Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 84163 |
| ensemblid | ENSG00000196275.16 |
| hgncid | 30775 |
| symbol | GTF2IRD2 |
| name | GTF2I repeat domain containing 2 |
| refseq_nuc | NM_173537.5 |
| refseq_prot | NP_775808.4 |
| ensembl_nuc | ENST00000451013.7 |
| ensembl_prot | ENSP00000406723.3 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 74796151 |
| end | 74851605 |
| strand | - |
| ver | v1.2 |
| region | chr7:74796151-74851605 |
| region5000 | chr7:74791151-74856605 |
| regionname0 | GTF2IRD2_chr7_74796151_74851605 |
| regionname5000 | GTF2IRD2_chr7_74791151_74856605 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 949 | 2 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | MAQVA others(944): Show |
chr7 | 74791151 | 74856605 |
| a0002 | 0/0 | 949 | 3 | 1 | 0 | 0 | 0 | 2 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | MAQVA others(944): Show |
chr7 | 74791151 | 74856605 |
| a0003 | 0/0 | 949 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | MAQVA others(944): Show |
chr7 | 74791151 | 74856605 |
| a0004 | 0/0 | 949 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | MAQVA others(944): Show |
chr7 | 74791151 | 74856605 |
| a0005 | 0/1 | 949 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | MAQVA others(944): Show |
chr7 | 74791151 | 74856605 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 1/0 | 2847 | 2 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ATGGC others(2842): Show |
chr7 | 74791151 | 74856605 | ||
| a0002c0001 | 0/0 | 2847 | 3 | 1 | 0 | 0 | 0 | 2 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ATGGC others(2842): Show |
chr7 | 74791151 | 74856605 | ||
| a0003c0005 | 0/0 | 2847 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ATGGC others(2842): Show |
chr7 | 74791151 | 74856605 | ||
| a0004c0004 | 0/0 | 2847 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ATGGC others(2842): Show |
chr7 | 74791151 | 74856605 | ||
| a0005c0003 | 0/1 | 2847 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ATGGC others(2842): Show |
chr7 | 74791151 | 74856605 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 1/0 | 3605 | 2 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ACACG others(3600): Show |
chr7 | 74791151 | 74856605 |
| a0002c0001t0001 | 0/0 | 3605 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ACACG others(3600): Show |
chr7 | 74791151 | 74856605 |
| a0002c0001t0002 | 0/0 | 3605 | 2 | 1 | 0 | 0 | 0 | 1 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ACACG others(3600): Show |
chr7 | 74791151 | 74856605 |
| a0003c0005t0003 | 0/0 | 3605 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ACACG others(3600): Show |
chr7 | 74791151 | 74856605 |
| a0004c0004t0001 | 0/0 | 3605 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ACACG others(3600): Show |
chr7 | 74791151 | 74856605 |
| a0005c0003t0001 | 0/1 | 3605 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | ACACG others(3600): Show |
chr7 | 74791151 | 74856605 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| a0001c0002t0001g0007 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| a0002c0001t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| a0002c0001t0002g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| a0002c0001t0002g0003 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| a0003c0005t0003g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| a0004c0004t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| a0005c0003t0001g0005 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG01109 | hp1 | a0003 | c0005 | t0003 | g0001 | AMR | PUR | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| HG01109 | hp2 | a0004 | c0004 | t0001 | g0006 | AMR | PUR | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| HG02965 | hp1 | a0001 | c0002 | t0001 | g0004 | AFR | ESN | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| HG02965 | hp2 | a0002 | c0001 | t0002 | g0003 | AFR | ESN | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| HG03654 | hp1 | a0002 | c0001 | t0001 | g0008 | SAS | PJL | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| HG03654 | hp2 | a0002 | c0001 | t0002 | g0002 | SAS | PJL | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| homoSapiens | chm13v2 | a0005 | c0003 | t0001 | g0005 | REF | REF | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0007 | REF | REF | GTF2IRD2_chr7_74791151_74856605 | GTF2IRD2 | chr7 | 74791151 | 74856605 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74797697 | G | C | 2 | a0002 a0003 |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
missense_variant | MODERATE | c.1815C>G | p.Asn605Lys | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 16/16 | 2059/3605 | 1815/2850 | 605/949 | chr7 | 74797697 | |||
| chr7:74797972 | T | G | 1 | a0003 | 1 | HG01109.hp1 | missense_variant | MODERATE | c.1540A>C | p.Asn514His | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 16/16 | 1784/3605 | 1540/2850 | 514/949 | chr7 | 74797972 | |||
| chr7:74798013 | G | A | 2 | a0002 a0003 |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
missense_variant | MODERATE | c.1499C>T | p.Ser500Leu | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 16/16 | 1743/3605 | 1499/2850 | 500/949 | chr7 | 74798013 | |||
| chr7:74822675 | G | A | 2 | a0003 a0004 |
2 | HG01109.hp1 HG01109.hp2 |
missense_variant | MODERATE | c.491C>T | p.Thr164Ile | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 5/16 | 735/3605 | 491/2850 | 164/949 | chr7 | 74822675 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74797709 | T | C | 2 | a0002c0001 a0003c0005 |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
synonymous_variant | LOW | c.1803A>G | p.Lys601Lys | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 16/16 | 2047/3605 | 1803/2850 | 601/949 | chr7 | 74797709 | |||
| chr7:74798012 | T | C | 2 | a0002c0001 a0003c0005 |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
synonymous_variant | LOW | c.1500A>G | p.Ser500Ser | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 16/16 | 1744/3605 | 1500/2850 | 500/949 | chr7 | 74798012 | |||
| chr7:74824988 | T | C | 1 | a0002c0001 | 3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
synonymous_variant | LOW | c.303A>G | p.Ser101Ser | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/16 | 547/3605 | 303/2850 | 101/949 | chr7 | 74824988 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74796184 | T | C | 1 | a0003c0005t0003 | 1 | HG01109.hp1 | 3_prime_UTR_variant | MODIFIER | c.*478A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 16/16 | 478 | chr7 | 74796184 | ||||||
| chr7:74851453 | A | G | 2 | a0002c0001t0002 a0003c0005t0003 |
3 | HG01109.hp1 HG02965.hp2 HG03654.hp2 |
5_prime_UTR_variant | MODIFIER | c.-92T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/16 | 15075 | chr7 | 74851453 | ||||||
| chr7:74851505 | A | G | 2 | a0002c0001t0002 a0003c0005t0003 |
3 | HG01109.hp1 HG02965.hp2 HG03654.hp2 |
5_prime_UTR_variant | MODIFIER | c.-144T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/16 | 15127 | chr7 | 74851505 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr7:74798786 | A | G | 4 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 others(1): Show |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.1247-521T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 15/15 | chr7 | 74798786 | |||||||
| chr7:74799305 | G | A | 1 | a0003c0005t0003g0001 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1247-1040C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 15/15 | chr7 | 74799305 | |||||||
| chr7:74799921 | C | CAA | 4 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 others(1): Show |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.1247-1658_1247-165 others(6): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 15/15 | chr7 | 74799921 | |||||||
| chr7:74800374 | G | A | 1 | a0003c0005t0003g0001 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1246+1611C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 15/15 | chr7 | 74800374 | |||||||
| chr7:74801185 | A | G | 4 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 others(1): Show |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.1246+800T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 15/15 | chr7 | 74801185 | |||||||
| chr7:74802053 | A | G | 1 | a0001c0002t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1218-40T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 14/15 | chr7 | 74802053 | |||||||
| chr7:74802202 | G | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.1218-189C>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 14/15 | chr7 | 74802202 | |||||||
| chr7:74802217 | C | T | 4 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 others(1): Show |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.1218-204G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 14/15 | chr7 | 74802217 | |||||||
| chr7:74803284 | C | T | 1 | a0004c0004t0001g0006 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1217+14G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 14/15 | chr7 | 74803284 | |||||||
| chr7:74803874 | T | A | 4 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 others(1): Show |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.1034-393A>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 13/15 | chr7 | 74803874 | |||||||
| chr7:74805229 | T | C | 4 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 others(1): Show |
4 | HG01109.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.950-369A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 12/15 | chr7 | 74805229 | |||||||
| chr7:74805699 | C | CTGCACCC others(185): Show |
1 | a0003c0005t0003g0001 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.950-1031_950-840du others(193): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 12/15 | chr7 | 74805699 | |||||||
| chr7:74806349 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.949+585T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 12/15 | chr7 | 74806349 | |||||||
| chr7:74806410 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.949+524G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 12/15 | chr7 | 74806410 | |||||||
| chr7:74806557 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.949+377C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 12/15 | chr7 | 74806557 | |||||||
| chr7:74807483 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.872-472C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 11/15 | chr7 | 74807483 | |||||||
| chr7:74807881 | C | G | 1 | a0002c0001t0002g0002 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.872-870G>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 11/15 | chr7 | 74807881 | |||||||
| chr7:74808180 | T | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.871+928A>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 11/15 | chr7 | 74808180 | |||||||
| chr7:74808701 | T | C | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.871+407A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 11/15 | chr7 | 74808701 | |||||||
| chr7:74808864 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.871+244T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 11/15 | chr7 | 74808864 | |||||||
| chr7:74809596 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.806-423G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 10/15 | chr7 | 74809596 | |||||||
| chr7:74809641 | C | CA | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.806-469dupT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 10/15 | chr7 | 74809641 | |||||||
| chr7:74809781 | T | TTTA | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.806-611_806-609dup others(3): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 10/15 | chr7 | 74809781 | |||||||
| chr7:74809880 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.806-707C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 10/15 | chr7 | 74809880 | |||||||
| chr7:74810599 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.805+297T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 10/15 | chr7 | 74810599 | |||||||
| chr7:74810807 | GA | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.805+88delT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 10/15 | chr7 | 74810807 | |||||||
| chr7:74811044 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.749-92T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74811044 | |||||||
| chr7:74811101 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.749-149C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74811101 | |||||||
| chr7:74811535 | T | C | 2 | a0003c0005t0003g0001 a0004c0004t0001g0006 |
2 | HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.749-583A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74811535 | |||||||
| chr7:74811576 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.749-624G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74811576 | |||||||
| chr7:74811855 | A | AT | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.748+883dupA | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74811855 | |||||||
| chr7:74812278 | G | C | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.748+461C>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74812278 | |||||||
| chr7:74812391 | C | CA | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.748+347dupT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74812391 | |||||||
| chr7:74812560 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.748+179C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74812560 | |||||||
| chr7:74812627 | A | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.748+112T>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 9/15 | chr7 | 74812627 | |||||||
| chr7:74813118 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-302G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813118 | |||||||
| chr7:74813141 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-325C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813141 | |||||||
| chr7:74813359 | T | C | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-543A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813359 | |||||||
| chr7:74813399 | G | A | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-583C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813399 | |||||||
| chr7:74813400 | A | AGAAG | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-585_671-584ins others(4): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813400 | |||||||
| chr7:74813478 | G | C | 2 | a0003c0005t0003g0001 a0004c0004t0001g0006 |
2 | HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.671-662C>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813478 | |||||||
| chr7:74813626 | G | C | 2 | a0003c0005t0003g0001 a0004c0004t0001g0006 |
2 | HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.671-810C>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813626 | |||||||
| chr7:74813939 | T | C | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-1123A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74813939 | |||||||
| chr7:74814846 | C | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-2030G>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74814846 | |||||||
| chr7:74815276 | A | C | 2 | a0002c0001t0002g0002 a0002c0001t0002g0003 |
2 | HG02965.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.671-2460T>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74815276 | |||||||
| chr7:74815366 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-2550C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74815366 | |||||||
| chr7:74815375 | CG | C | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-2560delC | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74815375 | |||||||
| chr7:74815457 | GA | G | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-2642delT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74815457 | |||||||
| chr7:74815517 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-2701C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74815517 | |||||||
| chr7:74815797 | GGAAAGAA others(1): Show |
G | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.671-2989_671-2982d others(10): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74815797 | |||||||
| chr7:74815853 | AGAAAG | A | 2 | a0003c0005t0003g0001 a0004c0004t0001g0006 |
2 | HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.671-3042_671-3038d others(7): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74815853 | |||||||
| chr7:74816108 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.671-3292T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74816108 | |||||||
| chr7:74816276 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.670+3278T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74816276 | |||||||
| chr7:74816826 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.670+2728T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74816826 | |||||||
| chr7:74817088 | C | CTG | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.670+2465_670+2466i others(4): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74817088 | |||||||
| chr7:74817656 | TC | T | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.670+1897delG | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74817656 | |||||||
| chr7:74818002 | C | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.670+1552G>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74818002 | |||||||
| chr7:74818460 | T | C | 1 | a0002c0001t0002g0003 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.670+1094A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74818460 | |||||||
| chr7:74818677 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.670+877T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 8/15 | chr7 | 74818677 | |||||||
| chr7:74820429 | C | T | 1 | a0002c0001t0002g0003 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.572-406G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74820429 | |||||||
| chr7:74820592 | G | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.572-569C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74820592 | |||||||
| chr7:74821163 | G | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.572-1140C>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74821163 | |||||||
| chr7:74821855 | AT | A | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.571+571delA | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74821855 | |||||||
| chr7:74821919 | TA | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.571+507delT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74821919 | |||||||
| chr7:74821987 | A | G | 1 | a0001c0002t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.571+440T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74821987 | |||||||
| chr7:74822012 | A | G | 1 | a0001c0002t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.571+415T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74822012 | |||||||
| chr7:74822168 | A | T | 1 | a0001c0002t0001g0004 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.571+259T>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74822168 | |||||||
| chr7:74822189 | C | G | 4 | a0001c0002t0001g0004 a0002c0001t0001g0008 a0002c0001t0002g0002 others(1): Show |
4 | HG02965.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+238G>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74822189 | |||||||
| chr7:74822195 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.571+232G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74822195 | |||||||
| chr7:74822222 | C | T | 4 | a0001c0002t0001g0004 a0002c0001t0001g0008 a0002c0001t0002g0002 others(1): Show |
4 | HG02965.hp1 HG02965.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.571+205G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 6/15 | chr7 | 74822222 | |||||||
| chr7:74823084 | T | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.359-277A>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/15 | chr7 | 74823084 | |||||||
| chr7:74823981 | A | G | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.358+952T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/15 | chr7 | 74823981 | |||||||
| chr7:74824026 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.358+907G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/15 | chr7 | 74824026 | |||||||
| chr7:74824027 | A | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.358+906T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/15 | chr7 | 74824027 | |||||||
| chr7:74824469 | GA | G | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.358+463delT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/15 | chr7 | 74824469 | |||||||
| chr7:74824760 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.358+173G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/15 | chr7 | 74824760 | |||||||
| chr7:74824806 | C | T | 3 | a0002c0001t0001g0008 a0002c0001t0002g0002 a0002c0001t0002g0003 |
3 | HG02965.hp2 HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.358+127G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 4/15 | chr7 | 74824806 | |||||||
| chr7:74825988 | A | AG | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-937dupC | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74825988 | |||||||
| chr7:74826031 | T | C | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-979A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74826031 | |||||||
| chr7:74826077 | A | AC | 2 | a0003c0005t0003g0001 a0004c0004t0001g0006 |
2 | HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.239-1026dupG | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74826077 | |||||||
| chr7:74826320 | C | T | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-1268G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74826320 | |||||||
| chr7:74826699 | CT | C | 3 | a0002c0001t0001g0008 a0003c0005t0003g0001 a0004c0004t0001g0006 |
3 | HG01109.hp1 HG01109.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.239-1648delA | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74826699 | |||||||
| chr7:74827527 | T | TG | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-2476dupC | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74827527 | |||||||
| chr7:74827817 | C | CT | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-2766dupA | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74827817 | |||||||
| chr7:74827889 | G | T | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-2837C>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74827889 | |||||||
| chr7:74827907 | A | ACCTCCTG others(581): Show |
2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-2856_239-2855i others(590): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74827907 | |||||||
| chr7:74828883 | T | C | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.239-3831A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74828883 | |||||||
| chr7:74829464 | C | T | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.238+3341G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74829464 | |||||||
| chr7:74829891 | A | AAAACAAA others(5): Show |
2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.238+2913_238+2914i others(14): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74829891 | |||||||
| chr7:74830671 | G | A | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.238+2134C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74830671 | |||||||
| chr7:74831504 | T | TAC | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.238+1299_238+1300d others(4): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74831504 | |||||||
| chr7:74831504 | TAC | T | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.238+1299_238+1300d others(4): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74831504 | |||||||
| chr7:74831612 | G | A | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.238+1193C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 3/15 | chr7 | 74831612 | |||||||
| chr7:74833221 | T | TTGTGTGT others(1): Show |
2 | a0003c0005t0003g0001 a0004c0004t0001g0006 |
2 | HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.100-286_100-279dup others(8): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 2/15 | chr7 | 74833221 | |||||||
| chr7:74833221 | TTGTGTGT others(1): Show |
T | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.100-286_100-279del others(8): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 2/15 | chr7 | 74833221 | |||||||
| chr7:74837852 | G | A | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.-5-1469C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74837852 | |||||||
| chr7:74838029 | T | C | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.-5-1646A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74838029 | |||||||
| chr7:74838088 | A | G | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-5-1705T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74838088 | |||||||
| chr7:74839304 | T | C | 2 | a0003c0005t0003g0001 a0004c0004t0001g0006 |
2 | HG01109.hp1 HG01109.hp2 |
intron_variant | MODIFIER | c.-5-2921A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74839304 | |||||||
| chr7:74839442 | A | G | 4 | a0001c0002t0001g0004 a0002c0001t0002g0003 a0003c0005t0003g0001 others(1): Show |
4 | HG01109.hp1 HG01109.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-3059T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74839442 | |||||||
| chr7:74839775 | A | G | 4 | a0001c0002t0001g0004 a0002c0001t0002g0003 a0003c0005t0003g0001 others(1): Show |
4 | HG01109.hp1 HG01109.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-5-3392T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74839775 | |||||||
| chr7:74841530 | T | C | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-5-5147A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74841530 | |||||||
| chr7:74841608 | A | G | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-5-5225T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74841608 | |||||||
| chr7:74841760 | A | G | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-5-5377T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74841760 | |||||||
| chr7:74844360 | T | A | 2 | a0002c0001t0001g0008 a0002c0001t0002g0002 |
2 | HG03654.hp1 HG03654.hp2 |
intron_variant | MODIFIER | c.-6+7007A>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74844360 | |||||||
| chr7:74844360 | T | TTTTA | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+7003_-6+7006dup others(4): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74844360 | |||||||
| chr7:74846976 | C | T | 2 | a0001c0002t0001g0004 a0002c0001t0002g0003 |
2 | HG02965.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+4391G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74846976 | |||||||
| chr7:74847387 | G | T | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+3980C>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74847387 | |||||||
| chr7:74847395 | A | G | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+3972T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74847395 | |||||||
| chr7:74847423 | C | T | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+3944G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74847423 | |||||||
| chr7:74847876 | C | CA | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+3490dupT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74847876 | |||||||
| chr7:74847877 | A | C | 1 | a0002c0001t0002g0002 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-6+3490T>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74847877 | |||||||
| chr7:74848605 | G | A | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+2762C>T | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74848605 | |||||||
| chr7:74848833 | TA | T | 2 | a0002c0001t0002g0002 a0002c0001t0002g0003 |
2 | HG02965.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.-6+2533delT | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74848833 | |||||||
| chr7:74848977 | C | T | 1 | a0002c0001t0002g0002 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-6+2390G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74848977 | |||||||
| chr7:74849852 | C | T | 1 | a0002c0001t0002g0002 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-6+1515G>A | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74849852 | |||||||
| chr7:74850443 | T | C | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+924A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74850443 | |||||||
| chr7:74850507 | A | G | 3 | a0002c0001t0002g0002 a0002c0001t0002g0003 a0003c0005t0003g0001 |
3 | HG01109.hp1 HG02965.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.-6+860T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74850507 | |||||||
| chr7:74850609 | A | G | 1 | a0002c0001t0002g0002 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-6+758T>C | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74850609 | |||||||
| chr7:74851011 | CCTTATCT others(26): Show |
C | 1 | a0002c0001t0002g0002 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-6+323_-6+355delCT others(31): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74851011 | |||||||
| chr7:74851090 | T | C | 3 | a0002c0001t0002g0002 a0002c0001t0002g0003 a0003c0005t0003g0001 |
3 | HG01109.hp1 HG02965.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.-6+277A>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74851090 | |||||||
| chr7:74851135 | G | C | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+232C>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74851135 | |||||||
| chr7:74851305 | G | C | 2 | a0002c0001t0002g0003 a0003c0005t0003g0001 |
2 | HG01109.hp1 HG02965.hp2 |
intron_variant | MODIFIER | c.-6+62C>G | GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74851305 | |||||||
| chr7:74851334 | T | TGGCGGCG others(2): Show |
2 | a0002c0001t0002g0002 a0002c0001t0002g0003 |
2 | HG02965.hp2 HG03654.hp2 |
intron_variant | MODIFIER | c.-6+24_-6+32dupGACG others(5): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74851334 | |||||||
| chr7:74851349 | C | CGTCGGCG others(4): Show |
1 | a0003c0005t0003g0001 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-6+17_-6+18insCGCC others(7): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 1/15 | chr7 | 74851349 |