Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 2969 |
| ensemblid | ENSG00000263001.8 |
| hgncid | 4659 |
| symbol | GTF2I |
| name | general transcription factor IIi |
| refseq_nuc | NM_032999.4 |
| refseq_prot | NP_127492.1 |
| ensembl_nuc | ENST00000573035.6 |
| ensembl_prot | ENSP00000460070.1 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 74657718 |
| end | 74760692 |
| strand | + |
| ver | v1.2 |
| region | chr7:74657718-74760692 |
| region5000 | chr7:74652718-74765692 |
| regionname0 | GTF2I_chr7_74657718_74760692 |
| regionname5000 | GTF2I_chr7_74652718_74765692 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 998 | 170 | 70 | 35 | 33 | 10 | 20 | 23 | GTF2I_chr7_74652718_74765692 | GTF2I | MAQVA others(993): Show |
chr7 | 74652718 | 74765692 |
| a0002 | 0/0 | 998 | 3 | 2 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | MAQVA others(993): Show |
chr7 | 74652718 | 74765692 |
| a0003 | 0/0 | 998 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | MAQVA others(993): Show |
chr7 | 74652718 | 74765692 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 2994 | 140 | 62 | 29 | 29 | 7 | 13 | GTF2I_chr7_74652718_74765692 | GTF2I | ATGGC others(2989): Show |
chr7 | 74652718 | 74765692 | ||
| a0001c0002 | 1/1 | 2994 | 26 | 6 | 6 | 3 | 2 | 7 | GTF2I_chr7_74652718_74765692 | GTF2I | ATGGC others(2989): Show |
chr7 | 74652718 | 74765692 | ||
| a0001c0004 | 0/0 | 2994 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | ATGGC others(2989): Show |
chr7 | 74652718 | 74765692 | ||
| a0001c0005 | 0/0 | 2994 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | ATGGC others(2989): Show |
chr7 | 74652718 | 74765692 | ||
| a0001c0007 | 0/0 | 2994 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | ATGGC others(2989): Show |
chr7 | 74652718 | 74765692 | ||
| a0002c0003 | 0/0 | 2994 | 3 | 2 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | ATGGC others(2989): Show |
chr7 | 74652718 | 74765692 | ||
| a0003c0006 | 0/0 | 2994 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | ATGGC others(2989): Show |
chr7 | 74652718 | 74765692 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 4515 | 52 | 35 | 5 | 7 | 3 | 2 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0001t0002 | 0/0 | 4515 | 75 | 21 | 20 | 19 | 4 | 11 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0001t0003 | 0/0 | 4515 | 6 | 1 | 3 | 2 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0001t0004 | 0/0 | 4516 | 4 | 4 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4511): Show |
chr7 | 74652718 | 74765692 |
| a0001c0001t0005 | 0/0 | 4515 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0001t0006 | 0/0 | 4515 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0001t0007 | 0/0 | 4515 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0002t0001 | 1/1 | 4515 | 26 | 6 | 6 | 3 | 2 | 7 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0004t0001 | 0/0 | 4515 | 2 | 2 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0005t0002 | 0/0 | 4515 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0001c0007t0002 | 0/0 | 4515 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0002c0003t0001 | 0/0 | 4515 | 3 | 2 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| a0003c0006t0001 | 0/0 | 4515 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | GAGAG others(4510): Show |
chr7 | 74652718 | 74765692 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0080 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0083 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0013 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0040 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0124 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0125 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0136 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0138 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0141 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0142 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0144 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0145 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0150 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0163 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0002g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0019 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0003g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0005g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0006g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0001t0007g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0004 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0094 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0107 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0112 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0115 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0002t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0004t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0004t0001g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0005t0002g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0001c0007t0002g0036 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0002c0003t0001g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0002c0003t0001g0009 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0002c0003t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| a0003c0006t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0002 | g0141 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00099 | hp2 | a0001 | c0002 | t0001 | g0108 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0090 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00140 | hp2 | a0001 | c0001 | t0002 | g0162 | EUR | GBR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0166 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00639 | hp2 | a0001 | c0001 | t0001 | g0081 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00673 | hp1 | a0001 | c0001 | t0002 | g0159 | EAS | CHS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0077 | EAS | CHS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00735 | hp1 | a0001 | c0001 | t0001 | g0093 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00735 | hp2 | a0001 | c0001 | t0002 | g0041 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00738 | hp1 | a0001 | c0001 | t0007 | g0149 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0150 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01070 | hp1 | a0001 | c0001 | t0002 | g0147 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01070 | hp2 | a0001 | c0001 | t0003 | g0020 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01071 | hp2 | a0001 | c0001 | t0003 | g0018 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0011 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01074 | hp2 | a0002 | c0003 | t0001 | g0009 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0070 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01109 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0014 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01168 | hp2 | a0001 | c0002 | t0001 | g0115 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01169 | hp1 | a0001 | c0002 | t0001 | g0111 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01169 | hp2 | a0001 | c0001 | t0001 | g0089 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0161 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0113 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0164 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0127 | AMR | PUR | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01256 | hp1 | a0001 | c0002 | t0001 | g0116 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0140 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0040 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01258 | hp2 | a0001 | c0002 | t0001 | g0117 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01346 | hp1 | a0001 | c0001 | t0003 | g0017 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0154 | AMR | CLM | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01515 | hp1 | a0001 | c0007 | t0002 | g0036 | EUR | IBS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01515 | hp2 | a0001 | c0002 | t0001 | g0100 | EUR | IBS | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01891 | hp1 | a0001 | c0001 | t0002 | g0121 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01891 | hp2 | a0001 | c0001 | t0004 | g0022 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0092 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0130 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01993 | hp1 | a0001 | c0001 | t0002 | g0146 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG01993 | hp2 | a0001 | c0002 | t0001 | g0106 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0066 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0169 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02056 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02056 | hp2 | a0001 | c0001 | t0002 | g0173 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02071 | hp1 | a0001 | c0001 | t0003 | g0019 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0170 | EAS | KHV | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0045 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02148 | hp1 | a0001 | c0001 | t0002 | g0157 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0129 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02155 | hp1 | a0001 | c0001 | t0002 | g0156 | EAS | CDX | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02155 | hp2 | a0001 | c0001 | t0002 | g0035 | EAS | CDX | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02258 | hp1 | a0001 | c0001 | t0001 | g0052 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0086 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02280 | hp1 | a0001 | c0001 | t0004 | g0024 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0083 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0134 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0015 | AMR | PEL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0059 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0028 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02572 | hp1 | a0001 | c0001 | t0004 | g0023 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0076 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02615 | hp1 | a0001 | c0001 | t0002 | g0128 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02615 | hp2 | a0001 | c0002 | t0001 | g0098 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0007 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0058 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0080 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0042 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02723 | hp1 | a0001 | c0001 | t0001 | g0060 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0065 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02735 | hp1 | a0001 | c0001 | t0002 | g0138 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0050 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02818 | hp1 | a0001 | c0001 | t0002 | g0125 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02818 | hp2 | a0001 | c0001 | t0002 | g0047 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0055 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02895 | hp1 | a0001 | c0001 | t0002 | g0048 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0005 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02896 | hp1 | a0001 | c0001 | t0002 | g0126 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02896 | hp2 | a0002 | c0003 | t0001 | g0008 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0006 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02897 | hp2 | a0001 | c0001 | t0002 | g0123 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0043 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0068 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02965 | hp1 | a0001 | c0001 | t0002 | g0039 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02965 | hp2 | a0001 | c0002 | t0001 | g0095 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03017 | hp1 | a0001 | c0002 | t0001 | g0101 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03017 | hp2 | a0001 | c0001 | t0002 | g0153 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0054 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03041 | hp2 | a0001 | c0001 | t0002 | g0031 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03098 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03098 | hp2 | a0001 | c0001 | t0002 | g0049 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0064 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03130 | hp2 | a0001 | c0001 | t0003 | g0025 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03139 | hp1 | a0001 | c0002 | t0001 | g0096 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03139 | hp2 | a0001 | c0001 | t0001 | g0071 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03195 | hp1 | a0001 | c0001 | t0001 | g0027 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03195 | hp2 | a0001 | c0001 | t0006 | g0072 | AFR | ESN | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0056 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03209 | hp2 | a0001 | c0001 | t0004 | g0026 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03225 | hp1 | a0001 | c0004 | t0001 | g0082 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03225 | hp2 | a0001 | c0001 | t0002 | g0122 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03239 | hp1 | a0001 | c0001 | t0002 | g0105 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03239 | hp2 | a0001 | c0001 | t0002 | g0145 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0044 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03490 | hp1 | a0001 | c0002 | t0001 | g0002 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03490 | hp2 | a0001 | c0001 | t0002 | g0144 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0143 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0033 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0051 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03540 | hp2 | a0002 | c0003 | t0001 | g0010 | AFR | GWD | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0142 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0088 | SAS | PJL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03831 | hp1 | a0001 | c0001 | t0002 | g0148 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03831 | hp2 | a0001 | c0002 | t0001 | g0102 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03927 | hp1 | a0001 | c0002 | t0001 | g0004 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03927 | hp2 | a0001 | c0001 | t0002 | g0013 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04184 | hp1 | a0001 | c0002 | t0001 | g0003 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04184 | hp2 | a0001 | c0002 | t0001 | g0109 | SAS | BEB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04228 | hp1 | a0001 | c0002 | t0001 | g0112 | SAS | STU | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG04228 | hp2 | a0001 | c0001 | t0002 | g0151 | SAS | STU | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0067 | AFR | YRI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18522 | hp2 | a0001 | c0001 | t0002 | g0046 | AFR | YRI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0135 | EAS | CHB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18612 | hp2 | a0001 | c0002 | t0001 | g0174 | EAS | CHB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18946 | hp1 | a0001 | c0002 | t0001 | g0099 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0136 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18947 | hp1 | a0001 | c0001 | t0002 | g0155 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18947 | hp2 | a0001 | c0001 | t0002 | g0132 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18949 | hp1 | a0001 | c0001 | t0002 | g0172 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18949 | hp2 | a0001 | c0002 | t0001 | g0114 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0061 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0171 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0034 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18964 | hp2 | a0001 | c0001 | t0002 | g0158 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18973 | hp1 | a0001 | c0001 | t0002 | g0168 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18973 | hp2 | a0001 | c0001 | t0005 | g0118 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18979 | hp1 | a0001 | c0005 | t0002 | g0165 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA18979 | hp2 | a0001 | c0001 | t0003 | g0016 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19002 | hp1 | a0001 | c0001 | t0002 | g0137 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19002 | hp2 | a0001 | c0001 | t0002 | g0152 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19012 | hp1 | a0001 | c0001 | t0002 | g0160 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0037 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0063 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19056 | hp2 | a0003 | c0006 | t0001 | g0133 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19065 | hp1 | a0001 | c0001 | t0002 | g0167 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19082 | hp1 | a0001 | c0001 | t0002 | g0131 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0057 | EAS | JPT | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0091 | AFR | ASW | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0053 | AFR | ASW | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0119 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0139 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0163 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0087 | EUR | TSI | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02109 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0124 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02486 | hp1 | a0001 | c0002 | t0001 | g0110 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02486 | hp2 | a0001 | c0001 | t0001 | g0075 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0038 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0103 | AFR | ACB | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03471 | hp1 | a0001 | c0002 | t0001 | g0097 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| HG03471 | hp2 | a0001 | c0001 | t0002 | g0032 | AFR | MSL | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| NA21309 | hp2 | a0001 | c0004 | t0001 | g0104 | AFR | LWK | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| homoSapiens | chm13v2 | a0001 | c0002 | t0001 | g0094 | REF | REF | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0107 | REF | REF | GTF2I_chr7_74652718_74765692 | GTF2I | chr7 | 74652718 | 74765692 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74728861 | A | G | 1 | a0002 | 3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
missense_variant | MODERATE | c.1019A>G | p.Asn340Ser | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/35 | 1375/4515 | 1019/2997 | 340/998 | chr7 | 74728861 | |||
| chr7:74749412 | T | C | 1 | a0003 | 1 | NA19056.hp2 | missense_variant | MODERATE | c.2381T>C | p.Ile794Thr | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/35 | 2737/4515 | 2381/2997 | 794/998 | chr7 | 74749412 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74735489 | T | A | 1 | a0001c0005 | 1 | NA18979.hp1 | synonymous_variant | LOW | c.1392T>A | p.Thr464Thr | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/35 | 1748/4515 | 1392/2997 | 464/998 | chr7 | 74735489 | |||
| chr7:74753158 | C | T | 1 | a0001c0004 | 2 | HG03225.hp1 NA21309.hp2 |
synonymous_variant | LOW | c.2622C>T | p.Asp874Asp | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/35 | 2978/4515 | 2622/2997 | 874/998 | chr7 | 74753158 | |||
| chr7:74753919 | A | G | 6 | a0001c0001 a0001c0004 a0001c0005 others(3): Show |
148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
synonymous_variant | LOW | c.2715A>G | p.Val905Val | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/35 | 3071/4515 | 2715/2997 | 905/998 | chr7 | 74753919 | |||
| chr7:74754021 | G | A | 1 | a0001c0007 | 1 | HG01515.hp1 | synonymous_variant | LOW | c.2817G>A | p.Thr939Thr | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/35 | 3173/4515 | 2817/2997 | 939/998 | chr7 | 74754021 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74657836 | C | A | 1 | a0001c0001t0005 | 1 | NA18973.hp2 | 5_prime_UTR_variant | MODIFIER | c.-238C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/35 | 31293 | chr7 | 74657836 | ||||||
| chr7:74758851 | C | T | 1 | a0001c0001t0003 | 6 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*13C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/35 | 13 | chr7 | 74758851 | ||||||
| chr7:74758852 | T | A | 1 | a0001c0001t0006 | 1 | HG03195.hp2 | 3_prime_UTR_variant | MODIFIER | c.*14T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/35 | 14 | chr7 | 74758852 | ||||||
| chr7:74759825 | T | G | 4 | a0001c0001t0002 a0001c0001t0007 a0001c0005t0002 others(1): Show |
78 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(75): Show |
3_prime_UTR_variant | MODIFIER | c.*295T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 987 | chr7 | 74759825 | ||||||
| chr7:74760078 | G | GT | 1 | a0001c0001t0004 | 4 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*555dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 1248 | INFO_REALIGN_3_PRIME | chr7 | 74760078 | |||||
| chr7:74760242 | G | A | 1 | a0001c0001t0003 | 1 | HG03130.hp2 | 3_prime_UTR_variant | MODIFIER | c.*712G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 1404 | chr7 | 74760242 | ||||||
| chr7:74760558 | T | G | 1 | a0001c0001t0007 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1028T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 35/35 | 1720 | chr7 | 74760558 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74658277 | C | A | 1 | a0001c0002t0001g0001 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.-6+209C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658277 | |||||||
| chr7:74658535 | G | C | 3 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG03490.hp1 HG03927.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-6+467G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658535 | |||||||
| chr7:74658543 | G | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+475G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658543 | |||||||
| chr7:74658827 | G | T | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-6+759G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74658827 | |||||||
| chr7:74659028 | G | A | 5 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(2): Show |
5 | HG01071.hp1 HG01074.hp1 HG01168.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+960G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659028 | |||||||
| chr7:74659066 | G | GCTGA | 45 | a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 others(42): Show |
45 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(42): Show |
intron_variant | MODIFIER | c.-6+1001_-6+1004dup others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74659066 | ||||||
| chr7:74659158 | A | G | 8 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(5): Show |
8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+1090A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659158 | |||||||
| chr7:74659188 | G | T | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-6+1120G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659188 | |||||||
| chr7:74659260 | G | A | 145 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.-6+1192G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659260 | |||||||
| chr7:74659394 | A | AT | 8 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(5): Show |
8 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+1339dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74659394 | ||||||
| chr7:74659534 | C | T | 1 | a0001c0001t0002g0173 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-6+1466C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659534 | |||||||
| chr7:74659789 | C | T | 40 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(37): Show |
40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.-6+1721C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74659789 | |||||||
| chr7:74660181 | T | TC | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+2113_-6+2114ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660181 | |||||||
| chr7:74660621 | C | CT | 79 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 others(76): Show |
79 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.-6+2568dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74660621 | ||||||
| chr7:74660621 | CT | C | 6 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(3): Show |
6 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6+2568delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74660621 | ||||||
| chr7:74660661 | G | A | 2 | a0001c0001t0001g0029 a0001c0001t0001g0030 |
2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.-6+2593G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660661 | |||||||
| chr7:74660710 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+2642C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660710 | |||||||
| chr7:74660781 | C | T | 1 | a0001c0001t0002g0015 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.-6+2713C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74660781 | |||||||
| chr7:74661682 | A | AAAAAAT | 145 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.-6+3625_-6+3630dup others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74661682 | ||||||
| chr7:74661847 | G | A | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-6+3779G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74661847 | |||||||
| chr7:74662009 | A | G | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-6+3941A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662009 | |||||||
| chr7:74662156 | G | A | 77 | a0001c0001t0001g0044 a0001c0001t0002g0011 a0001c0001t0002g0012 others(74): Show |
77 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(74): Show |
intron_variant | MODIFIER | c.-6+4088G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662156 | |||||||
| chr7:74662204 | CT | C | 50 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0052 others(47): Show |
50 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(47): Show |
intron_variant | MODIFIER | c.-6+4163delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | ||||||
| chr7:74662204 | CTT | C | 12 | a0001c0001t0001g0021 a0001c0001t0001g0060 a0001c0001t0001g0061 others(9): Show |
12 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(9): Show |
intron_variant | MODIFIER | c.-6+4162_-6+4163del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | ||||||
| chr7:74662204 | CTTTTTTT | C | 7 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 others(4): Show |
7 | HG02145.hp1 HG02615.hp1 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-6+4157_-6+4163del others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | ||||||
| chr7:74662204 | CTTTTTTT others(1): Show |
C | 74 | a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0002g0011 others(71): Show |
74 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(71): Show |
intron_variant | MODIFIER | c.-6+4156_-6+4163del others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | ||||||
| chr7:74662204 | CTTTTTTT others(4): Show |
C | 1 | a0001c0001t0001g0059 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-6+4153_-6+4163del others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662204 | ||||||
| chr7:74662251 | G | T | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG00639.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.-6+4183G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662251 | |||||||
| chr7:74662511 | C | CTTT | 40 | a0001c0001t0001g0050 a0001c0001t0001g0077 a0001c0001t0002g0011 others(37): Show |
40 | HG00099.hp1 HG00673.hp1 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.-6+4470_-6+4472dup others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTT | 22 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 others(19): Show |
22 | HG00140.hp2 HG00639.hp1 HG00735.hp2 others(19): Show |
intron_variant | MODIFIER | c.-6+4469_-6+4472dup others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTT | 8 | a0001c0001t0001g0044 a0001c0001t0002g0042 a0001c0001t0002g0043 others(5): Show |
8 | HG02145.hp2 HG02630.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+4468_-6+4472dup others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTTT | 8 | a0001c0001t0001g0021 a0001c0001t0002g0048 a0001c0001t0002g0123 others(5): Show |
8 | HG01192.hp2 HG02109.hp2 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.-6+4467_-6+4472dup others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTTTT others(3): Show |
1 | a0001c0001t0001g0054 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.-6+4463_-6+4472dup others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTTTT others(4): Show |
11 | a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0056 others(8): Show |
11 | HG00140.hp1 HG01169.hp2 HG02886.hp2 others(8): Show |
intron_variant | MODIFIER | c.-6+4462_-6+4472dup others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTTTT others(5): Show |
4 | a0001c0001t0001g0058 a0001c0001t0001g0078 a0001c0001t0001g0085 others(1): Show |
4 | HG01978.hp1 HG02622.hp2 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.-6+4461_-6+4472dup others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTTTT others(6): Show |
1 | a0001c0001t0001g0079 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.-6+4460_-6+4472dup others(13): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTTTT others(7): Show |
1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-6+4459_-6+4472dup others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | C | CTTTTTTT others(9): Show |
1 | a0001c0001t0001g0062 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.-6+4457_-6+4472dup others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | CT | C | 8 | a0001c0001t0001g0005 a0001c0001t0003g0016 a0001c0001t0003g0017 others(5): Show |
8 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(5): Show |
intron_variant | MODIFIER | c.-6+4472delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | CTT | C | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+4471_-6+4472del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662511 | CTTTTTTT | C | 20 | a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0064 others(17): Show |
20 | HG00639.hp2 HG01109.hp1 HG02055.hp1 others(17): Show |
intron_variant | MODIFIER | c.-6+4466_-6+4472del others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74662511 | ||||||
| chr7:74662569 | C | T | 42 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(39): Show |
42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.-6+4501C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662569 | |||||||
| chr7:74662604 | C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-6+4536C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662604 | |||||||
| chr7:74662852 | A | G | 2 | a0001c0001t0001g0027 a0001c0001t0001g0028 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-6+4784A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74662852 | |||||||
| chr7:74663220 | G | A | 3 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-6+5152G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663220 | |||||||
| chr7:74663385 | A | G | 40 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(37): Show |
40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.-6+5317A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663385 | |||||||
| chr7:74663440 | C | G | 2 | a0001c0002t0001g0101 a0001c0002t0001g0102 |
2 | HG03017.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.-6+5372C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663440 | |||||||
| chr7:74663551 | C | T | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-6+5483C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663551 | |||||||
| chr7:74663745 | C | A | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-6+5677C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663745 | |||||||
| chr7:74663978 | C | T | 1 | a0001c0002t0001g0100 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.-6+5910C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74663978 | |||||||
| chr7:74664741 | A | G | 1 | a0001c0001t0002g0159 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.-6+6673A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74664741 | |||||||
| chr7:74665016 | C | T | 1 | a0001c0001t0002g0127 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.-6+6948C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665016 | |||||||
| chr7:74665332 | A | G | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.-6+7264A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665332 | |||||||
| chr7:74665386 | G | A | 1 | a0001c0001t0001g0059 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.-6+7318G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665386 | |||||||
| chr7:74665661 | G | T | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-6+7593G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665661 | |||||||
| chr7:74665865 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+7797C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74665865 | |||||||
| chr7:74666523 | T | C | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-6+8455T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74666523 | |||||||
| chr7:74666530 | C | CT | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+8462_-6+8463ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74666530 | |||||||
| chr7:74666811 | CA | C | 86 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(83): Show |
86 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(83): Show |
intron_variant | MODIFIER | c.-6+8762delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74666811 | ||||||
| chr7:74666811 | CAA | C | 42 | a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0053 others(39): Show |
42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.-6+8761_-6+8762del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74666811 | ||||||
| chr7:74667016 | G | A | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-6+8948G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667016 | |||||||
| chr7:74667075 | G | T | 82 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 others(79): Show |
82 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(79): Show |
intron_variant | MODIFIER | c.-6+9007G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667075 | |||||||
| chr7:74667222 | A | G | 3 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG03490.hp1 HG03927.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-6+9154A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667222 | |||||||
| chr7:74667536 | G | A | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 |
3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-6+9468G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667536 | |||||||
| chr7:74667656 | C | T | 2 | a0001c0001t0002g0158 a0001c0001t0002g0171 |
2 | NA18960.hp2 NA18964.hp2 |
intron_variant | MODIFIER | c.-6+9588C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667656 | |||||||
| chr7:74667682 | G | T | 3 | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 |
3 | HG03490.hp1 HG03927.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.-6+9614G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667682 | |||||||
| chr7:74667836 | C | CT | 6 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(3): Show |
6 | HG01256.hp1 HG01258.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+9784dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74667836 | ||||||
| chr7:74667876 | C | T | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.-6+9808C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667876 | |||||||
| chr7:74667981 | G | A | 1 | a0001c0001t0002g0162 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.-6+9913G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74667981 | |||||||
| chr7:74668026 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+9958G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668026 | |||||||
| chr7:74668055 | G | A | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+9987G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668055 | |||||||
| chr7:74668173 | C | CT | 84 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(81): Show |
84 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.-6+10128dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668173 | ||||||
| chr7:74668173 | C | CTT | 7 | a0001c0001t0001g0076 a0001c0001t0002g0013 a0001c0001t0002g0031 others(4): Show |
7 | HG02559.hp1 HG02572.hp2 HG03041.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6+10127_-6+10128d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668173 | ||||||
| chr7:74668173 | CT | C | 10 | a0001c0001t0001g0087 a0001c0001t0001g0119 a0001c0001t0001g0120 others(7): Show |
10 | HG01071.hp2 HG01346.hp1 HG02071.hp1 others(7): Show |
intron_variant | MODIFIER | c.-6+10128delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668173 | ||||||
| chr7:74668331 | TTGTG | T | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(17): Show |
20 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(17): Show |
intron_variant | MODIFIER | c.-6+10285_-6+10288d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668331 | ||||||
| chr7:74668331 | TTGTGTG | T | 125 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(122): Show |
125 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(122): Show |
intron_variant | MODIFIER | c.-6+10283_-6+10288d others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74668331 | ||||||
| chr7:74668384 | T | C | 7 | a0001c0001t0001g0044 a0001c0001t0002g0039 a0001c0001t0002g0043 others(4): Show |
7 | HG02145.hp2 HG02895.hp1 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.-6+10316T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668384 | |||||||
| chr7:74668508 | G | A | 2 | a0001c0002t0001g0101 a0001c0002t0001g0102 |
2 | HG03017.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.-6+10440G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668508 | |||||||
| chr7:74668695 | A | C | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+10627A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668695 | |||||||
| chr7:74668903 | A | C | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-6+10835A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74668903 | |||||||
| chr7:74669027 | G | A | 1 | a0001c0001t0002g0043 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-6+10959G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74669027 | |||||||
| chr7:74669224 | G | GT | 6 | a0001c0001t0002g0113 a0001c0001t0003g0019 a0001c0001t0003g0025 others(3): Show |
6 | HG01175.hp2 HG02071.hp1 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6+11180dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74669224 | ||||||
| chr7:74669224 | GT | G | 27 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 others(24): Show |
27 | HG00735.hp1 HG01074.hp2 HG01192.hp2 others(24): Show |
intron_variant | MODIFIER | c.-6+11180delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74669224 | ||||||
| chr7:74669224 | GTT | G | 104 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(101): Show |
104 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(101): Show |
intron_variant | MODIFIER | c.-6+11179_-6+11180d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74669224 | ||||||
| chr7:74669892 | G | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+11824G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74669892 | |||||||
| chr7:74670204 | G | C | 2 | a0001c0001t0001g0119 a0001c0001t0005g0118 |
2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-6+12136G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670204 | |||||||
| chr7:74670513 | A | G | 1 | a0001c0001t0001g0087 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.-6+12445A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670513 | |||||||
| chr7:74670622 | G | A | 3 | a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0137 |
3 | HG01978.hp2 HG02148.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.-6+12554G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670622 | |||||||
| chr7:74670689 | C | CA | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+12630dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74670689 | ||||||
| chr7:74670706 | A | C | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+12638A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670706 | |||||||
| chr7:74670714 | A | C | 7 | a0001c0001t0002g0038 a0001c0001t0002g0170 a0001c0001t0003g0018 others(4): Show |
7 | HG01070.hp2 HG01071.hp2 HG01074.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6+12646A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670714 | |||||||
| chr7:74670814 | G | A | 8 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(5): Show |
8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.-6+12746G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74670814 | |||||||
| chr7:74671038 | G | C | 3 | a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0163 |
3 | HG02735.hp1 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.-6+12970G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671038 | |||||||
| chr7:74671079 | CT | C | 98 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(95): Show |
98 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(95): Show |
intron_variant | MODIFIER | c.-6+13036delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671079 | ||||||
| chr7:74671079 | CTT | C | 11 | a0001c0001t0001g0029 a0001c0001t0001g0044 a0001c0001t0001g0063 others(8): Show |
11 | HG01168.hp1 HG01891.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.-6+13035_-6+13036d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671079 | ||||||
| chr7:74671475 | G | GT | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+13419dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671475 | ||||||
| chr7:74671525 | G | A | 1 | a0001c0001t0003g0016 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-6+13457G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671525 | |||||||
| chr7:74671705 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6+13637G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671705 | |||||||
| chr7:74671888 | G | GT | 2 | a0001c0001t0003g0018 a0001c0001t0003g0020 |
2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.-6+13821dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74671888 | ||||||
| chr7:74671923 | A | G | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-6+13855A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74671923 | |||||||
| chr7:74672082 | ATATG | A | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6+14019_-6+14022d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74672082 | ||||||
| chr7:74672169 | A | G | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-6+14101A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672169 | |||||||
| chr7:74672310 | G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.-6+14242G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672310 | |||||||
| chr7:74672564 | A | C | 1 | a0001c0002t0001g0112 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-6+14496A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672564 | |||||||
| chr7:74672569 | A | C | 2 | a0001c0001t0001g0027 a0001c0001t0001g0028 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-6+14501A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672569 | |||||||
| chr7:74672951 | C | T | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 |
3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-6+14883C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74672951 | |||||||
| chr7:74673141 | T | C | 145 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.-6+15073T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74673141 | |||||||
| chr7:74673680 | C | CT | 10 | a0001c0001t0001g0051 a0001c0001t0002g0013 a0001c0001t0002g0039 others(7): Show |
10 | HG01175.hp1 HG01515.hp2 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-15424dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74673680 | ||||||
| chr7:74673680 | CT | C | 10 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(7): Show |
10 | HG00140.hp2 HG01074.hp2 HG01256.hp2 others(7): Show |
intron_variant | MODIFIER | c.-5-15424delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74673680 | ||||||
| chr7:74673793 | G | A | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-15331G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74673793 | |||||||
| chr7:74673959 | G | A | 1 | a0001c0001t0002g0158 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.-5-15165G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74673959 | |||||||
| chr7:74674069 | CT | C | 83 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(80): Show |
83 | HG00639.hp1 HG00673.hp1 HG00735.hp2 others(80): Show |
intron_variant | MODIFIER | c.-5-15035delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74674069 | ||||||
| chr7:74674069 | CTT | C | 48 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(45): Show |
48 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(45): Show |
intron_variant | MODIFIER | c.-5-15036_-5-15035d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74674069 | ||||||
| chr7:74674154 | C | T | 2 | a0001c0001t0001g0055 a0001c0001t0001g0056 |
2 | HG02886.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.-5-14970C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674154 | |||||||
| chr7:74674395 | G | A | 1 | a0001c0001t0001g0073 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.-5-14729G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674395 | |||||||
| chr7:74674569 | A | G | 135 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show |
135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.-5-14555A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674569 | |||||||
| chr7:74674736 | G | A | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 |
3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.-5-14388G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674736 | |||||||
| chr7:74674864 | A | T | 2 | a0001c0001t0001g0062 a0001c0001t0002g0048 |
2 | HG02895.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.-5-14260A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674864 | |||||||
| chr7:74674956 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-14168G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74674956 | |||||||
| chr7:74675072 | C | G | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-14052C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675072 | |||||||
| chr7:74675072 | C | T | 1 | a0001c0001t0002g0137 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.-5-14052C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675072 | |||||||
| chr7:74675495 | C | G | 135 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show |
135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.-5-13629C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675495 | |||||||
| chr7:74675791 | C | T | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-13333C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675791 | |||||||
| chr7:74675852 | A | G | 1 | a0001c0001t0002g0170 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.-5-13272A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675852 | |||||||
| chr7:74675881 | G | A | 7 | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show |
7 | HG00673.hp2 HG02056.hp1 NA18960.hp1 others(4): Show |
intron_variant | MODIFIER | c.-5-13243G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675881 | |||||||
| chr7:74675925 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-5-13199G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675925 | |||||||
| chr7:74675987 | G | A | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-13137G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74675987 | |||||||
| chr7:74676009 | AAAACAAA others(1): Show |
A | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-5-13098_-5-13091d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74676009 | ||||||
| chr7:74676610 | A | G | 1 | a0001c0001t0001g0071 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-5-12514A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74676610 | |||||||
| chr7:74677124 | T | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-5-12000T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677124 | |||||||
| chr7:74677153 | G | T | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-11971G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677153 | |||||||
| chr7:74677389 | A | G | 1 | a0001c0001t0002g0166 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.-5-11735A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677389 | |||||||
| chr7:74677643 | G | A | 1 | a0001c0001t0001g0060 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.-5-11481G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677643 | |||||||
| chr7:74677781 | C | CAA | 6 | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(3): Show |
6 | HG00673.hp2 NA18960.hp1 NA19012.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-11329_-5-11328d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | ||||||
| chr7:74677781 | C | CAAAAAAA others(2): Show |
105 | a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 others(102): Show |
105 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(102): Show |
intron_variant | MODIFIER | c.-5-11336_-5-11328d others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | ||||||
| chr7:74677781 | C | CAAAAAAA others(3): Show |
20 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0027 others(17): Show |
20 | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(17): Show |
intron_variant | MODIFIER | c.-5-11337_-5-11328d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | ||||||
| chr7:74677781 | C | CAAAAAAA others(4): Show |
6 | a0001c0001t0001g0006 a0001c0001t0001g0030 a0001c0001t0001g0119 others(3): Show |
6 | HG01074.hp2 HG02145.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-11338_-5-11328d others(13): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | ||||||
| chr7:74677781 | C | CAAAAAAA others(5): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-5-11339_-5-11328d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74677781 | ||||||
| chr7:74677865 | A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-11259A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677865 | |||||||
| chr7:74677978 | A | T | 1 | a0001c0002t0001g0111 | 1 | HG01169.hp1 | intron_variant | MODIFIER | c.-5-11146A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74677978 | |||||||
| chr7:74678218 | C | CT | 16 | a0001c0001t0001g0029 a0001c0001t0002g0045 a0001c0001t0002g0129 others(13): Show |
16 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(13): Show |
intron_variant | MODIFIER | c.-5-10886dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74678218 | ||||||
| chr7:74678218 | CT | C | 5 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 others(2): Show |
5 | HG01169.hp1 HG02559.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.-5-10886delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74678218 | ||||||
| chr7:74678324 | T | A | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-10800T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678324 | |||||||
| chr7:74678417 | T | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-10707T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678417 | |||||||
| chr7:74678456 | G | T | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 |
3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-5-10668G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678456 | |||||||
| chr7:74678623 | G | A | 1 | a0001c0001t0002g0035 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-5-10501G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678623 | |||||||
| chr7:74678795 | A | G | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-10329A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678795 | |||||||
| chr7:74678833 | G | A | 2 | a0001c0001t0002g0143 a0001c0001t0002g0144 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-5-10291G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74678833 | |||||||
| chr7:74679062 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-5-10062G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679062 | |||||||
| chr7:74679172 | G | A | 9 | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(6): Show |
9 | HG00735.hp2 HG01071.hp1 HG01074.hp1 others(6): Show |
intron_variant | MODIFIER | c.-5-9952G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679172 | |||||||
| chr7:74679363 | G | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9761G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679363 | |||||||
| chr7:74679364 | C | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9760C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679364 | |||||||
| chr7:74679792 | A | C | 1 | a0001c0001t0002g0037 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.-5-9332A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679792 | |||||||
| chr7:74679873 | G | C | 1 | a0001c0001t0002g0154 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.-5-9251G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679873 | |||||||
| chr7:74679907 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-9217C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679907 | |||||||
| chr7:74679993 | C | T | 1 | a0001c0001t0002g0169 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.-5-9131C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74679993 | |||||||
| chr7:74680003 | C | T | 1 | a0001c0001t0002g0045 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-5-9121C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680003 | |||||||
| chr7:74680079 | C | CA | 49 | a0001c0001t0001g0030 a0001c0001t0002g0011 a0001c0001t0002g0012 others(46): Show |
49 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(46): Show |
intron_variant | MODIFIER | c.-5-9024dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | ||||||
| chr7:74680079 | C | CAA | 14 | a0001c0001t0001g0050 a0001c0001t0002g0013 a0001c0001t0002g0039 others(11): Show |
14 | HG01175.hp1 HG01515.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.-5-9025_-5-9024dup others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | ||||||
| chr7:74680079 | C | CAAA | 5 | a0001c0001t0001g0044 a0001c0001t0002g0031 a0001c0001t0002g0032 others(2): Show |
5 | HG02559.hp1 HG03041.hp2 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.-5-9026_-5-9024dup others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | ||||||
| chr7:74680079 | CAA | C | 6 | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(3): Show |
6 | NA18947.hp2 NA18960.hp1 NA19012.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9025_-5-9024del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680079 | ||||||
| chr7:74680089 | AAAAAAAA others(5): Show |
A | 1 | a0001c0001t0001g0084 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.-5-9033_-5-9022del others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680089 | ||||||
| chr7:74680093 | A | AT | 3 | a0001c0002t0001g0099 a0001c0002t0001g0114 a0001c0004t0001g0104 |
3 | NA18946.hp1 NA18949.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-5-9031_-5-9030ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680093 | |||||||
| chr7:74680095 | A | AT | 5 | a0001c0002t0001g0098 a0001c0002t0001g0102 a0001c0002t0001g0109 others(2): Show |
5 | HG01168.hp2 HG02615.hp2 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.-5-9029_-5-9028ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680095 | |||||||
| chr7:74680095 | A | ATATAT | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-9029_-5-9028ins others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680095 | |||||||
| chr7:74680095 | A | T | 6 | a0001c0002t0001g0099 a0001c0002t0001g0103 a0001c0002t0001g0111 others(3): Show |
6 | HG01169.hp1 HG02559.hp2 HG04228.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-9029A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680095 | |||||||
| chr7:74680096 | AAAAAT | A | 6 | a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0065 others(3): Show |
6 | HG02258.hp1 HG02572.hp2 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-9026_-5-9022del others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680096 | ||||||
| chr7:74680097 | A | AT | 5 | a0001c0001t0002g0105 a0001c0001t0002g0113 a0001c0002t0001g0002 others(2): Show |
5 | HG01175.hp2 HG03239.hp1 HG03490.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-9027_-5-9026ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680097 | |||||||
| chr7:74680097 | A | T | 19 | a0001c0001t0001g0077 a0001c0002t0001g0001 a0001c0002t0001g0095 others(16): Show |
19 | HG00673.hp2 HG01109.hp2 HG01168.hp2 others(16): Show |
intron_variant | MODIFIER | c.-5-9027A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680097 | |||||||
| chr7:74680097 | AAAAT | A | 19 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(16): Show |
19 | HG00140.hp1 HG00639.hp2 HG01109.hp1 others(16): Show |
intron_variant | MODIFIER | c.-5-9025_-5-9022del others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680097 | ||||||
| chr7:74680099 | A | AAAAAAAA others(34): Show |
1 | a0001c0001t0003g0019 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(41): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(20): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(27): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(26): Show |
1 | a0001c0001t0003g0017 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(33): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(21): Show |
1 | a0001c0001t0001g0005 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(28): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(29): Show |
1 | a0001c0001t0005g0118 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(36): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(20): Show |
1 | a0001c0001t0001g0006 | 1 | HG02897.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(27): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(24): Show |
1 | a0002c0003t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(31): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(26): Show |
1 | a0002c0003t0001g0008 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(33): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(28): Show |
3 | a0001c0001t0001g0120 a0001c0001t0003g0018 a0001c0001t0003g0020 |
3 | HG01070.hp2 HG01071.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(35): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(9): Show |
1 | a0001c0001t0004g0023 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(25): Show |
1 | a0001c0001t0003g0016 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(32): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(8): Show |
3 | a0001c0001t0004g0022 a0001c0001t0004g0024 a0001c0001t0004g0026 |
3 | HG01891.hp2 HG02280.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(21): Show |
1 | a0002c0003t0001g0009 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(28): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(23): Show |
1 | a0001c0001t0001g0119 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(30): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AAAAAAAA others(8): Show |
1 | a0001c0001t0003g0025 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.-5-9024_-5-9023ins others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680099 | ||||||
| chr7:74680099 | A | AT | 2 | a0001c0002t0001g0116 a0001c0002t0001g0117 |
2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.-5-9025_-5-9024ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680099 | |||||||
| chr7:74680099 | A | G | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-9025A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680099 | |||||||
| chr7:74680099 | A | T | 25 | a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0085 others(22): Show |
25 | HG00099.hp2 HG00673.hp2 HG01109.hp2 others(22): Show |
intron_variant | MODIFIER | c.-5-9025A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680099 | |||||||
| chr7:74680100 | AT | A | 2 | a0001c0001t0002g0086 a0001c0001t0002g0126 |
2 | HG02258.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.-5-9023delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680100 | |||||||
| chr7:74680100 | ATAT | A | 3 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 |
3 | HG02451.hp2 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-5-9023_-5-9021del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680100 | |||||||
| chr7:74680101 | T | A | 56 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0050 others(53): Show |
56 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.-5-9023T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680101 | |||||||
| chr7:74680103 | T | A | 10 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 others(7): Show |
10 | HG00673.hp1 HG01515.hp1 HG01891.hp1 others(7): Show |
intron_variant | MODIFIER | c.-5-9021T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680103 | |||||||
| chr7:74680105 | T | A | 3 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 |
3 | HG02451.hp2 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-5-9019T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680105 | |||||||
| chr7:74680107 | T | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-9017T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680107 | |||||||
| chr7:74680114 | ATATG | A | 3 | a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0080 |
3 | HG02109.hp1 HG02630.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.-5-8994_-5-8991del others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680114 | ||||||
| chr7:74680118 | G | A | 128 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(125): Show |
128 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(125): Show |
intron_variant | MODIFIER | c.-5-9006G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680118 | |||||||
| chr7:74680135 | T | C | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-5-8989T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680135 | |||||||
| chr7:74680139 | C | T | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-5-8985C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680139 | |||||||
| chr7:74680141 | T | C | 1 | a0001c0001t0001g0063 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-5-8983T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680141 | |||||||
| chr7:74680148 | ATG | A | 4 | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0075 others(1): Show |
4 | HG02486.hp2 HG02630.hp1 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-8974_-5-8973del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680148 | ||||||
| chr7:74680150 | G | A | 37 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(34): Show |
37 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(34): Show |
intron_variant | MODIFIER | c.-5-8974G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680150 | |||||||
| chr7:74680386 | G | T | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.-5-8738G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680386 | |||||||
| chr7:74680552 | G | A | 1 | a0001c0001t0002g0039 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.-5-8572G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74680552 | |||||||
| chr7:74680757 | ATGT | A | 81 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 others(78): Show |
81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.-5-8360_-5-8358del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74680757 | ||||||
| chr7:74681340 | C | T | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-5-7784C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681340 | |||||||
| chr7:74681352 | T | A | 81 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 others(78): Show |
81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.-5-7772T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681352 | |||||||
| chr7:74681440 | T | G | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-7684T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681440 | |||||||
| chr7:74681458 | G | GA | 6 | a0001c0001t0001g0076 a0001c0001t0003g0025 a0001c0001t0004g0022 others(3): Show |
6 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-7657dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74681458 | ||||||
| chr7:74681634 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-5-7490G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681634 | |||||||
| chr7:74681797 | A | G | 42 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(39): Show |
42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.-5-7327A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681797 | |||||||
| chr7:74681910 | C | CA | 6 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0002g0011 others(3): Show |
6 | HG01071.hp1 HG01074.hp1 HG01175.hp1 others(3): Show |
intron_variant | MODIFIER | c.-5-7199dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74681910 | ||||||
| chr7:74681983 | C | T | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-5-7141C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74681983 | |||||||
| chr7:74682024 | G | A | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.-5-7100G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682024 | |||||||
| chr7:74682146 | T | C | 3 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 |
3 | HG01346.hp1 HG02071.hp1 NA18979.hp2 |
intron_variant | MODIFIER | c.-5-6978T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682146 | |||||||
| chr7:74682390 | A | G | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-6734A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682390 | |||||||
| chr7:74682482 | A | C | 1 | a0001c0001t0002g0157 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.-5-6642A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682482 | |||||||
| chr7:74682548 | G | A | 1 | a0001c0001t0002g0146 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.-5-6576G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682548 | |||||||
| chr7:74682971 | G | A | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.-5-6153G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74682971 | |||||||
| chr7:74683028 | TA | T | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-5-6093delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74683028 | ||||||
| chr7:74683128 | G | A | 3 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 |
3 | HG02451.hp2 HG03195.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.-5-5996G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683128 | |||||||
| chr7:74683154 | C | T | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.-5-5970C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683154 | |||||||
| chr7:74683288 | A | G | 2 | a0001c0001t0002g0140 a0001c0001t0002g0146 |
2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.-5-5836A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683288 | |||||||
| chr7:74683290 | C | T | 3 | a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 |
3 | HG02559.hp1 HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.-5-5834C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683290 | |||||||
| chr7:74683612 | G | A | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.-5-5512G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683612 | |||||||
| chr7:74683647 | G | A | 2 | a0001c0001t0002g0143 a0001c0001t0002g0144 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-5-5477G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683647 | |||||||
| chr7:74683713 | T | G | 3 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0019 |
3 | HG01346.hp1 HG02071.hp1 NA18979.hp2 |
intron_variant | MODIFIER | c.-5-5411T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683713 | |||||||
| chr7:74683722 | G | A | 129 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.-5-5402G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683722 | |||||||
| chr7:74683743 | C | G | 2 | a0001c0001t0001g0027 a0001c0001t0001g0028 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-5-5381C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683743 | |||||||
| chr7:74683960 | G | A | 1 | a0001c0001t0002g0161 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.-5-5164G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74683960 | |||||||
| chr7:74684098 | A | T | 1 | a0001c0002t0001g0112 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.-5-5026A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684098 | |||||||
| chr7:74684288 | A | T | 2 | a0001c0002t0001g0099 a0001c0002t0001g0114 |
2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.-5-4836A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684288 | |||||||
| chr7:74684334 | C | T | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.-5-4790C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684334 | |||||||
| chr7:74684615 | G | A | 84 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(81): Show |
84 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.-5-4509G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684615 | |||||||
| chr7:74684787 | G | A | 2 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-5-4337G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684787 | |||||||
| chr7:74684804 | C | T | 81 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0044 others(78): Show |
81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.-5-4320C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684804 | |||||||
| chr7:74684920 | A | G | 2 | a0001c0001t0002g0040 a0001c0001t0002g0041 |
2 | HG00735.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.-5-4204A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684920 | |||||||
| chr7:74684983 | T | C | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-5-4141T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74684983 | |||||||
| chr7:74685092 | G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-4032G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685092 | |||||||
| chr7:74685118 | C | T | 1 | a0001c0001t0002g0168 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.-5-4006C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685118 | |||||||
| chr7:74685235 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-3889C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685235 | |||||||
| chr7:74685272 | G | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-3852G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685272 | |||||||
| chr7:74685343 | A | C | 78 | a0001c0001t0001g0044 a0001c0001t0002g0011 a0001c0001t0002g0012 others(75): Show |
78 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.-5-3781A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685343 | |||||||
| chr7:74685413 | C | G | 2 | a0001c0001t0002g0140 a0001c0001t0002g0146 |
2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.-5-3711C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685413 | |||||||
| chr7:74685492 | G | C | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.-5-3632G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685492 | |||||||
| chr7:74685691 | C | T | 1 | a0001c0001t0002g0153 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.-5-3433C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685691 | |||||||
| chr7:74685744 | G | T | 4 | a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 others(1): Show |
4 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-3380G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685744 | |||||||
| chr7:74685745 | C | T | 4 | a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 others(1): Show |
4 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-3379C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685745 | |||||||
| chr7:74685911 | C | G | 133 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(130): Show |
133 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(130): Show |
intron_variant | MODIFIER | c.-5-3213C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685911 | |||||||
| chr7:74685922 | G | A | 5 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show |
5 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-3202G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74685922 | |||||||
| chr7:74686118 | A | G | 1 | a0001c0002t0001g0110 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-5-3006A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686118 | |||||||
| chr7:74686233 | C | T | 1 | a0001c0002t0001g0110 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-5-2891C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686233 | |||||||
| chr7:74686732 | T | C | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.-5-2392T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686732 | |||||||
| chr7:74686895 | G | GT | 8 | a0001c0001t0001g0120 a0001c0001t0002g0034 a0001c0001t0002g0158 others(5): Show |
8 | HG02965.hp2 HG03139.hp1 HG03471.hp1 others(5): Show |
intron_variant | MODIFIER | c.-5-2217dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr7 | 74686895 | ||||||
| chr7:74686895 | G | T | 6 | a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 others(3): Show |
6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.-5-2229G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74686895 | |||||||
| chr7:74687079 | CAG | C | 2 | a0001c0001t0001g0119 a0001c0001t0005g0118 |
2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.-5-2044_-5-2043del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687079 | |||||||
| chr7:74687142 | C | T | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.-5-1982C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687142 | |||||||
| chr7:74687404 | A | G | 1 | a0001c0001t0002g0141 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-5-1720A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687404 | |||||||
| chr7:74687493 | G | A | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.-5-1631G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687493 | |||||||
| chr7:74687575 | C | T | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.-5-1549C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74687575 | |||||||
| chr7:74688209 | G | C | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.-5-915G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688209 | |||||||
| chr7:74688219 | C | T | 1 | a0001c0001t0002g0141 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.-5-905C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688219 | |||||||
| chr7:74688289 | G | T | 1 | a0001c0001t0002g0160 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.-5-835G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688289 | |||||||
| chr7:74688331 | G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-5-793G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688331 | |||||||
| chr7:74688561 | A | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.-5-563A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688561 | |||||||
| chr7:74688610 | T | A | 170 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(167): Show |
170 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(167): Show |
intron_variant | MODIFIER | c.-5-514T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688610 | |||||||
| chr7:74688650 | C | T | 3 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.-5-474C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74688650 | |||||||
| chr7:74689008 | C | T | 2 | a0001c0002t0001g0111 a0001c0002t0001g0115 |
2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.-5-116C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 1/34 | chr7 | 74689008 | |||||||
| chr7:74689348 | C | CT | 9 | a0001c0001t0001g0030 a0001c0001t0001g0074 a0001c0001t0002g0113 others(6): Show |
9 | HG01175.hp1 HG01175.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.99+145dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74689348 | ||||||
| chr7:74689348 | CT | C | 10 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0064 others(7): Show |
10 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.99+145delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74689348 | ||||||
| chr7:74689454 | A | G | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.99+227A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74689454 | |||||||
| chr7:74689704 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.99+477C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74689704 | |||||||
| chr7:74689708 | C | CATTCATT others(1): Show |
2 | a0001c0001t0002g0047 a0001c0001t0002g0086 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.99+488_99+489insAA others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74689708 | ||||||
| chr7:74689745 | C | T | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.99+518C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74689745 | |||||||
| chr7:74690372 | T | C | 84 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(81): Show |
84 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.100-601T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690372 | |||||||
| chr7:74690682 | A | G | 40 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(37): Show |
40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.100-291A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690682 | |||||||
| chr7:74690699 | G | A | 7 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(4): Show |
7 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.100-274G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690699 | |||||||
| chr7:74690864 | T | C | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.100-109T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690864 | |||||||
| chr7:74690887 | ATG | A | 2 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.100-84_100-83delGT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74690887 | ||||||
| chr7:74690887 | ATGT | A | 67 | a0001c0001t0001g0044 a0001c0001t0002g0011 a0001c0001t0002g0012 others(64): Show |
67 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.100-81_100-79delGT others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | 74690887 | ||||||
| chr7:74690890 | T | A | 2 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.100-83T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690890 | |||||||
| chr7:74690915 | C | T | 1 | a0001c0002t0001g0109 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.100-58C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | chr7 | 74690915 | |||||||
| chr7:74691188 | TTTTCTTT others(5): Show |
T | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.238+89_238+100delC others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74691188 | ||||||
| chr7:74691188 | TTTTCTTT others(9): Show |
T | 2 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.238+85_238+100delC others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74691188 | ||||||
| chr7:74691353 | C | T | 8 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(5): Show |
8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.238+242C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74691353 | |||||||
| chr7:74692025 | C | T | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.238+914C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692025 | |||||||
| chr7:74692111 | G | A | 1 | a0001c0001t0001g0060 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.238+1000G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692111 | |||||||
| chr7:74692143 | C | T | 1 | a0001c0001t0005g0118 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.238+1032C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692143 | |||||||
| chr7:74692144 | G | A | 1 | a0001c0001t0002g0128 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.238+1033G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692144 | |||||||
| chr7:74692147 | C | G | 1 | a0001c0002t0001g0109 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.238+1036C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692147 | |||||||
| chr7:74692301 | C | G | 1 | a0001c0007t0002g0036 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.238+1190C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692301 | |||||||
| chr7:74692369 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+1258C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692369 | |||||||
| chr7:74692543 | C | T | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.238+1432C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692543 | |||||||
| chr7:74692840 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+1729G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74692840 | |||||||
| chr7:74693042 | A | G | 145 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.238+1931A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693042 | |||||||
| chr7:74693061 | C | T | 1 | a0001c0001t0002g0131 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.238+1950C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693061 | |||||||
| chr7:74693216 | A | G | 1 | a0001c0001t0002g0015 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.238+2105A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693216 | |||||||
| chr7:74693265 | A | AT | 42 | a0001c0001t0001g0007 a0001c0001t0001g0028 a0001c0001t0001g0050 others(39): Show |
42 | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(39): Show |
intron_variant | MODIFIER | c.238+2182dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74693265 | ||||||
| chr7:74693265 | A | ATT | 5 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0076 others(2): Show |
5 | HG01192.hp2 HG02572.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.238+2181_238+2182d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74693265 | ||||||
| chr7:74693265 | AT | A | 11 | a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0089 others(8): Show |
11 | HG01070.hp1 HG01169.hp2 HG01515.hp2 others(8): Show |
intron_variant | MODIFIER | c.238+2182delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74693265 | ||||||
| chr7:74693312 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0005g0118 |
2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.238+2201G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693312 | |||||||
| chr7:74693499 | T | C | 1 | a0001c0001t0001g0052 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.238+2388T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693499 | |||||||
| chr7:74693530 | C | T | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.238+2419C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693530 | |||||||
| chr7:74693601 | C | T | 7 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 others(4): Show |
7 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(4): Show |
intron_variant | MODIFIER | c.238+2490C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693601 | |||||||
| chr7:74693725 | A | G | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.238+2614A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693725 | |||||||
| chr7:74693745 | C | T | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.238+2634C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693745 | |||||||
| chr7:74693802 | C | T | 42 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(39): Show |
42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.238+2691C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693802 | |||||||
| chr7:74693803 | A | G | 145 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.238+2692A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693803 | |||||||
| chr7:74693854 | A | G | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.238+2743A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693854 | |||||||
| chr7:74693883 | A | G | 3 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.238+2772A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693883 | |||||||
| chr7:74693917 | C | G | 144 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(141): Show |
144 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(141): Show |
intron_variant | MODIFIER | c.238+2806C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74693917 | |||||||
| chr7:74694107 | T | C | 1 | a0001c0001t0002g0155 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.238+2996T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694107 | |||||||
| chr7:74694176 | A | G | 1 | a0001c0001t0002g0034 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.238+3065A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694176 | |||||||
| chr7:74694416 | G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.238+3305G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694416 | |||||||
| chr7:74694588 | A | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.238+3477A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694588 | |||||||
| chr7:74694640 | C | T | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.238+3529C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694640 | |||||||
| chr7:74694916 | A | T | 1 | a0001c0001t0001g0071 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.238+3805A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74694916 | |||||||
| chr7:74695191 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.239-3770C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695191 | |||||||
| chr7:74695449 | G | A | 6 | a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 others(3): Show |
6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-3512G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695449 | |||||||
| chr7:74695605 | A | G | 1 | a0001c0001t0001g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.239-3356A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695605 | |||||||
| chr7:74695984 | T | C | 1 | a0001c0001t0001g0051 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.239-2977T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74695984 | |||||||
| chr7:74695996 | AT | A | 5 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0050 others(2): Show |
5 | HG02735.hp1 HG02735.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-2949delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74695996 | ||||||
| chr7:74696373 | A | G | 11 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(8): Show |
11 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.239-2588A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74696373 | |||||||
| chr7:74696493 | AT | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0054 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-2452delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74696493 | ||||||
| chr7:74696821 | T | C | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.239-2140T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74696821 | |||||||
| chr7:74697459 | G | C | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.239-1502G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697459 | |||||||
| chr7:74697943 | AT | A | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.239-1012delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74697943 | ||||||
| chr7:74697949 | TG | T | 84 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(81): Show |
84 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.239-1011delG | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697949 | |||||||
| chr7:74697950 | G | T | 43 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(40): Show |
43 | HG00099.hp2 HG01070.hp2 HG01071.hp2 others(40): Show |
intron_variant | MODIFIER | c.239-1011G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697950 | |||||||
| chr7:74697954 | G | T | 6 | a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 others(3): Show |
6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-1007G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74697954 | |||||||
| chr7:74698037 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-924G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698037 | |||||||
| chr7:74698038 | C | T | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.239-923C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698038 | |||||||
| chr7:74698139 | T | C | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.239-822T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698139 | |||||||
| chr7:74698389 | C | CT | 6 | a0001c0001t0002g0113 a0001c0001t0003g0019 a0001c0002t0001g0102 others(3): Show |
6 | HG01175.hp2 HG02071.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.239-545dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | ||||||
| chr7:74698389 | CT | C | 33 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0057 others(30): Show |
33 | HG01074.hp2 HG01175.hp1 HG01256.hp1 others(30): Show |
intron_variant | MODIFIER | c.239-545delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | ||||||
| chr7:74698389 | CTT | C | 106 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(103): Show |
106 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(103): Show |
intron_variant | MODIFIER | c.239-546_239-545del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | ||||||
| chr7:74698389 | CTTT | C | 5 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0013 others(2): Show |
5 | HG01169.hp2 HG02895.hp1 HG03704.hp2 others(2): Show |
intron_variant | MODIFIER | c.239-547_239-545del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698389 | ||||||
| chr7:74698416 | T | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.239-545T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698416 | |||||||
| chr7:74698651 | ATCC | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.239-305_239-303del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | 74698651 | ||||||
| chr7:74698811 | A | G | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.239-150A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | chr7 | 74698811 | |||||||
| chr7:74699298 | G | GT | 14 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(11): Show |
14 | HG01074.hp2 HG02145.hp2 HG02155.hp1 others(11): Show |
intron_variant | MODIFIER | c.373+215dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | INFO_REALIGN_3_PRIME | chr7 | 74699298 | ||||||
| chr7:74699442 | G | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.373+347G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74699442 | |||||||
| chr7:74699504 | C | G | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.373+409C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74699504 | |||||||
| chr7:74699516 | C | T | 2 | a0001c0001t0002g0143 a0001c0001t0002g0144 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.373+421C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74699516 | |||||||
| chr7:74700176 | A | G | 1 | a0001c0002t0001g0112 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.374-71A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 4/34 | chr7 | 74700176 | |||||||
| chr7:74700517 | C | T | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.557+87C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 5/34 | chr7 | 74700517 | |||||||
| chr7:74700676 | G | A | 1 | a0001c0002t0001g0110 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.586+42G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74700676 | |||||||
| chr7:74700928 | C | T | 42 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(39): Show |
42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.586+294C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74700928 | |||||||
| chr7:74701009 | C | T | 42 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(39): Show |
42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.586+375C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74701009 | |||||||
| chr7:74701630 | G | A | 2 | a0001c0001t0001g0029 a0001c0001t0001g0030 |
2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.586+996G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74701630 | |||||||
| chr7:74701717 | G | A | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.586+1083G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74701717 | |||||||
| chr7:74702227 | CT | C | 63 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(60): Show |
63 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(60): Show |
intron_variant | MODIFIER | c.586+1608delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74702227 | ||||||
| chr7:74702375 | G | A | 1 | a0001c0001t0002g0105 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.586+1741G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74702375 | |||||||
| chr7:74702873 | C | T | 1 | a0001c0001t0002g0037 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.586+2239C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74702873 | |||||||
| chr7:74702909 | C | G | 3 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 |
3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.587-2255C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74702909 | |||||||
| chr7:74703019 | G | A | 1 | a0001c0001t0002g0135 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.587-2145G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703019 | |||||||
| chr7:74703188 | A | T | 5 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0002g0037 others(2): Show |
5 | HG02258.hp2 HG02451.hp2 HG02818.hp2 others(2): Show |
intron_variant | MODIFIER | c.587-1976A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703188 | |||||||
| chr7:74703460 | ACC | A | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.587-1703_587-1702d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703460 | |||||||
| chr7:74703566 | T | G | 135 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show |
135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.587-1598T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703566 | |||||||
| chr7:74703752 | T | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-1412T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74703752 | |||||||
| chr7:74704024 | T | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-1140T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704024 | |||||||
| chr7:74704252 | T | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.587-912T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704252 | |||||||
| chr7:74704266 | A | ATATTTAT others(5): Show |
1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-897_587-896ins others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704266 | ||||||
| chr7:74704268 | T | A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.587-896T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704268 | |||||||
| chr7:74704268 | T | TCTTATTT others(5): Show |
1 | a0001c0001t0001g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.587-896_587-895ins others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | chr7 | 74704268 | |||||||
| chr7:74704268 | T | TTTTATTT others(1): Show |
43 | a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0054 others(40): Show |
43 | HG00639.hp2 HG00673.hp2 HG01070.hp1 others(40): Show |
intron_variant | MODIFIER | c.587-876_587-869dup others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704268 | ||||||
| chr7:74704268 | T | TTTTATTT others(5): Show |
70 | a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0001g0053 others(67): Show |
70 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(67): Show |
intron_variant | MODIFIER | c.587-880_587-869dup others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704268 | ||||||
| chr7:74704268 | T | TTTTATTT others(9): Show |
7 | a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 others(4): Show |
7 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.587-884_587-869dup others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704268 | ||||||
| chr7:74704284 | A | ATTTATTT others(5): Show |
6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.587-867_587-856dup others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704284 | ||||||
| chr7:74704293 | T | TTTATTTA others(4): Show |
1 | a0001c0001t0002g0034 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.587-869_587-868ins others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704293 | ||||||
| chr7:74704855 | T | TA | 6 | a0001c0002t0001g0001 a0001c0002t0001g0095 a0001c0002t0001g0101 others(3): Show |
6 | HG01109.hp2 HG02965.hp2 HG03017.hp1 others(3): Show |
intron_variant | MODIFIER | c.587-279dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | ||||||
| chr7:74704855 | TA | T | 11 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(8): Show |
11 | HG01070.hp2 HG01071.hp2 HG01256.hp1 others(8): Show |
intron_variant | MODIFIER | c.587-279delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | ||||||
| chr7:74704855 | TAA | T | 10 | a0001c0001t0001g0044 a0001c0001t0001g0075 a0001c0001t0001g0076 others(7): Show |
10 | HG02486.hp2 HG02572.hp2 HG03098.hp2 others(7): Show |
intron_variant | MODIFIER | c.587-280_587-279del others(2): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | ||||||
| chr7:74704855 | TAAA | T | 101 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(98): Show |
101 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(98): Show |
intron_variant | MODIFIER | c.587-281_587-279del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | ||||||
| chr7:74704855 | TAAAA | T | 20 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0061 others(17): Show |
20 | HG00735.hp2 HG01168.hp1 HG01169.hp2 others(17): Show |
intron_variant | MODIFIER | c.587-282_587-279del others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | 74704855 | ||||||
| chr7:74705553 | CT | C | 126 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.641+350delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | INFO_REALIGN_3_PRIME | chr7 | 74705553 | ||||||
| chr7:74705647 | C | G | 1 | a0001c0001t0001g0081 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.641+429C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74705647 | |||||||
| chr7:74705932 | T | G | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 |
3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.642-458T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74705932 | |||||||
| chr7:74706038 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.642-352C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74706038 | |||||||
| chr7:74706039 | A | G | 145 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.642-351A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 7/34 | chr7 | 74706039 | |||||||
| chr7:74706674 | A | AT | 12 | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0098 others(9): Show |
12 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.685+250dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr7 | 74706674 | ||||||
| chr7:74706683 | T | C | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.685+250T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706683 | |||||||
| chr7:74706874 | G | A | 1 | a0001c0001t0001g0120 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.685+441G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706874 | |||||||
| chr7:74706896 | A | G | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.685+463A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706896 | |||||||
| chr7:74706905 | C | T | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.685+472C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706905 | |||||||
| chr7:74706914 | G | T | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.685+481G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74706914 | |||||||
| chr7:74707009 | A | T | 4 | a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0157 others(1): Show |
4 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.685+576A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707009 | |||||||
| chr7:74707207 | G | A | 8 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(5): Show |
8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.685+774G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707207 | |||||||
| chr7:74707296 | C | T | 2 | a0001c0001t0002g0031 a0001c0001t0002g0032 |
2 | HG03041.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.685+863C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707296 | |||||||
| chr7:74707366 | G | A | 1 | a0001c0001t0002g0153 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.685+933G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707366 | |||||||
| chr7:74707895 | C | T | 1 | a0001c0001t0002g0161 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.685+1462C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74707895 | |||||||
| chr7:74708117 | T | C | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.685+1684T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708117 | |||||||
| chr7:74708389 | A | T | 83 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(80): Show |
83 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(80): Show |
intron_variant | MODIFIER | c.685+1956A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708389 | |||||||
| chr7:74708523 | G | A | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.685+2090G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708523 | |||||||
| chr7:74708526 | G | A | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.685+2093G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708526 | |||||||
| chr7:74708572 | G | A | 1 | a0001c0001t0001g0057 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.685+2139G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708572 | |||||||
| chr7:74708676 | C | T | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.685+2243C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74708676 | |||||||
| chr7:74709373 | C | T | 2 | a0001c0001t0001g0119 a0001c0001t0005g0118 |
2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.686-1659C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74709373 | |||||||
| chr7:74709449 | G | T | 1 | a0001c0001t0001g0080 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.686-1583G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74709449 | |||||||
| chr7:74709745 | T | A | 1 | a0001c0002t0001g0002 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.686-1287T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74709745 | |||||||
| chr7:74710005 | T | A | 1 | a0001c0001t0005g0118 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.686-1027T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710005 | |||||||
| chr7:74710139 | G | A | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.686-893G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710139 | |||||||
| chr7:74710314 | T | C | 2 | a0001c0001t0001g0027 a0001c0001t0001g0028 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.686-718T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710314 | |||||||
| chr7:74710374 | G | A | 2 | a0001c0001t0002g0136 a0001c0001t0002g0167 |
2 | NA18946.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.686-658G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710374 | |||||||
| chr7:74710440 | C | T | 1 | a0001c0002t0001g0004 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.686-592C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710440 | |||||||
| chr7:74710579 | C | A | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.686-453C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710579 | |||||||
| chr7:74710589 | A | C | 1 | a0001c0001t0002g0156 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.686-443A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 8/34 | chr7 | 74710589 | |||||||
| chr7:74711187 | A | G | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 |
3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.763+78A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711187 | |||||||
| chr7:74711246 | C | A | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.763+137C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711246 | |||||||
| chr7:74711703 | C | T | 3 | a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0001t0002g0155 |
3 | HG03704.hp1 NA18947.hp1 NA19002.hp2 |
intron_variant | MODIFIER | c.763+594C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711703 | |||||||
| chr7:74711837 | T | C | 160 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(157): Show |
160 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(157): Show |
intron_variant | MODIFIER | c.763+728T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74711837 | |||||||
| chr7:74711949 | C | CT | 14 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(11): Show |
14 | HG01070.hp2 HG01071.hp2 HG01074.hp2 others(11): Show |
intron_variant | MODIFIER | c.763+858dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74711949 | ||||||
| chr7:74712011 | G | A | 1 | a0001c0001t0002g0161 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.763+902G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712011 | |||||||
| chr7:74712069 | C | A | 1 | a0001c0001t0002g0037 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.763+960C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712069 | |||||||
| chr7:74712101 | C | G | 1 | a0001c0001t0002g0154 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.763+992C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712101 | |||||||
| chr7:74712367 | T | C | 1 | a0001c0001t0002g0015 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.763+1258T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712367 | |||||||
| chr7:74712469 | C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.763+1360C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712469 | |||||||
| chr7:74712487 | AGT | A | 29 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0029 others(26): Show |
29 | HG00140.hp2 HG01346.hp2 HG01993.hp2 others(26): Show |
intron_variant | MODIFIER | c.763+1427_763+1428d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGT | A | 48 | a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(45): Show |
48 | HG00099.hp1 HG00738.hp1 HG00738.hp2 others(45): Show |
intron_variant | MODIFIER | c.763+1425_763+1428d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGT | A | 17 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0044 others(14): Show |
17 | HG00639.hp1 HG00673.hp1 HG01070.hp1 others(14): Show |
intron_variant | MODIFIER | c.763+1423_763+1428d others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGTG others(1): Show |
A | 11 | a0001c0001t0001g0120 a0001c0001t0002g0040 a0001c0001t0002g0041 others(8): Show |
11 | HG00735.hp2 HG01070.hp2 HG01071.hp2 others(8): Show |
intron_variant | MODIFIER | c.763+1421_763+1428d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGTG others(3): Show |
A | 8 | a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 others(5): Show |
8 | HG00140.hp1 HG00735.hp1 HG01169.hp2 others(5): Show |
intron_variant | MODIFIER | c.763+1419_763+1428d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGTG others(5): Show |
A | 35 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(32): Show |
35 | HG00639.hp2 HG00673.hp2 HG01109.hp1 others(32): Show |
intron_variant | MODIFIER | c.763+1417_763+1428d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGTG others(7): Show |
A | 1 | a0001c0001t0001g0065 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.763+1415_763+1428d others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGTG others(9): Show |
A | 2 | a0001c0002t0001g0116 a0001c0002t0001g0117 |
2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.763+1413_763+1428d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGTG others(15): Show |
A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.763+1407_763+1428d others(24): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712487 | AGTGTGTG others(21): Show |
A | 2 | a0001c0001t0001g0027 a0001c0001t0001g0028 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.763+1401_763+1428d others(30): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712487 | ||||||
| chr7:74712652 | C | CT | 51 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(48): Show |
51 | HG00140.hp1 HG00673.hp2 HG00735.hp1 others(48): Show |
intron_variant | MODIFIER | c.763+1560dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74712652 | ||||||
| chr7:74712672 | C | T | 5 | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 others(2): Show |
5 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.763+1563C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712672 | |||||||
| chr7:74712764 | A | G | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.763+1655A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712764 | |||||||
| chr7:74712869 | G | A | 1 | a0001c0001t0002g0013 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.763+1760G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74712869 | |||||||
| chr7:74713090 | T | C | 1 | a0001c0001t0002g0152 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.764-1767T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713090 | |||||||
| chr7:74713147 | C | T | 1 | a0001c0001t0002g0151 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.764-1710C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713147 | |||||||
| chr7:74713175 | TA | T | 89 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(86): Show |
89 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(86): Show |
intron_variant | MODIFIER | c.764-1674delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74713175 | ||||||
| chr7:74713416 | CTT | C | 10 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(7): Show |
10 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.764-1438_764-1437d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr7 | 74713416 | ||||||
| chr7:74713639 | G | T | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.764-1218G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713639 | |||||||
| chr7:74713641 | A | C | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.764-1216A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74713641 | |||||||
| chr7:74714467 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.764-390C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714467 | |||||||
| chr7:74714476 | A | G | 1 | a0001c0001t0002g0168 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.764-381A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714476 | |||||||
| chr7:74714719 | C | T | 1 | a0001c0001t0001g0067 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.764-138C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714719 | |||||||
| chr7:74714815 | T | G | 3 | a0001c0001t0001g0021 a0001c0001t0002g0034 a0001c0001t0002g0035 |
3 | HG02155.hp2 NA18964.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.764-42T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 9/34 | chr7 | 74714815 | |||||||
| chr7:74714941 | C | T | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.823+25C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74714941 | |||||||
| chr7:74715616 | C | T | 1 | a0001c0001t0001g0051 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.823+700C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715616 | |||||||
| chr7:74715780 | A | C | 1 | a0001c0001t0002g0172 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.823+864A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715780 | |||||||
| chr7:74715846 | A | G | 1 | a0001c0001t0002g0151 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.823+930A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715846 | |||||||
| chr7:74715992 | C | T | 1 | a0001c0001t0002g0151 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.824-902C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74715992 | |||||||
| chr7:74716354 | T | C | 1 | a0001c0001t0002g0155 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.824-540T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 10/34 | chr7 | 74716354 | |||||||
| chr7:74717330 | TC | T | 129 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.880+381delC | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717330 | |||||||
| chr7:74717695 | G | A | 129 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(126): Show |
129 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(126): Show |
intron_variant | MODIFIER | c.880+745G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717695 | |||||||
| chr7:74717913 | T | C | 1 | a0001c0001t0001g0073 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.880+963T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717913 | |||||||
| chr7:74717986 | A | T | 135 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show |
135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.881-893A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74717986 | |||||||
| chr7:74718516 | A | G | 2 | a0001c0001t0002g0047 a0001c0001t0002g0086 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.881-363A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74718516 | |||||||
| chr7:74718748 | T | C | 2 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.881-131T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74718748 | |||||||
| chr7:74718756 | G | C | 1 | a0001c0001t0001g0119 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.881-123G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 11/34 | chr7 | 74718756 | |||||||
| chr7:74719366 | C | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.943+425C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719366 | |||||||
| chr7:74719378 | C | T | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 |
3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.943+437C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719378 | |||||||
| chr7:74719610 | C | T | 40 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(37): Show |
40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.943+669C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719610 | |||||||
| chr7:74719677 | T | G | 1 | a0001c0001t0002g0034 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.943+736T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719677 | |||||||
| chr7:74719771 | C | G | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.943+830C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719771 | |||||||
| chr7:74719876 | C | T | 1 | a0001c0001t0001g0044 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.943+935C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74719876 | |||||||
| chr7:74720098 | T | C | 1 | a0001c0001t0001g0053 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.943+1157T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74720098 | |||||||
| chr7:74720592 | C | T | 147 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(144): Show |
147 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.943+1651C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74720592 | |||||||
| chr7:74720741 | A | AT | 132 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(129): Show |
132 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(129): Show |
intron_variant | MODIFIER | c.943+1819dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74720741 | ||||||
| chr7:74720847 | A | G | 2 | a0001c0001t0001g0074 a0001c0001t0001g0084 |
2 | HG03098.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.943+1906A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74720847 | |||||||
| chr7:74720983 | C | CT | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.943+2045dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74720983 | ||||||
| chr7:74721110 | C | T | 1 | a0001c0001t0002g0153 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.943+2169C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721110 | |||||||
| chr7:74721111 | G | A | 1 | a0001c0001t0002g0172 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.943+2170G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721111 | |||||||
| chr7:74721405 | A | C | 2 | a0001c0001t0001g0052 a0001c0001t0001g0060 |
2 | HG02258.hp1 HG02723.hp1 |
intron_variant | MODIFIER | c.943+2464A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721405 | |||||||
| chr7:74721524 | A | G | 5 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(2): Show |
5 | HG00140.hp1 HG01169.hp2 HG01978.hp1 others(2): Show |
intron_variant | MODIFIER | c.943+2583A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721524 | |||||||
| chr7:74721611 | A | G | 1 | a0001c0001t0003g0025 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.943+2670A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721611 | |||||||
| chr7:74721887 | G | A | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.943+2946G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721887 | |||||||
| chr7:74721965 | G | A | 1 | a0001c0001t0001g0088 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.943+3024G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74721965 | |||||||
| chr7:74722629 | AT | A | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.943+3690delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74722629 | ||||||
| chr7:74722848 | A | G | 1 | a0001c0001t0001g0119 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.943+3907A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74722848 | |||||||
| chr7:74723123 | G | GT | 83 | a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0029 others(80): Show |
83 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(80): Show |
intron_variant | MODIFIER | c.943+4200dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723123 | ||||||
| chr7:74723123 | G | GTT | 5 | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0002g0041 others(2): Show |
5 | HG00735.hp2 HG02055.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.943+4199_943+4200d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723123 | ||||||
| chr7:74723274 | C | T | 2 | a0001c0001t0003g0018 a0001c0001t0003g0020 |
2 | HG01070.hp2 HG01071.hp2 |
intron_variant | MODIFIER | c.943+4333C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723274 | |||||||
| chr7:74723293 | T | C | 1 | a0001c0002t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.943+4352T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723293 | |||||||
| chr7:74723428 | C | CCTTTTTT others(17): Show |
2 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.943+4487_943+4488i others(26): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723428 | |||||||
| chr7:74723428 | C | CCTTTTTT others(30): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.943+4487_943+4488i others(39): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723428 | |||||||
| chr7:74723428 | C | CTTTTTTT others(2): Show |
69 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(66): Show |
69 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.943+4499_943+4507d others(11): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723428 | C | CTTTTTTT others(3): Show |
20 | a0001c0001t0001g0030 a0001c0001t0001g0050 a0001c0001t0001g0051 others(17): Show |
20 | HG00673.hp1 HG00738.hp1 HG00738.hp2 others(17): Show |
intron_variant | MODIFIER | c.943+4498_943+4507d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723428 | C | CTTTTTTT others(6): Show |
8 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 others(5): Show |
8 | HG02258.hp1 HG02723.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.943+4495_943+4507d others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723428 | C | CTTTTTTT others(7): Show |
12 | a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0058 others(9): Show |
12 | HG00735.hp1 HG02056.hp1 HG02622.hp2 others(9): Show |
intron_variant | MODIFIER | c.943+4494_943+4507d others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723428 | C | CTTTTTTT others(8): Show |
11 | a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0068 others(8): Show |
11 | HG01109.hp1 HG02109.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.943+4493_943+4507d others(17): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723428 | C | CTTTTTTT others(9): Show |
6 | a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0089 others(3): Show |
6 | HG00140.hp1 HG01169.hp2 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.943+4492_943+4507d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723428 | C | CTTTTTTT others(10): Show |
2 | a0001c0001t0001g0066 a0001c0001t0001g0081 |
2 | HG00639.hp2 HG02055.hp1 |
intron_variant | MODIFIER | c.943+4491_943+4507d others(19): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723428 | C | CTTTTTTT others(11): Show |
1 | a0001c0001t0001g0077 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.943+4490_943+4507d others(20): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723428 | ||||||
| chr7:74723429 | T | C | 3 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 |
3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.943+4488T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723429 | |||||||
| chr7:74723678 | G | A | 1 | a0001c0001t0002g0124 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.943+4737G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723678 | |||||||
| chr7:74723718 | A | G | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.943+4777A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723718 | |||||||
| chr7:74723788 | C | A | 137 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(134): Show |
137 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(134): Show |
intron_variant | MODIFIER | c.943+4847C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723788 | |||||||
| chr7:74723854 | GA | G | 9 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(6): Show |
9 | HG01074.hp1 HG01074.hp2 HG02148.hp1 others(6): Show |
intron_variant | MODIFIER | c.944-4919delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74723854 | ||||||
| chr7:74723900 | C | T | 1 | a0001c0001t0001g0062 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.944-4886C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74723900 | |||||||
| chr7:74724085 | A | G | 4 | a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0157 others(1): Show |
4 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-4701A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724085 | |||||||
| chr7:74724101 | T | C | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-4685T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724101 | |||||||
| chr7:74724270 | C | T | 38 | a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 others(35): Show |
38 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(35): Show |
intron_variant | MODIFIER | c.944-4516C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724270 | |||||||
| chr7:74724321 | A | G | 2 | a0001c0001t0001g0080 a0001c0001t0001g0081 |
2 | HG00639.hp2 HG02630.hp1 |
intron_variant | MODIFIER | c.944-4465A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724321 | |||||||
| chr7:74724538 | C | T | 2 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.944-4248C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724538 | |||||||
| chr7:74724607 | C | G | 42 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(39): Show |
42 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(39): Show |
intron_variant | MODIFIER | c.944-4179C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724607 | |||||||
| chr7:74724656 | T | G | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.944-4130T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724656 | |||||||
| chr7:74724798 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.944-3988G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724798 | |||||||
| chr7:74724805 | C | G | 1 | a0001c0001t0002g0170 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.944-3981C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74724805 | |||||||
| chr7:74725138 | T | C | 2 | a0001c0002t0001g0099 a0001c0002t0001g0114 |
2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.944-3648T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725138 | |||||||
| chr7:74725148 | A | G | 2 | a0001c0002t0001g0099 a0001c0002t0001g0114 |
2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.944-3638A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725148 | |||||||
| chr7:74725166 | T | G | 4 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(1): Show |
4 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-3620T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725166 | |||||||
| chr7:74725273 | T | G | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-3513T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725273 | |||||||
| chr7:74725276 | A | G | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-3510A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725276 | |||||||
| chr7:74725287 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.944-3499G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725287 | |||||||
| chr7:74725531 | T | TA | 136 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(133): Show |
136 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(133): Show |
intron_variant | MODIFIER | c.944-3242dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74725531 | ||||||
| chr7:74725717 | C | T | 87 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(84): Show |
87 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(84): Show |
intron_variant | MODIFIER | c.944-3069C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74725717 | |||||||
| chr7:74725845 | C | CT | 5 | a0001c0001t0001g0062 a0001c0001t0001g0119 a0001c0001t0002g0031 others(2): Show |
5 | HG01346.hp2 HG03041.hp2 NA19056.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-2928dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74725845 | ||||||
| chr7:74726096 | T | C | 1 | a0001c0001t0001g0029 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.944-2690T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726096 | |||||||
| chr7:74726127 | A | ACATAAAC others(1): Show |
4 | a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 others(1): Show |
4 | HG02895.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-2659_944-2658i others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726127 | |||||||
| chr7:74726130 | A | T | 4 | a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0046 others(1): Show |
4 | HG02895.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.944-2656A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726130 | |||||||
| chr7:74726349 | T | C | 1 | a0002c0003t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.944-2437T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726349 | |||||||
| chr7:74726417 | T | C | 3 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.944-2369T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726417 | |||||||
| chr7:74726591 | C | G | 131 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(128): Show |
131 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(128): Show |
intron_variant | MODIFIER | c.944-2195C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726591 | |||||||
| chr7:74726679 | A | G | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.944-2107A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726679 | |||||||
| chr7:74726834 | C | CAGAT | 34 | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0050 others(31): Show |
34 | HG00099.hp2 HG00673.hp1 HG00735.hp2 others(31): Show |
intron_variant | MODIFIER | c.944-1904_944-1901d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | ||||||
| chr7:74726834 | C | CAGATAGA others(1): Show |
13 | a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0123 others(10): Show |
13 | HG00639.hp1 HG01192.hp2 HG02071.hp1 others(10): Show |
intron_variant | MODIFIER | c.944-1908_944-1901d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | ||||||
| chr7:74726834 | C | CAGATAGA others(5): Show |
3 | a0001c0001t0002g0113 a0001c0002t0001g0106 a0001c0002t0001g0109 |
3 | HG01175.hp2 HG01993.hp2 HG04184.hp2 |
intron_variant | MODIFIER | c.944-1912_944-1901d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | ||||||
| chr7:74726834 | CAGAT | C | 34 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(31): Show |
34 | HG00140.hp1 HG00639.hp2 HG01071.hp1 others(31): Show |
intron_variant | MODIFIER | c.944-1904_944-1901d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | ||||||
| chr7:74726834 | CAGATAGA others(1): Show |
C | 10 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(7): Show |
10 | HG01891.hp2 HG02280.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.944-1908_944-1901d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | ||||||
| chr7:74726834 | CAGATAGA others(9): Show |
C | 8 | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(5): Show |
8 | HG00673.hp2 HG02056.hp1 NA18947.hp2 others(5): Show |
intron_variant | MODIFIER | c.944-1916_944-1901d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726834 | ||||||
| chr7:74726899 | A | AATAG | 34 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0058 others(31): Show |
34 | HG00639.hp1 HG00673.hp2 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.944-1845_944-1842d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726899 | A | AATAGATA others(1): Show |
8 | a0001c0001t0001g0075 a0001c0001t0001g0119 a0001c0001t0002g0031 others(5): Show |
8 | HG00099.hp1 HG01258.hp2 HG02486.hp2 others(5): Show |
intron_variant | MODIFIER | c.944-1849_944-1842d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726899 | A | AATAGATA others(5): Show |
1 | a0001c0002t0001g0116 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.944-1853_944-1842d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726899 | AATAG | A | 38 | a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0074 others(35): Show |
38 | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(35): Show |
intron_variant | MODIFIER | c.944-1845_944-1842d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726899 | AATAGATA others(1): Show |
A | 14 | a0001c0001t0001g0050 a0001c0001t0001g0053 a0001c0001t0001g0059 others(11): Show |
14 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.944-1849_944-1842d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726899 | AATAGATA others(5): Show |
A | 1 | a0001c0001t0002g0131 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.944-1853_944-1842d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726899 | AATAGATA others(9): Show |
A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.944-1857_944-1842d others(18): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726899 | AATAGATA others(13): Show |
A | 1 | a0001c0001t0002g0013 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.944-1861_944-1842d others(22): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726899 | ||||||
| chr7:74726941 | TAGAA | T | 6 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0088 others(3): Show |
6 | HG00140.hp1 HG01978.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.944-1840_944-1837d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | 74726941 | ||||||
| chr7:74726962 | G | T | 1 | a0001c0001t0001g0051 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.944-1824G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74726962 | |||||||
| chr7:74727575 | T | A | 1 | a0001c0001t0001g0065 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.944-1211T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74727575 | |||||||
| chr7:74727619 | A | C | 2 | a0001c0001t0002g0143 a0001c0001t0002g0144 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.944-1167A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74727619 | |||||||
| chr7:74727817 | G | A | 1 | a0001c0001t0003g0019 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.944-969G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74727817 | |||||||
| chr7:74728016 | C | A | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 |
3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.944-770C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74728016 | |||||||
| chr7:74728017 | A | T | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 |
3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.944-769A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | 74728017 | |||||||
| chr7:74729056 | A | C | 2 | a0001c0002t0001g0111 a0001c0002t0001g0115 |
2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1054+160A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729056 | |||||||
| chr7:74729220 | C | CT | 12 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(9): Show |
12 | HG00099.hp1 HG01070.hp1 HG01074.hp2 others(9): Show |
intron_variant | MODIFIER | c.1054+339dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | INFO_REALIGN_3_PRIME | chr7 | 74729220 | ||||||
| chr7:74729316 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1054+420G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729316 | |||||||
| chr7:74729405 | T | A | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1054+509T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729405 | |||||||
| chr7:74729407 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1054+511G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729407 | |||||||
| chr7:74729504 | G | A | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1054+608G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729504 | |||||||
| chr7:74729743 | G | T | 1 | a0001c0001t0002g0122 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1055-486G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729743 | |||||||
| chr7:74729837 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1055-392G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729837 | |||||||
| chr7:74729839 | G | C | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1055-390G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729839 | |||||||
| chr7:74729902 | G | A | 1 | a0001c0001t0002g0159 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1055-327G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 13/34 | chr7 | 74729902 | |||||||
| chr7:74730526 | G | A | 130 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(127): Show |
130 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
intron_variant | MODIFIER | c.1120+232G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730526 | |||||||
| chr7:74730645 | C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+351C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730645 | |||||||
| chr7:74730673 | C | A | 1 | a0001c0001t0001g0065 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1120+379C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730673 | |||||||
| chr7:74730713 | C | CT | 24 | a0001c0001t0001g0028 a0001c0001t0001g0055 a0001c0001t0001g0057 others(21): Show |
24 | HG00140.hp2 HG00639.hp2 HG01258.hp2 others(21): Show |
intron_variant | MODIFIER | c.1120+446dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | ||||||
| chr7:74730713 | C | CTT | 62 | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 others(59): Show |
62 | HG00099.hp1 HG00639.hp1 HG00673.hp1 others(59): Show |
intron_variant | MODIFIER | c.1120+445_1120+446d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | ||||||
| chr7:74730713 | C | CTTT | 15 | a0001c0001t0001g0120 a0001c0001t0002g0042 a0001c0001t0002g0113 others(12): Show |
15 | HG01175.hp1 HG01175.hp2 HG01192.hp2 others(12): Show |
intron_variant | MODIFIER | c.1120+444_1120+446d others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | ||||||
| chr7:74730713 | CTTT | C | 5 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(2): Show |
5 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.1120+444_1120+446d others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | ||||||
| chr7:74730713 | CTTTTTTT others(6): Show |
C | 3 | a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0129 |
3 | HG02148.hp2 HG02293.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.1120+434_1120+446d others(15): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | ||||||
| chr7:74730713 | CTTTTTTT others(7): Show |
C | 5 | a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0157 others(2): Show |
5 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(2): Show |
intron_variant | MODIFIER | c.1120+433_1120+446d others(16): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74730713 | ||||||
| chr7:74730770 | A | G | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+476A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730770 | |||||||
| chr7:74730793 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+499G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730793 | |||||||
| chr7:74730968 | A | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1120+674A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730968 | |||||||
| chr7:74730975 | A | G | 147 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(144): Show |
147 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.1120+681A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74730975 | |||||||
| chr7:74731116 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+822G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731116 | |||||||
| chr7:74731133 | T | G | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.1120+839T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731133 | |||||||
| chr7:74731220 | A | C | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1120+926A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731220 | |||||||
| chr7:74731296 | A | G | 1 | a0001c0002t0001g0108 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1120+1002A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731296 | |||||||
| chr7:74731552 | GT | G | 155 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0027 others(152): Show |
155 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(152): Show |
intron_variant | MODIFIER | c.1121-913delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74731552 | ||||||
| chr7:74731623 | T | C | 1 | a0001c0004t0001g0104 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1121-856T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731623 | |||||||
| chr7:74731657 | G | A | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.1121-822G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731657 | |||||||
| chr7:74731712 | T | G | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1121-767T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731712 | |||||||
| chr7:74731725 | A | G | 8 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(5): Show |
8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.1121-754A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731725 | |||||||
| chr7:74731856 | A | G | 1 | a0001c0001t0002g0048 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.1121-623A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731856 | |||||||
| chr7:74731916 | G | A | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1121-563G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731916 | |||||||
| chr7:74731942 | A | C | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1121-537A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731942 | |||||||
| chr7:74731953 | C | A | 1 | a0001c0004t0001g0104 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1121-526C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74731953 | |||||||
| chr7:74732057 | C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1121-422C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732057 | |||||||
| chr7:74732091 | A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1121-388A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732091 | |||||||
| chr7:74732142 | C | CAT | 5 | a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0120 others(2): Show |
5 | HG02451.hp1 HG03017.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.1121-321_1121-320d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74732142 | ||||||
| chr7:74732142 | C | CATAT | 27 | a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0063 others(24): Show |
27 | HG00140.hp1 HG00639.hp2 HG00735.hp1 others(24): Show |
intron_variant | MODIFIER | c.1121-323_1121-320d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74732142 | ||||||
| chr7:74732142 | C | CATATAT | 10 | a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 others(7): Show |
10 | HG00673.hp2 HG02056.hp1 HG02622.hp2 others(7): Show |
intron_variant | MODIFIER | c.1121-325_1121-320d others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr7 | 74732142 | ||||||
| chr7:74732243 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1121-236G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732243 | |||||||
| chr7:74732322 | C | T | 3 | a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0163 |
3 | HG02735.hp1 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.1121-157C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732322 | |||||||
| chr7:74732335 | C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1121-144C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 14/34 | chr7 | 74732335 | |||||||
| chr7:74732974 | T | TA | 3 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.1304+312_1304+313i others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | chr7 | 74732974 | |||||||
| chr7:74732975 | T | A | 3 | a0001c0001t0001g0079 a0001c0001t0001g0119 a0001c0002t0001g0100 |
3 | HG01515.hp2 HG02056.hp1 NA20752.hp1 |
intron_variant | MODIFIER | c.1304+313T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | chr7 | 74732975 | |||||||
| chr7:74733768 | G | GA | 130 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(127): Show |
130 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(127): Show |
intron_variant | MODIFIER | c.1305-141dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | INFO_REALIGN_3_PRIME | chr7 | 74733768 | ||||||
| chr7:74733768 | G | GAA | 6 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(3): Show |
6 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(3): Show |
intron_variant | MODIFIER | c.1305-142_1305-141d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 15/34 | INFO_REALIGN_3_PRIME | chr7 | 74733768 | ||||||
| chr7:74734279 | T | C | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1363+298T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734279 | |||||||
| chr7:74734448 | A | G | 16 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(13): Show |
16 | HG01074.hp2 HG01109.hp2 HG01515.hp2 others(13): Show |
intron_variant | MODIFIER | c.1363+467A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734448 | |||||||
| chr7:74734485 | G | A | 1 | a0001c0001t0002g0049 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1363+504G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734485 | |||||||
| chr7:74734532 | C | T | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1363+551C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734532 | |||||||
| chr7:74734542 | C | T | 1 | a0001c0001t0002g0122 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1363+561C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734542 | |||||||
| chr7:74734929 | T | C | 2 | a0001c0001t0002g0122 a0001c0001t0002g0128 |
2 | HG02615.hp1 HG03225.hp2 |
intron_variant | MODIFIER | c.1364-532T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74734929 | |||||||
| chr7:74735072 | A | G | 1 | a0001c0001t0002g0154 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1364-389A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74735072 | |||||||
| chr7:74735132 | G | A | 2 | a0001c0001t0002g0047 a0001c0001t0002g0086 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.1364-329G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74735132 | |||||||
| chr7:74735194 | A | G | 1 | a0001c0002t0001g0109 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1364-267A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 16/34 | chr7 | 74735194 | |||||||
| chr7:74735655 | G | GT | 14 | a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0002g0132 others(11): Show |
14 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.1435+135dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | INFO_REALIGN_3_PRIME | chr7 | 74735655 | ||||||
| chr7:74735655 | GT | G | 11 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(8): Show |
11 | HG00735.hp2 HG01074.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.1435+135delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | INFO_REALIGN_3_PRIME | chr7 | 74735655 | ||||||
| chr7:74735656 | T | G | 10 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(7): Show |
10 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.1435+124T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735656 | |||||||
| chr7:74735666 | T | G | 10 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(7): Show |
10 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.1435+134T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735666 | |||||||
| chr7:74735667 | T | G | 12 | a0001c0001t0001g0021 a0001c0001t0002g0152 a0001c0002t0001g0001 others(9): Show |
12 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1435+135T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735667 | |||||||
| chr7:74735669 | G | T | 10 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(7): Show |
10 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.1435+137G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735669 | |||||||
| chr7:74735670 | G | T | 11 | a0001c0001t0001g0021 a0001c0002t0001g0001 a0001c0002t0001g0098 others(8): Show |
11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1435+138G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735670 | |||||||
| chr7:74735671 | T | G | 3 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0007t0002g0036 |
3 | HG00735.hp2 HG01258.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1435+139T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735671 | |||||||
| chr7:74735761 | C | T | 2 | a0001c0001t0002g0130 a0001c0001t0002g0137 |
2 | HG01978.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.1435+229C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735761 | |||||||
| chr7:74735762 | G | A | 1 | a0001c0001t0001g0065 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1435+230G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735762 | |||||||
| chr7:74735788 | C | T | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1435+256C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735788 | |||||||
| chr7:74735915 | C | T | 1 | a0001c0002t0001g0098 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1435+383C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735915 | |||||||
| chr7:74735960 | C | T | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.1435+428C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74735960 | |||||||
| chr7:74736034 | G | A | 2 | a0001c0001t0001g0057 a0001c0001t0001g0078 |
2 | NA19065.hp2 NA19082.hp2 |
intron_variant | MODIFIER | c.1436-466G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74736034 | |||||||
| chr7:74736293 | A | T | 1 | a0001c0001t0002g0159 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.1436-207A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74736293 | |||||||
| chr7:74736406 | T | G | 1 | a0001c0001t0002g0160 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.1436-94T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 17/34 | chr7 | 74736406 | |||||||
| chr7:74736915 | G | A | 127 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(124): Show |
127 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(124): Show |
intron_variant | MODIFIER | c.1619+232G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74736915 | |||||||
| chr7:74737064 | A | G | 13 | a0001c0001t0001g0021 a0001c0001t0002g0142 a0001c0001t0002g0152 others(10): Show |
13 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1619+381A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737064 | |||||||
| chr7:74737201 | T | TAA | 11 | a0001c0001t0001g0021 a0001c0002t0001g0001 a0001c0002t0001g0098 others(8): Show |
11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1619+529_1619+530d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr7 | 74737201 | ||||||
| chr7:74737217 | A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1619+534A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737217 | |||||||
| chr7:74737227 | T | C | 13 | a0001c0001t0001g0021 a0001c0001t0002g0142 a0001c0001t0002g0152 others(10): Show |
13 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1619+544T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737227 | |||||||
| chr7:74737275 | C | T | 12 | a0001c0001t0002g0142 a0001c0001t0002g0152 a0001c0002t0001g0001 others(9): Show |
12 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(9): Show |
intron_variant | MODIFIER | c.1619+592C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737275 | |||||||
| chr7:74737483 | CAG | C | 11 | a0001c0001t0001g0021 a0001c0002t0001g0001 a0001c0002t0001g0098 others(8): Show |
11 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(8): Show |
intron_variant | MODIFIER | c.1620-559_1620-558d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr7 | 74737483 | ||||||
| chr7:74737601 | G | A | 144 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(141): Show |
144 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(141): Show |
intron_variant | MODIFIER | c.1620-444G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737601 | |||||||
| chr7:74737774 | G | C | 13 | a0001c0001t0001g0021 a0001c0001t0002g0142 a0001c0001t0002g0152 others(10): Show |
13 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(10): Show |
intron_variant | MODIFIER | c.1620-271G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74737774 | |||||||
| chr7:74738034 | T | C | 10 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(7): Show |
10 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(7): Show |
intron_variant | MODIFIER | c.1620-11T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 18/34 | chr7 | 74738034 | |||||||
| chr7:74738404 | G | A | 135 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show |
135 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(132): Show |
intron_variant | MODIFIER | c.1678+301G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74738404 | |||||||
| chr7:74738423 | G | GA | 22 | a0001c0001t0001g0066 a0001c0001t0001g0084 a0001c0001t0002g0113 others(19): Show |
22 | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.1678+338dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738423 | ||||||
| chr7:74738423 | GA | G | 7 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(4): Show |
7 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.1678+338delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738423 | ||||||
| chr7:74738459 | G | T | 139 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(136): Show |
139 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(136): Show |
intron_variant | MODIFIER | c.1678+356G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74738459 | |||||||
| chr7:74738594 | CA | C | 6 | a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 others(3): Show |
6 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(3): Show |
intron_variant | MODIFIER | c.1678+493delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738594 | ||||||
| chr7:74738735 | A | G | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1678+632A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74738735 | |||||||
| chr7:74738896 | CAA | C | 138 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(135): Show |
138 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(135): Show |
intron_variant | MODIFIER | c.1678+795_1678+796d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74738896 | ||||||
| chr7:74739024 | C | CT | 8 | a0001c0001t0003g0016 a0001c0002t0001g0001 a0001c0002t0001g0099 others(5): Show |
8 | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(5): Show |
intron_variant | MODIFIER | c.1678+945dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739024 | C | CTT | 5 | a0001c0002t0001g0098 a0001c0002t0001g0101 a0001c0002t0001g0102 others(2): Show |
5 | HG02615.hp2 HG03017.hp1 HG03831.hp2 others(2): Show |
intron_variant | MODIFIER | c.1678+944_1678+945d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739024 | C | CTTTTTTT others(3): Show |
1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1678+936_1678+945d others(12): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739024 | C | CTTTTTTT others(4): Show |
1 | a0002c0003t0001g0010 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.1678+935_1678+945d others(13): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739024 | C | CTTTTTTT others(5): Show |
1 | a0002c0003t0001g0008 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1678+934_1678+945d others(14): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739024 | C | CTTTTTTT others(20): Show |
1 | a0002c0003t0001g0009 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.1678+945_1678+946i others(29): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739024 | CTTTT | C | 6 | a0001c0001t0001g0029 a0001c0001t0001g0070 a0001c0001t0002g0011 others(3): Show |
6 | HG01071.hp1 HG01074.hp1 HG01109.hp1 others(3): Show |
intron_variant | MODIFIER | c.1678+942_1678+945d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739024 | CTTTTT | C | 126 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.1678+941_1678+945d others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74739024 | ||||||
| chr7:74739054 | G | A | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1678+951G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739054 | |||||||
| chr7:74739143 | G | A | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1678+1040G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739143 | |||||||
| chr7:74739350 | G | A | 8 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0100 others(5): Show |
8 | HG01109.hp2 HG01515.hp2 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.1678+1247G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739350 | |||||||
| chr7:74739476 | A | G | 3 | a0001c0001t0001g0021 a0001c0001t0002g0127 a0001c0004t0001g0104 |
3 | HG01192.hp2 NA19030.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.1678+1373A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739476 | |||||||
| chr7:74739514 | A | G | 1 | a0001c0002t0001g0099 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1678+1411A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739514 | |||||||
| chr7:74739548 | T | C | 1 | a0001c0001t0002g0132 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1678+1445T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74739548 | |||||||
| chr7:74740780 | T | G | 4 | a0001c0001t0001g0021 a0001c0001t0002g0031 a0001c0001t0002g0032 others(1): Show |
4 | HG02559.hp1 HG03041.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.1679-2669T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740780 | |||||||
| chr7:74740892 | C | G | 1 | a0001c0001t0002g0033 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.1679-2557C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740892 | |||||||
| chr7:74740902 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1679-2547C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740902 | |||||||
| chr7:74740982 | A | C | 1 | a0001c0002t0001g0100 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1679-2467A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740982 | |||||||
| chr7:74740998 | C | T | 1 | a0001c0002t0001g0100 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1679-2451C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74740998 | |||||||
| chr7:74741058 | T | TTTTG | 136 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(133): Show |
136 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(133): Show |
intron_variant | MODIFIER | c.1679-2375_1679-237 others(8): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | INFO_REALIGN_3_PRIME | chr7 | 74741058 | ||||||
| chr7:74741123 | A | T | 2 | a0001c0002t0001g0116 a0001c0002t0001g0117 |
2 | HG01256.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.1679-2326A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741123 | |||||||
| chr7:74741240 | T | C | 144 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(141): Show |
144 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(141): Show |
intron_variant | MODIFIER | c.1679-2209T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741240 | |||||||
| chr7:74741284 | C | T | 2 | a0001c0001t0001g0027 a0001c0001t0001g0028 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1679-2165C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741284 | |||||||
| chr7:74741671 | G | A | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0002t0001g0100 |
3 | HG01515.hp2 HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1679-1778G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741671 | |||||||
| chr7:74741863 | T | C | 3 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0002t0001g0100 |
3 | HG01515.hp2 HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1679-1586T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741863 | |||||||
| chr7:74741875 | G | A | 2 | a0001c0002t0001g0111 a0001c0002t0001g0115 |
2 | HG01168.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.1679-1574G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74741875 | |||||||
| chr7:74742222 | C | G | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.1679-1227C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742222 | |||||||
| chr7:74742265 | C | T | 2 | a0001c0001t0001g0053 a0001c0001t0001g0059 |
2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.1679-1184C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742265 | |||||||
| chr7:74742509 | T | C | 2 | a0001c0001t0001g0051 a0001c0001t0002g0040 |
2 | HG01258.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.1679-940T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742509 | |||||||
| chr7:74742669 | T | C | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1679-780T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742669 | |||||||
| chr7:74742692 | G | T | 4 | a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0158 others(1): Show |
4 | HG02155.hp1 HG03831.hp1 NA18960.hp2 others(1): Show |
intron_variant | MODIFIER | c.1679-757G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742692 | |||||||
| chr7:74742734 | G | A | 1 | a0001c0002t0001g0100 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1679-715G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742734 | |||||||
| chr7:74742744 | C | T | 1 | a0001c0002t0001g0103 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1679-705C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74742744 | |||||||
| chr7:74743047 | G | A | 1 | a0001c0001t0001g0058 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1679-402G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743047 | |||||||
| chr7:74743048 | T | C | 1 | a0001c0002t0001g0100 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1679-401T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743048 | |||||||
| chr7:74743089 | G | A | 2 | a0001c0001t0002g0011 a0001c0001t0002g0012 |
2 | HG01071.hp1 HG01074.hp1 |
intron_variant | MODIFIER | c.1679-360G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743089 | |||||||
| chr7:74743137 | C | T | 2 | a0001c0001t0002g0129 a0001c0001t0002g0160 |
2 | HG02148.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.1679-312C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743137 | |||||||
| chr7:74743288 | G | A | 1 | a0001c0001t0001g0030 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1679-161G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743288 | |||||||
| chr7:74743302 | G | A | 1 | a0001c0001t0002g0153 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.1679-147G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743302 | |||||||
| chr7:74743317 | T | C | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.1679-132T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 19/34 | chr7 | 74743317 | |||||||
| chr7:74743612 | A | G | 3 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0002t0001g0002 |
3 | HG00639.hp2 HG02630.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.1750+92A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743612 | |||||||
| chr7:74743630 | T | C | 1 | a0001c0002t0001g0098 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1750+110T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743630 | |||||||
| chr7:74743650 | A | G | 1 | a0001c0002t0001g0100 | 1 | HG01515.hp2 | intron_variant | MODIFIER | c.1750+130A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743650 | |||||||
| chr7:74743664 | A | G | 37 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0051 others(34): Show |
37 | HG00140.hp2 HG00738.hp2 HG01071.hp1 others(34): Show |
intron_variant | MODIFIER | c.1750+144A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743664 | |||||||
| chr7:74743686 | A | C | 1 | a0001c0001t0002g0042 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.1750+166A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743686 | |||||||
| chr7:74743693 | C | T | 1 | a0001c0001t0001g0093 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.1750+173C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743693 | |||||||
| chr7:74743694 | G | T | 128 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(125): Show |
128 | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(125): Show |
intron_variant | MODIFIER | c.1750+174G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743694 | |||||||
| chr7:74743700 | G | C | 1 | a0001c0002t0001g0108 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1750+180G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743700 | |||||||
| chr7:74743701 | A | G | 1 | a0001c0002t0001g0108 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1750+181A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743701 | |||||||
| chr7:74743711 | G | A | 54 | a0001c0001t0001g0007 a0001c0001t0001g0021 a0001c0001t0001g0027 others(51): Show |
54 | HG00140.hp1 HG00639.hp2 HG00735.hp1 others(51): Show |
intron_variant | MODIFIER | c.1750+191G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74743711 | |||||||
| chr7:74743883 | C | CA | 67 | a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0085 others(64): Show |
67 | HG00099.hp1 HG00639.hp1 HG00673.hp1 others(64): Show |
intron_variant | MODIFIER | c.1750+379dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr7 | 74743883 | ||||||
| chr7:74743883 | CA | C | 20 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(17): Show |
20 | HG00140.hp2 HG01074.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.1750+379delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr7 | 74743883 | ||||||
| chr7:74744574 | A | T | 4 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(1): Show |
4 | HG02622.hp2 HG02886.hp2 HG03041.hp1 others(1): Show |
intron_variant | MODIFIER | c.1751-184A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 20/34 | chr7 | 74744574 | |||||||
| chr7:74745175 | G | A | 18 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(15): Show |
18 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(15): Show |
intron_variant | MODIFIER | c.1934+234G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745175 | |||||||
| chr7:74745189 | T | C | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.1934+248T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745189 | |||||||
| chr7:74745306 | C | T | 2 | a0001c0001t0001g0029 a0001c0001t0001g0030 |
2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.1934+365C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745306 | |||||||
| chr7:74745352 | C | G | 3 | a0001c0001t0001g0076 a0001c0002t0001g0101 a0001c0002t0001g0102 |
3 | HG02572.hp2 HG03017.hp1 HG03831.hp2 |
intron_variant | MODIFIER | c.1934+411C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745352 | |||||||
| chr7:74745750 | A | G | 3 | a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0115 |
3 | HG01168.hp2 HG01169.hp1 HG02486.hp1 |
intron_variant | MODIFIER | c.1935-133A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745750 | |||||||
| chr7:74745754 | A | G | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1935-129A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745754 | |||||||
| chr7:74745847 | G | A | 2 | a0001c0001t0001g0051 a0001c0001t0001g0076 |
2 | HG02572.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1935-36G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 21/34 | chr7 | 74745847 | |||||||
| chr7:74746038 | G | A | 3 | a0001c0001t0001g0052 a0001c0001t0001g0060 a0001c0001t0001g0069 |
3 | HG02258.hp1 HG02723.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1993+97G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746038 | |||||||
| chr7:74746071 | T | A | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1993+130T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746071 | |||||||
| chr7:74746107 | T | A | 4 | a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0059 others(1): Show |
4 | HG02451.hp1 HG02572.hp2 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.1993+166T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746107 | |||||||
| chr7:74746108 | T | A | 126 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.1993+167T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746108 | |||||||
| chr7:74746108 | T | TA | 4 | a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0041 others(1): Show |
4 | HG00735.hp2 HG01258.hp1 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.1993+174dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | INFO_REALIGN_3_PRIME | chr7 | 74746108 | ||||||
| chr7:74746298 | T | C | 3 | a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0163 |
3 | HG02735.hp1 NA20752.hp2 NA20805.hp1 |
intron_variant | MODIFIER | c.1994-39T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 22/34 | chr7 | 74746298 | |||||||
| chr7:74746419 | C | T | 1 | a0001c0001t0002g0131 | 1 | NA19082.hp1 | splice_region_variant&intron_variant | LOW | c.2068+8C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746419 | |||||||
| chr7:74746451 | GT | G | 40 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(37): Show |
40 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.2068+43delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74746451 | ||||||
| chr7:74746737 | G | C | 148 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(145): Show |
148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
intron_variant | MODIFIER | c.2068+326G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746737 | |||||||
| chr7:74746842 | A | G | 1 | a0001c0001t0002g0134 | 1 | HG02293.hp1 | intron_variant | MODIFIER | c.2068+431A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746842 | |||||||
| chr7:74746861 | G | A | 2 | a0001c0001t0002g0140 a0001c0001t0002g0146 |
2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.2068+450G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746861 | |||||||
| chr7:74746877 | C | T | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2068+466C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746877 | |||||||
| chr7:74746926 | G | A | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2068+515G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74746926 | |||||||
| chr7:74747097 | A | G | 1 | a0001c0001t0002g0172 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.2068+686A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747097 | |||||||
| chr7:74747112 | C | T | 1 | a0001c0001t0001g0050 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2068+701C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747112 | |||||||
| chr7:74747229 | T | C | 1 | a0001c0001t0002g0155 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.2069-786T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747229 | |||||||
| chr7:74747305 | C | T | 1 | a0001c0001t0002g0045 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2069-710C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747305 | |||||||
| chr7:74747310 | A | G | 94 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(91): Show |
94 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(91): Show |
intron_variant | MODIFIER | c.2069-705A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747310 | |||||||
| chr7:74747450 | C | T | 2 | a0001c0001t0002g0140 a0001c0001t0002g0146 |
2 | HG01256.hp2 HG01993.hp1 |
intron_variant | MODIFIER | c.2069-565C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747450 | |||||||
| chr7:74747792 | C | CAA | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2069-206_2069-205d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74747792 | ||||||
| chr7:74747792 | CA | C | 135 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(132): Show |
135 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(132): Show |
intron_variant | MODIFIER | c.2069-205delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74747792 | ||||||
| chr7:74747806 | AAAAAG | A | 5 | a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0018 others(2): Show |
5 | HG01070.hp2 HG01071.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.2069-206_2069-202d others(7): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr7 | 74747806 | ||||||
| chr7:74747808 | A | G | 2 | a0001c0001t0001g0021 a0001c0001t0002g0031 |
2 | HG03041.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.2069-207A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747808 | |||||||
| chr7:74747856 | A | C | 1 | a0001c0001t0001g0076 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2069-159A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747856 | |||||||
| chr7:74747878 | G | T | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2069-137G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747878 | |||||||
| chr7:74747983 | T | A | 1 | a0001c0001t0001g0065 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.2069-32T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 23/34 | chr7 | 74747983 | |||||||
| chr7:74748302 | C | T | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2170+186C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748302 | |||||||
| chr7:74748521 | G | A | 1 | a0001c0001t0001g0087 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2170+405G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748521 | |||||||
| chr7:74748548 | T | C | 1 | a0001c0002t0001g0102 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2170+432T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748548 | |||||||
| chr7:74748704 | G | C | 1 | a0001c0005t0002g0165 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.2171-321G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748704 | |||||||
| chr7:74748709 | C | T | 128 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0028 others(125): Show |
128 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(125): Show |
intron_variant | MODIFIER | c.2171-316C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748709 | |||||||
| chr7:74748876 | C | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2171-149C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 24/34 | chr7 | 74748876 | |||||||
| chr7:74749264 | G | T | 1 | a0001c0004t0001g0104 | 1 | NA21309.hp2 | splice_region_variant&intron_variant | LOW | c.2237-4G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 25/34 | chr7 | 74749264 | |||||||
| chr7:74749686 | C | G | 2 | a0001c0001t0001g0053 a0001c0001t0001g0059 |
2 | HG02451.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.2420+235C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749686 | |||||||
| chr7:74749688 | A | G | 6 | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(3): Show |
6 | HG02622.hp2 HG02723.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.2420+237A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749688 | |||||||
| chr7:74749764 | T | C | 1 | a0001c0001t0002g0013 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2420+313T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749764 | |||||||
| chr7:74749884 | A | G | 2 | a0001c0002t0001g0099 a0001c0002t0001g0114 |
2 | NA18946.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.2420+433A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74749884 | |||||||
| chr7:74750155 | AATGGGCC others(10): Show |
A | 2 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.2420+707_2420+723d others(19): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750155 | ||||||
| chr7:74750277 | C | CA | 58 | a0001c0001t0001g0057 a0001c0001t0001g0085 a0001c0001t0002g0045 others(55): Show |
58 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.2420+844dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750277 | ||||||
| chr7:74750277 | C | CAA | 5 | a0001c0001t0002g0128 a0001c0001t0002g0132 a0001c0001t0002g0142 others(2): Show |
5 | HG02071.hp2 HG02615.hp1 HG03704.hp1 others(2): Show |
intron_variant | MODIFIER | c.2420+843_2420+844d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750277 | ||||||
| chr7:74750295 | A | AG | 2 | a0001c0001t0002g0047 a0001c0001t0002g0086 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2420+844_2420+845i others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750295 | |||||||
| chr7:74750377 | G | A | 4 | a0001c0001t0002g0134 a0001c0001t0002g0147 a0001c0001t0002g0157 others(1): Show |
4 | HG01070.hp1 HG01192.hp1 HG02148.hp1 others(1): Show |
intron_variant | MODIFIER | c.2420+926G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750377 | |||||||
| chr7:74750587 | T | C | 7 | a0001c0001t0002g0135 a0001c0001t0002g0148 a0001c0001t0002g0156 others(4): Show |
7 | HG00738.hp1 HG02071.hp2 HG02155.hp1 others(4): Show |
intron_variant | MODIFIER | c.2421-774T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750587 | |||||||
| chr7:74750593 | C | CT | 13 | a0001c0001t0001g0088 a0001c0002t0001g0003 a0001c0002t0001g0004 others(10): Show |
13 | HG01256.hp1 HG01258.hp2 HG01515.hp2 others(10): Show |
intron_variant | MODIFIER | c.2421-740dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | ||||||
| chr7:74750593 | CT | C | 56 | a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0051 others(53): Show |
56 | HG00639.hp2 HG00673.hp1 HG00673.hp2 others(53): Show |
intron_variant | MODIFIER | c.2421-740delT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | ||||||
| chr7:74750593 | CTT | C | 58 | a0001c0001t0001g0007 a0001c0001t0001g0027 a0001c0001t0001g0028 others(55): Show |
58 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(55): Show |
intron_variant | MODIFIER | c.2421-741_2421-740d others(4): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | ||||||
| chr7:74750593 | CTTT | C | 5 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0002c0003t0001g0008 others(2): Show |
5 | HG01074.hp2 HG02895.hp2 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.2421-742_2421-740d others(5): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | ||||||
| chr7:74750593 | CTTTTTTT others(1): Show |
C | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2421-747_2421-740d others(10): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr7 | 74750593 | ||||||
| chr7:74750636 | C | T | 3 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 |
3 | HG02145.hp1 HG02886.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.2421-725C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750636 | |||||||
| chr7:74750901 | C | T | 3 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 |
3 | HG02622.hp1 HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.2421-460C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750901 | |||||||
| chr7:74750905 | CAATG | C | 134 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(131): Show |
134 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(131): Show |
intron_variant | MODIFIER | c.2421-455_2421-452d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750905 | |||||||
| chr7:74750954 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2421-407C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74750954 | |||||||
| chr7:74751035 | C | T | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2421-326C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74751035 | |||||||
| chr7:74751058 | G | C | 147 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(144): Show |
147 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(144): Show |
intron_variant | MODIFIER | c.2421-303G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 26/34 | chr7 | 74751058 | |||||||
| chr7:74751490 | C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2476+74C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751490 | |||||||
| chr7:74751526 | A | AT | 2 | a0001c0001t0001g0029 a0001c0001t0001g0030 |
2 | HG02145.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.2476+111dupT | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr7 | 74751526 | ||||||
| chr7:74751673 | C | T | 2 | a0001c0001t0001g0027 a0001c0001t0001g0028 |
2 | HG02451.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.2476+257C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751673 | |||||||
| chr7:74751677 | T | G | 2 | a0001c0001t0001g0119 a0001c0001t0005g0118 |
2 | NA18973.hp2 NA20752.hp1 |
intron_variant | MODIFIER | c.2476+261T>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751677 | |||||||
| chr7:74751726 | G | A | 1 | a0001c0001t0003g0016 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.2476+310G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751726 | |||||||
| chr7:74751880 | TGTGA | T | 2 | a0001c0001t0002g0047 a0001c0001t0002g0086 |
2 | HG02258.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.2477-206_2477-203d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr7 | 74751880 | ||||||
| chr7:74751899 | C | T | 3 | a0001c0001t0002g0135 a0001c0001t0002g0170 a0001c0001t0007g0149 |
3 | HG00738.hp1 HG02071.hp2 NA18612.hp1 |
intron_variant | MODIFIER | c.2477-191C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 27/34 | chr7 | 74751899 | |||||||
| chr7:74752177 | G | T | 85 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(82): Show |
85 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(82): Show |
splice_region_variant&intron_variant | LOW | c.2557+7G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752177 | |||||||
| chr7:74752216 | G | C | 2 | a0001c0004t0001g0082 a0001c0004t0001g0104 |
2 | HG03225.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.2557+46G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752216 | |||||||
| chr7:74752353 | G | A | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2557+183G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752353 | |||||||
| chr7:74752402 | G | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2557+232G>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752402 | |||||||
| chr7:74752582 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2557+412G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752582 | |||||||
| chr7:74752901 | T | C | 1 | a0001c0001t0002g0128 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.2558-193T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74752901 | |||||||
| chr7:74753024 | T | A | 41 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(38): Show |
intron_variant | MODIFIER | c.2558-70T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | chr7 | 74753024 | |||||||
| chr7:74753040 | T | TA | 7 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(4): Show |
7 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(4): Show |
intron_variant | MODIFIER | c.2558-40dupA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr7 | 74753040 | ||||||
| chr7:74753258 | G | A | 6 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(3): Show |
6 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.2641+81G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | chr7 | 74753258 | |||||||
| chr7:74753426 | C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2641+249C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | chr7 | 74753426 | |||||||
| chr7:74753629 | A | C | 1 | a0001c0001t0001g0063 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2642-217A>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | chr7 | 74753629 | |||||||
| chr7:74753673 | CA | C | 5 | a0001c0001t0001g0050 a0001c0001t0001g0089 a0001c0001t0002g0123 others(2): Show |
5 | HG01169.hp2 HG01993.hp2 HG02735.hp2 others(2): Show |
intron_variant | MODIFIER | c.2642-159delA | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 29/34 | INFO_REALIGN_3_PRIME | chr7 | 74753673 | ||||||
| chr7:74754262 | G | C | 12 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(9): Show |
12 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.2825+233G>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754262 | |||||||
| chr7:74754545 | CAGTT | C | 3 | a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 |
3 | HG02965.hp2 HG03139.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.2825+519_2825+522d others(6): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr7 | 74754545 | ||||||
| chr7:74754558 | A | G | 1 | a0001c0001t0002g0173 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.2825+529A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754558 | |||||||
| chr7:74754612 | G | A | 1 | a0001c0007t0002g0036 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.2825+583G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754612 | |||||||
| chr7:74754640 | T | A | 3 | a0002c0003t0001g0008 a0002c0003t0001g0009 a0002c0003t0001g0010 |
3 | HG01074.hp2 HG02896.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.2825+611T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754640 | |||||||
| chr7:74754683 | T | C | 5 | a0001c0001t0003g0025 a0001c0001t0004g0022 a0001c0001t0004g0023 others(2): Show |
5 | HG01891.hp2 HG02280.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.2825+654T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754683 | |||||||
| chr7:74754742 | A | G | 1 | a0001c0001t0002g0145 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2825+713A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754742 | |||||||
| chr7:74754771 | T | C | 8 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(5): Show |
8 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(5): Show |
intron_variant | MODIFIER | c.2826-738T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754771 | |||||||
| chr7:74754936 | T | C | 1 | a0001c0002t0001g0101 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2826-573T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74754936 | |||||||
| chr7:74755073 | A | G | 143 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(140): Show |
143 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(140): Show |
intron_variant | MODIFIER | c.2826-436A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755073 | |||||||
| chr7:74755218 | A | G | 8 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(5): Show |
8 | HG01192.hp2 HG01891.hp1 HG02109.hp2 others(5): Show |
intron_variant | MODIFIER | c.2826-291A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755218 | |||||||
| chr7:74755270 | C | T | 4 | a0001c0001t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 others(1): Show |
4 | HG01074.hp2 HG02622.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.2826-239C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755270 | |||||||
| chr7:74755334 | C | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2826-175C>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 30/34 | chr7 | 74755334 | |||||||
| chr7:74755807 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2854+270G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74755807 | |||||||
| chr7:74755841 | C | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2854+304C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74755841 | |||||||
| chr7:74756100 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2854+563G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756100 | |||||||
| chr7:74756368 | C | T | 1 | a0001c0001t0002g0152 | 1 | NA19002.hp2 | intron_variant | MODIFIER | c.2855-452C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756368 | |||||||
| chr7:74756463 | A | G | 148 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(145): Show |
148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
intron_variant | MODIFIER | c.2855-357A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756463 | |||||||
| chr7:74756534 | C | T | 1 | a0001c0002t0001g0174 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2855-286C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756534 | |||||||
| chr7:74756544 | A | T | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2855-276A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756544 | |||||||
| chr7:74756778 | A | T | 3 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0005g0118 |
3 | NA18973.hp2 NA20752.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.2855-42A>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 31/34 | chr7 | 74756778 | |||||||
| chr7:74756913 | A | AC | 148 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(145): Show |
148 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(145): Show |
intron_variant | MODIFIER | c.2896+52_2896+53ins others(1): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74756913 | |||||||
| chr7:74756936 | T | C | 142 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(139): Show |
142 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(139): Show |
intron_variant | MODIFIER | c.2896+75T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74756936 | |||||||
| chr7:74757244 | C | G | 140 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(137): Show |
140 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.2896+383C>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757244 | |||||||
| chr7:74757327 | C | T | 56 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(53): Show |
56 | HG00140.hp1 HG00639.hp2 HG00673.hp2 others(53): Show |
intron_variant | MODIFIER | c.2896+466C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757327 | |||||||
| chr7:74757475 | C | T | 1 | a0001c0001t0001g0087 | 1 | NA20805.hp2 | intron_variant | MODIFIER | c.2897-484C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757475 | |||||||
| chr7:74757742 | C | T | 145 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
145 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(142): Show |
intron_variant | MODIFIER | c.2897-217C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 32/34 | chr7 | 74757742 | |||||||
| chr7:74758009 | G | A | 2 | a0001c0001t0002g0034 a0001c0001t0002g0035 |
2 | HG02155.hp2 NA18964.hp1 |
intron_variant | MODIFIER | c.2938+9G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758009 | |||||||
| chr7:74758039 | C | T | 1 | a0001c0001t0001g0070 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2938+39C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758039 | |||||||
| chr7:74758043 | TTTC | T | 126 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(123): Show |
126 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(123): Show |
intron_variant | MODIFIER | c.2938+55_2938+57del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr7 | 74758043 | ||||||
| chr7:74758055 | CTTT | C | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2938+67_2938+69del others(3): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr7 | 74758055 | ||||||
| chr7:74758113 | C | T | 1 | a0001c0001t0001g0021 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2938+113C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758113 | |||||||
| chr7:74758167 | T | A | 81 | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 others(78): Show |
81 | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(78): Show |
intron_variant | MODIFIER | c.2938+167T>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758167 | |||||||
| chr7:74758336 | T | C | 1 | a0001c0001t0001g0007 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.2938+336T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758336 | |||||||
| chr7:74758359 | A | G | 1 | a0001c0001t0002g0151 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.2938+359A>G | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758359 | |||||||
| chr7:74758489 | C | T | 6 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(3): Show |
6 | HG01074.hp2 HG02622.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.2939-291C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 33/34 | chr7 | 74758489 | |||||||
| chr7:74758890 | T | C | 4 | a0001c0001t0001g0021 a0001c0001t0001g0064 a0001c0002t0001g0108 others(1): Show |
4 | HG00099.hp2 HG03130.hp1 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.*17+35T>C | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74758890 | |||||||
| chr7:74758960 | G | A | 11 | a0001c0002t0001g0001 a0001c0002t0001g0098 a0001c0002t0001g0099 others(8): Show |
11 | HG01109.hp2 HG01515.hp2 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.*17+105G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74758960 | |||||||
| chr7:74759386 | G | A | 1 | a0003c0006t0001g0133 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.*18-162G>A | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74759386 | |||||||
| chr7:74759494 | C | T | 1 | a0001c0001t0002g0105 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.*18-54C>T | GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 34/34 | chr7 | 74759494 |