(28): Show |
intron_variant | MODIFIER | c.745-517dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128010909 | |||||||
| chr2:128010951 | G | GA | 117 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(114): Show |
117 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(114): Show |
intron_variant | MODIFIER | c.745-559dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128010951 | |||||||
| chr2:128010951 | G | GAA | 6 | a0001c0002t0001g0022 a0001c0003t0001g0115 a0001c0003t0001g0124 others(3): Show |
6 | HG00408.hp1 HG01175.hp1 NA18981.hp2 others(3): Show |
intron_variant | MODIFIER | c.745-560_745-559dup others(2): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128010951 | |||||||
| chr2:128011049 | T | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.745-656A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011049 | |||||||
| chr2:128011103 | T | A | 1 | a0001c0001t0001g0160 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.745-710A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011103 | |||||||
| chr2:128011115 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.745-722C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011115 | |||||||
| chr2:128011296 | T | C | 1 | a0001c0002t0001g0049 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.745-903A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011296 | |||||||
| chr2:128011440 | C | T | 2 | a0001c0002t0001g0020 a0001c0002t0001g0026 |
2 | HG02738.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.745-1047G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011440 | |||||||
| chr2:128011472 | A | G | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.745-1079T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011472 | |||||||
| chr2:128011573 | G | A | 1 | a0001c0001t0002g0189 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.745-1180C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011573 | |||||||
| chr2:128011631 | G | A | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.745-1238C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011631 | |||||||
| chr2:128011666 | G | T | 11 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(8): Show |
11 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(8): Show |
intron_variant | MODIFIER | c.745-1273C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128011666 | |||||||
| chr2:128012027 | C | T | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.744+1003G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128012027 | |||||||
| chr2:128012154 | G | A | 31 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(28): Show |
31 | HG00423.hp1 HG00438.hp1 HG01928.hp1 others(28): Show |
intron_variant | MODIFIER | c.744+876C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128012154 | |||||||
| chr2:128012295 | T | C | 97 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(94): Show |
97 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(94): Show |
intron_variant | MODIFIER | c.744+735A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128012295 | |||||||
| chr2:128012450 | A | G | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
intron_variant | MODIFIER | c.744+580T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128012450 | |||||||
| chr2:128012611 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.744+419A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128012611 | |||||||
| chr2:128012671 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.744+359A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128012671 | |||||||
| chr2:128012852 | G | C | 1 | a0001c0002t0001g0050 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.744+178C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 6/20 | chr2 | 128012852 | |||||||
| chr2:128013157 | G | GA | 26 | a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 others(23): Show |
26 | HG00408.hp2 HG00438.hp2 HG00558.hp1 others(23): Show |
splice_region_variant&intron_variant | LOW | c.620-4dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128013157 | |||||||
| chr2:128013520 | C | G | 97 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(94): Show |
97 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(94): Show |
intron_variant | MODIFIER | c.620-366G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128013520 | |||||||
| chr2:128013528 | C | T | 1 | a0001c0002t0001g0035 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.620-374G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128013528 | |||||||
| chr2:128013800 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.620-646G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128013800 | |||||||
| chr2:128013933 | A | G | 1 | a0001c0001t0001g0141 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.620-779T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128013933 | |||||||
| chr2:128014094 | T | C | 2 | a0001c0002t0001g0023 a0001c0002t0001g0025 |
2 | HG00140.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.619+709A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014094 | |||||||
| chr2:128014130 | C | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.619+673G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014130 | |||||||
| chr2:128014224 | G | A | 2 | a0001c0001t0004g0009 a0001c0001t0004g0062 |
2 | HG01243.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.619+579C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014224 | |||||||
| chr2:128014232 | TTC | T | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.619+569_619+570del others(2): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014232 | |||||||
| chr2:128014364 | CATCTCAG others(21): Show |
C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.619+411_619+438del others(28): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014364 | |||||||
| chr2:128014392 | TATCTCAG others(21): Show |
T | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.619+383_619+410del others(28): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014392 | |||||||
| chr2:128014420 | C | T | 66 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(63): Show |
69 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(66): Show |
intron_variant | MODIFIER | c.619+383G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014420 | |||||||
| chr2:128014641 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.619+162A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014641 | |||||||
| chr2:128014642 | T | C | 1 | a0001c0002t0001g0067 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.619+161A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014642 | |||||||
| chr2:128014736 | C | T | 130 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(127): Show |
130 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.619+67G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014736 | |||||||
| chr2:128014737 | G | A | 1 | a0001c0001t0001g0262 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.619+66C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014737 | |||||||
| chr2:128014797 | C | T | 52 | a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0101 others(49): Show |
52 | HG00408.hp2 HG00558.hp1 HG00735.hp1 others(49): Show |
splice_region_variant&intron_variant | LOW | c.619+6G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014797 | |||||||
| chr2:128014798 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | splice_region_variant&intron_variant | LOW | c.619+5C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 5/20 | chr2 | 128014798 | |||||||
| chr2:128015100 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.508-186T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015100 | |||||||
| chr2:128015267 | C | T | 4 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(1): Show |
4 | HG00323.hp2 HG01192.hp2 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.508-353G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015267 | |||||||
| chr2:128015288 | T | C | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.508-374A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015288 | |||||||
| chr2:128015457 | T | C | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.508-543A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015457 | |||||||
| chr2:128015490 | G | T | 1 | a0001c0002t0001g0058 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.508-576C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015490 | |||||||
| chr2:128015574 | T | C | 2 | a0001c0001t0001g0161 a0001c0001t0001g0162 |
2 | HG01257.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.508-660A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015574 | |||||||
| chr2:128015589 | C | T | 3 | a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0124 |
3 | NA18964.hp1 NA18977.hp2 NA18981.hp2 |
intron_variant | MODIFIER | c.508-675G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015589 | |||||||
| chr2:128015713 | G | A | 1 | a0001c0001t0001g0204 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.507+676C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015713 | |||||||
| chr2:128015799 | G | A | 49 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(46): Show |
52 | HG00280.hp1 HG00639.hp2 HG00673.hp1 others(49): Show |
intron_variant | MODIFIER | c.507+590C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015799 | |||||||
| chr2:128015860 | G | A | 1 | a0001c0001t0001g0084 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.507+529C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015860 | |||||||
| chr2:128015868 | G | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.507+521C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015868 | |||||||
| chr2:128015870 | C | T | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.507+519G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015870 | |||||||
| chr2:128015882 | T | A | 248 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(245): Show |
251 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(248): Show |
intron_variant | MODIFIER | c.507+507A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015882 | |||||||
| chr2:128015940 | C | CA | 21 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(18): Show |
21 | HG01123.hp2 HG01175.hp2 HG01891.hp1 others(18): Show |
intron_variant | MODIFIER | c.507+448dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015940 | |||||||
| chr2:128015940 | C | CAA | 75 | a0001c0001t0001g0018 a0001c0001t0001g0060 a0001c0001t0001g0064 others(72): Show |
75 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(72): Show |
intron_variant | MODIFIER | c.507+447_507+448dup others(2): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015940 | |||||||
| chr2:128015991 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.507+398T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128015991 | |||||||
| chr2:128016002 | T | C | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.507+387A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016002 | |||||||
| chr2:128016068 | C | T | 2 | a0001c0001t0001g0274 a0001c0001t0001g0285 |
2 | HG01175.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.507+321G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016068 | |||||||
| chr2:128016070 | C | T | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.507+319G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016070 | |||||||
| chr2:128016081 | C | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.507+308G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016081 | |||||||
| chr2:128016113 | G | A | 1 | a0001c0002t0001g0067 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.507+276C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016113 | |||||||
| chr2:128016194 | A | G | 1 | a0001c0003t0008g0104 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.507+195T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016194 | |||||||
| chr2:128016275 | G | A | 1 | a0001c0002t0001g0029 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.507+114C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016275 | |||||||
| chr2:128016320 | A | G | 1 | a0001c0001t0001g0224 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.507+69T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016320 | |||||||
| chr2:128016358 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.507+31A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 4/20 | chr2 | 128016358 | |||||||
| chr2:128016748 | C | T | 3 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 |
3 | NA18941.hp2 NA19074.hp2 NA19088.hp1 |
intron_variant | MODIFIER | c.349-201G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/20 | chr2 | 128016748 | |||||||
| chr2:128016840 | T | G | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.349-293A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/20 | chr2 | 128016840 | |||||||
| chr2:128016854 | G | A | 10 | a0001c0003t0001g0116 a0001c0003t0001g0117 a0001c0003t0001g0118 others(7): Show |
10 | HG00438.hp1 HG00558.hp2 HG01928.hp1 others(7): Show |
intron_variant | MODIFIER | c.349-307C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/20 | chr2 | 128016854 | |||||||
| chr2:128017087 | T | C | 3 | a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0285 |
3 | HG01106.hp2 HG01175.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.349-540A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/20 | chr2 | 128017087 | |||||||
| chr2:128017347 | A | G | 130 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(127): Show |
130 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.348+333T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/20 | chr2 | 128017347 | |||||||
| chr2:128017614 | A | G | 1 | a0001c0001t0001g0072 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.348+66T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/20 | chr2 | 128017614 | |||||||
| chr2:128017629 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.348+51A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 3/20 | chr2 | 128017629 | |||||||
| chr2:128018122 | A | G | 2 | a0001c0001t0001g0138 a0001c0001t0001g0172 |
2 | HG02738.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.113-207T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018122 | |||||||
| chr2:128018313 | C | CA | 33 | a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0169 others(30): Show |
33 | HG00140.hp1 HG00323.hp1 HG00735.hp1 others(30): Show |
intron_variant | MODIFIER | c.113-399dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018313 | |||||||
| chr2:128018332 | C | A | 87 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(84): Show |
87 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(84): Show |
intron_variant | MODIFIER | c.113-417G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018332 | |||||||
| chr2:128018332 | C | CAAACCAA | 8 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(5): Show |
8 | HG01123.hp2 HG01891.hp1 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.113-424_113-418dup others(7): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018332 | |||||||
| chr2:128018336 | C | A | 1 | a0001c0002t0001g0051 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.113-421G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018336 | |||||||
| chr2:128018429 | G | A | 1 | a0001c0001t0001g0267 | 1 | NA19063.hp1 | intron_variant | MODIFIER | c.113-514C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018429 | |||||||
| chr2:128018483 | C | CA | 88 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(85): Show |
88 | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(85): Show |
intron_variant | MODIFIER | c.113-569dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAA | 45 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 others(42): Show |
47 | HG00140.hp1 HG00423.hp1 HG00558.hp2 others(44): Show |
intron_variant | MODIFIER | c.113-570_113-569dup others(2): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAAAAAAA others(7): Show |
1 | a0001c0004t0001g0093 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.113-582_113-569dup others(14): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAAAAAAA others(8): Show |
1 | a0001c0004t0001g0094 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.113-583_113-569dup others(15): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAAAAAAA others(9): Show |
4 | a0001c0004t0001g0092 a0001c0004t0001g0313 a0001c0007t0005g0310 others(1): Show |
4 | HG01175.hp1 HG03453.hp2 NA19030.hp1 others(1): Show |
intron_variant | MODIFIER | c.113-584_113-569dup others(16): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAAAAAAA others(10): Show |
2 | a0001c0004t0001g0095 a0001c0004t0001g0097 |
2 | HG02559.hp1 HG02818.hp2 |
intron_variant | MODIFIER | c.113-585_113-569dup others(17): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAAAAAAA others(15): Show |
1 | a0001c0004t0001g0089 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.113-590_113-569dup others(22): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAAAAAAA others(17): Show |
1 | a0001c0004t0001g0096 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.113-569_113-568ins others(24): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | C | CAAAAAAA others(19): Show |
2 | a0001c0004t0001g0090 a0001c0004t0001g0091 |
2 | HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.113-569_113-568ins others(26): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | CA | C | 17 | a0001c0001t0001g0098 a0001c0001t0001g0163 a0001c0001t0001g0164 others(14): Show |
17 | HG00735.hp1 HG01069.hp2 HG01243.hp2 others(14): Show |
intron_variant | MODIFIER | c.113-569delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018483 | CAA | C | 100 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(97): Show |
103 | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(100): Show |
intron_variant | MODIFIER | c.113-570_113-569del others(2): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018483 | |||||||
| chr2:128018544 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0192 |
2 | HG01891.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.113-629G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018544 | |||||||
| chr2:128018584 | G | A | 4 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0326 others(1): Show |
4 | HG02109.hp1 HG02723.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.113-669C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018584 | |||||||
| chr2:128018637 | T | G | 2 | a0001c0001t0001g0165 a0001c0001t0001g0217 |
2 | HG01069.hp1 HG01346.hp1 |
intron_variant | MODIFIER | c.113-722A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018637 | |||||||
| chr2:128018796 | C | CA | 18 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(15): Show |
18 | HG00408.hp1 HG01070.hp2 HG01168.hp1 others(15): Show |
intron_variant | MODIFIER | c.113-882dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018796 | |||||||
| chr2:128018924 | C | T | 1 | a0001c0004t0001g0092 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.113-1009G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018924 | |||||||
| chr2:128018959 | G | A | 32 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(29): Show |
32 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(29): Show |
intron_variant | MODIFIER | c.113-1044C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018959 | |||||||
| chr2:128018992 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.113-1077C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128018992 | |||||||
| chr2:128019154 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.113-1239T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019154 | |||||||
| chr2:128019256 | A | T | 1 | a0001c0001t0001g0223 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.113-1341T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019256 | |||||||
| chr2:128019268 | TA | T | 46 | a0001c0002t0001g0010 a0001c0002t0001g0019 a0001c0002t0001g0020 others(43): Show |
46 | HG00140.hp1 HG00323.hp1 HG00544.hp2 others(43): Show |
intron_variant | MODIFIER | c.113-1354delT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019268 | |||||||
| chr2:128019412 | C | A | 26 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(23): Show |
26 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(23): Show |
intron_variant | MODIFIER | c.113-1497G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019412 | |||||||
| chr2:128019416 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.113-1501A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019416 | |||||||
| chr2:128019425 | A | G | 248 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(245): Show |
251 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(248): Show |
intron_variant | MODIFIER | c.113-1510T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019425 | |||||||
| chr2:128019426 | C | T | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.113-1511G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019426 | |||||||
| chr2:128019608 | G | A | 1 | a0001c0001t0001g0167 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.113-1693C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019608 | |||||||
| chr2:128019763 | T | C | 1 | a0001c0001t0001g0168 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.113-1848A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019763 | |||||||
| chr2:128019923 | A | C | 1 | a0001c0001t0001g0080 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.113-2008T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128019923 | |||||||
| chr2:128020049 | C | A | 1 | a0001c0001t0001g0216 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.113-2134G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128020049 | |||||||
| chr2:128020597 | T | G | 5 | a0001c0001t0001g0102 a0001c0001t0001g0210 a0001c0001t0001g0211 others(2): Show |
5 | HG02273.hp1 NA18747.hp1 NA18979.hp2 others(2): Show |
intron_variant | MODIFIER | c.113-2682A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128020597 | |||||||
| chr2:128020828 | C | G | 4 | a0001c0001t0001g0100 a0001c0001t0001g0190 a0001c0001t0001g0191 others(1): Show |
4 | HG02615.hp2 HG02818.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.113-2913G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128020828 | |||||||
| chr2:128020940 | G | A | 1 | a0001c0002t0001g0058 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.113-3025C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128020940 | |||||||
| chr2:128020947 | G | A | 1 | a0001c0002t0001g0058 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.113-3032C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128020947 | |||||||
| chr2:128020982 | T | A | 1 | a0001c0004t0001g0097 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.113-3067A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128020982 | |||||||
| chr2:128021186 | A | T | 1 | a0001c0001t0001g0309 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.113-3271T>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021186 | |||||||
| chr2:128021264 | T | C | 1 | a0001c0001t0001g0015 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.113-3349A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021264 | |||||||
| chr2:128021272 | C | A | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.113-3357G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021272 | |||||||
| chr2:128021316 | G | A | 1 | a0001c0002t0001g0059 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.113-3401C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021316 | |||||||
| chr2:128021426 | G | A | 40 | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0326 others(37): Show |
40 | HG00323.hp1 HG00544.hp2 HG01099.hp2 others(37): Show |
intron_variant | MODIFIER | c.113-3511C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021426 | |||||||
| chr2:128021446 | C | CA | 21 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0068 others(18): Show |
21 | HG00323.hp2 HG01070.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.113-3532dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021446 | |||||||
| chr2:128021455 | A | C | 1 | a0001c0001t0001g0137 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.113-3540T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021455 | |||||||
| chr2:128021462 | C | A | 3 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0087 |
3 | HG01070.hp2 HG01261.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.113-3547G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021462 | |||||||
| chr2:128021529 | C | T | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.113-3614G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021529 | |||||||
| chr2:128021619 | A | G | 1 | a0001c0001t0001g0289 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.113-3704T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021619 | |||||||
| chr2:128021668 | A | C | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.113-3753T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021668 | |||||||
| chr2:128021782 | AT | A | 130 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(127): Show |
130 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(127): Show |
intron_variant | MODIFIER | c.113-3868delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128021782 | |||||||
| chr2:128022189 | C | T | 97 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(94): Show |
97 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(94): Show |
intron_variant | MODIFIER | c.112+3992G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022189 | |||||||
| chr2:128022213 | G | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.112+3968C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022213 | |||||||
| chr2:128022251 | C | T | 4 | a0001c0001t0002g0099 a0001c0001t0002g0187 a0001c0001t0002g0188 others(1): Show |
4 | HG02451.hp2 HG03130.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.112+3930G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022251 | |||||||
| chr2:128022414 | C | T | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.112+3767G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022414 | |||||||
| chr2:128022415 | G | A | 2 | a0001c0001t0001g0088 a0001c0001t0001g0214 |
2 | HG03098.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.112+3766C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022415 | |||||||
| chr2:128022516 | A | G | 84 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(81): Show |
intron_variant | MODIFIER | c.112+3665T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022516 | |||||||
| chr2:128022545 | T | C | 3 | a0001c0001t0001g0221 a0001c0001t0001g0286 a0001c0001t0001g0287 |
3 | NA18943.hp1 NA18955.hp2 NA19067.hp1 |
intron_variant | MODIFIER | c.112+3636A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022545 | |||||||
| chr2:128022599 | G | A | 26 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(23): Show |
26 | HG00323.hp2 HG01070.hp2 HG01168.hp1 others(23): Show |
intron_variant | MODIFIER | c.112+3582C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022599 | |||||||
| chr2:128022730 | T | C | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.112+3451A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022730 | |||||||
| chr2:128022779 | G | A | 4 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0309 others(1): Show |
4 | HG01884.hp1 HG02109.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.112+3402C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022779 | |||||||
| chr2:128022866 | G | A | 2 | a0001c0002t0001g0028 a0001c0002t0001g0029 |
2 | HG03239.hp2 HG03834.hp1 |
intron_variant | MODIFIER | c.112+3315C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022866 | |||||||
| chr2:128022872 | C | T | 1 | a0001c0001t0001g0068 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.112+3309G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022872 | |||||||
| chr2:128022935 | T | C | 1 | a0001c0001t0001g0288 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.112+3246A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022935 | |||||||
| chr2:128022996 | AT | A | 14 | a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0289 others(11): Show |
14 | HG00408.hp1 HG01496.hp2 HG02083.hp1 others(11): Show |
intron_variant | MODIFIER | c.112+3184delA | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128022996 | |||||||
| chr2:128023016 | C | T | 1 | a0001c0001t0001g0222 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.112+3165G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023016 | |||||||
| chr2:128023119 | C | T | 1 | a0001c0001t0001g0186 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.112+3062G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023119 | |||||||
| chr2:128023120 | G | A | 1 | a0001c0001t0001g0322 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.112+3061C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023120 | |||||||
| chr2:128023127 | C | T | 1 | a0001c0001t0001g0221 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.112+3054G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023127 | |||||||
| chr2:128023128 | G | T | 1 | a0001c0002t0001g0019 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.112+3053C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023128 | |||||||
| chr2:128023140 | A | G | 6 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 others(3): Show |
6 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.112+3041T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023140 | |||||||
| chr2:128023319 | T | C | 1 | a0001c0001t0001g0335 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.112+2862A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023319 | |||||||
| chr2:128023452 | C | G | 1 | a0001c0015t0001g0063 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.112+2729G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023452 | |||||||
| chr2:128023498 | C | T | 2 | a0001c0001t0001g0220 a0001c0011t0013g0325 |
2 | HG00408.hp1 HG01106.hp1 |
intron_variant | MODIFIER | c.112+2683G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023498 | |||||||
| chr2:128023550 | C | T | 1 | a0001c0001t0001g0219 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.112+2631G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023550 | |||||||
| chr2:128023617 | A | C | 1 | a0001c0001t0001g0179 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.112+2564T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023617 | |||||||
| chr2:128023733 | T | C | 3 | a0001c0007t0005g0310 a0001c0007t0005g0311 a0001c0011t0013g0325 |
3 | HG00408.hp1 HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.112+2448A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023733 | |||||||
| chr2:128023779 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.112+2402T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023779 | |||||||
| chr2:128023847 | T | C | 1 | a0001c0001t0001g0297 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.112+2334A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023847 | |||||||
| chr2:128023890 | G | A | 1 | a0001c0001t0001g0306 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.112+2291C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023890 | |||||||
| chr2:128023907 | T | TTATTCTA others(23): Show |
2 | a0001c0001t0001g0172 a0001c0001t0001g0173 |
2 | HG02738.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.112+2244_112+2273d others(32): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023907 | |||||||
| chr2:128023928 | T | A | 98 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(95): Show |
98 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.112+2253A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023928 | |||||||
| chr2:128023930 | C | T | 98 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(95): Show |
98 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.112+2251G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023930 | |||||||
| chr2:128023931 | TCTAGAA | T | 98 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(95): Show |
98 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.112+2244_112+2249d others(8): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023931 | |||||||
| chr2:128023939 | A | C | 98 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(95): Show |
98 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.112+2242T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128023939 | |||||||
| chr2:128024058 | CAA | C | 31 | a0001c0003t0001g0103 a0001c0003t0001g0105 a0001c0003t0001g0106 others(28): Show |
31 | HG00423.hp1 HG00438.hp1 HG00558.hp2 others(28): Show |
intron_variant | MODIFIER | c.112+2121_112+2122d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024058 | |||||||
| chr2:128024266 | G | T | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.112+1915C>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024266 | |||||||
| chr2:128024366 | T | C | 3 | a0001c0001t0004g0009 a0001c0001t0004g0061 a0001c0001t0004g0062 |
3 | HG01243.hp1 HG02486.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.112+1815A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024366 | |||||||
| chr2:128024384 | C | T | 2 | a0001c0001t0001g0133 a0001c0001t0014g0134 |
2 | HG02280.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.112+1797G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024384 | |||||||
| chr2:128024550 | C | T | 14 | a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0021 others(11): Show |
14 | HG00140.hp1 HG00323.hp1 HG00639.hp1 others(11): Show |
intron_variant | MODIFIER | c.112+1631G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024550 | |||||||
| chr2:128024693 | C | T | 4 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0309 others(1): Show |
4 | HG01884.hp1 HG02109.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.112+1488G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024693 | |||||||
| chr2:128024714 | G | GA | 113 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(110): Show |
116 | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(113): Show |
intron_variant | MODIFIER | c.112+1466dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024714 | |||||||
| chr2:128024714 | G | GAA | 6 | a0001c0001t0001g0102 a0001c0001t0001g0216 a0001c0001t0001g0314 others(3): Show |
6 | HG02055.hp1 HG02723.hp1 NA18949.hp2 others(3): Show |
intron_variant | MODIFIER | c.112+1465_112+1466d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024714 | |||||||
| chr2:128024806 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.112+1375C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128024806 | |||||||
| chr2:128025003 | C | CA | 167 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(164): Show |
170 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(167): Show |
intron_variant | MODIFIER | c.112+1177dupT | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025003 | |||||||
| chr2:128025003 | C | CAA | 82 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0064 others(79): Show |
82 | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(79): Show |
intron_variant | MODIFIER | c.112+1176_112+1177d others(4): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025003 | |||||||
| chr2:128025108 | T | G | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.112+1073A>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025108 | |||||||
| chr2:128025115 | G | A | 1 | a0001c0001t0001g0217 | 1 | HG01069.hp1 | intron_variant | MODIFIER | c.112+1066C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025115 | |||||||
| chr2:128025392 | C | T | 3 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 |
3 | HG01123.hp2 HG01891.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.112+789G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025392 | |||||||
| chr2:128025428 | A | C | 1 | a0001c0001t0003g0340 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.112+753T>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025428 | |||||||
| chr2:128025526 | A | G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.112+655T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025526 | |||||||
| chr2:128025662 | T | C | 10 | a0001c0004t0001g0089 a0001c0004t0001g0090 a0001c0004t0001g0091 others(7): Show |
10 | HG01123.hp2 HG01891.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.112+519A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025662 | |||||||
| chr2:128025752 | A | G | 98 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(95): Show |
98 | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(95): Show |
intron_variant | MODIFIER | c.112+429T>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 2/20 | chr2 | 128025752 | |||||||
| chr2:128026548 | T | C | 1 | a0001c0008t0001g0218 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.-6-250A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026548 | |||||||
| chr2:128026560 | CACCATTG others(8): Show |
C | 1 | a0001c0001t0001g0219 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.-6-277_-6-263delAC others(13): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026560 | |||||||
| chr2:128026577 | C | G | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-6-279G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026577 | |||||||
| chr2:128026621 | C | T | 2 | a0001c0001t0001g0016 a0001c0001t0001g0017 |
2 | HG01070.hp2 HG01261.hp2 |
intron_variant | MODIFIER | c.-6-323G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026621 | |||||||
| chr2:128026750 | C | G | 248 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(245): Show |
251 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(248): Show |
intron_variant | MODIFIER | c.-6-452G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026750 | |||||||
| chr2:128026832 | C | T | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 others(2): Show |
5 | HG02258.hp1 HG03041.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.-6-534G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026832 | |||||||
| chr2:128026838 | T | C | 1 | a0001c0001t0001g0308 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.-6-540A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026838 | |||||||
| chr2:128026944 | G | C | 1 | a0001c0001t0001g0309 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.-6-646C>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128026944 | |||||||
| chr2:128027017 | C | A | 2 | a0001c0007t0005g0310 a0001c0007t0005g0311 |
2 | HG01175.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.-6-719G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027017 | |||||||
| chr2:128027057 | G | A | 1 | a0001c0001t0001g0312 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-6-759C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027057 | |||||||
| chr2:128027293 | C | T | 1 | a0001c0001t0001g0328 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-7+647G>A | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027293 | |||||||
| chr2:128027389 | G | A | 1 | a0001c0004t0001g0313 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-7+551C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027389 | |||||||
| chr2:128027397 | C | A | 9 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 others(6): Show |
9 | HG00735.hp1 HG01884.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.-7+543G>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027397 | |||||||
| chr2:128027409 | T | C | 1 | a0001c0001t0001g0323 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-7+531A>G | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027409 | |||||||
| chr2:128027605 | C | G | 1 | a0001c0002t0001g0010 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.-7+335G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027605 | |||||||
| chr2:128027622 | GCCGCCCG others(5): Show |
G | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.-7+306_-7+317delGC others(10): Show |
SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027622 | |||||||
| chr2:128027656 | G | A | 1 | a0001c0010t0001g0324 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.-7+284C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027656 | |||||||
| chr2:128027664 | G | A | 1 | a0001c0011t0013g0325 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.-7+276C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027664 | |||||||
| chr2:128027720 | T | A | 2 | a0001c0001t0001g0326 a0001c0001t0001g0327 |
2 | HG02109.hp1 HG02723.hp2 |
intron_variant | MODIFIER | c.-7+220A>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027720 | |||||||
| chr2:128027772 | C | G | 1 | a0001c0001t0004g0009 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-7+168G>C | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027772 | |||||||
| chr2:128027798 | G | A | 11 | a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 others(8): Show |
11 | HG02055.hp1 HG02572.hp1 HG02717.hp1 others(8): Show |
intron_variant | MODIFIER | c.-7+142C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027798 | |||||||
| chr2:128027846 | G | A | 1 | a0001c0001t0001g0339 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.-7+94C>T | SAP130 | ENSG00000136715.19 | transcript | ENST00000643581.2 | protein_coding | 1/20 | chr2 | 128027846 |