| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | 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 | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GTF2F2_chr13_45115510_45289893 | 45191220 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02257.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152a0001c0002t0001g0160a0001c0002t0001g0164others(1): Show | 4 | 210 | 0.0191 | 8 | c.305 others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2F2_chr13_45115510_45289893 | 45207005 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01074.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0006a0001c0001t0001g0041a0001c0001t0001g0050others(10): Show | 13 | 210 | 0.0619 | 8 | c.305 others(23): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2F2_chr13_45115510_45289893 | 45228669 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01109.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(36): Show | 39 | 210 | 0.1857 | 8 | c.386 others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2F2_chr13_45115510_45289893 | 45236490 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069 | 2 | 210 | 0.0095 | 8 | c.387 others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2F2_chr13_45115510_45289893 | 45237948 | C | CTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02698.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0099a0001c0001t0001g0100others(2): Show | 5 | 210 | 0.0238 | 8 | c.387 others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GTF2H1_chr11_18317567_18372045 | 18319255 | C | CCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 HG02258.hp2 HG02451.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0029others(13): Show | 19 | 370 | 0.0514 | 8 | c.-35 others(19): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 3311 | chr11 | TogoVar | ||||||
| GTF2H1_chr11_18317567_18372045 | 18351227 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0034others(3): Show | 6 | 370 | 0.0162 | 8 | c.105 others(25): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| GTF2H1_chr11_18317567_18372045 | 18351237 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0265a0001c0001t0001g0279others(4): Show | 8 | 370 | 0.0216 | 8 | c.105 others(25): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 9/14 | chr11 | TogoVar | ||||||
| GTF2H1_chr11_18317567_18372045 | 18351237 | A | AAAAAAAT others(1): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02965.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266a0001c0001t0001g0267a0001c0001t0001g0268others(4): Show | 7 | 370 | 0.0189 | 8 | c.105 others(25): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 9/14 | chr11 | TogoVar | ||||||
| GTF2H1_chr11_18317567_18372045 | 18367855 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01081.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0005a0001c0001t0002g0015others(13): Show | 17 | 370 | 0.0460 | 8 | c.*19 others(19): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 811 | chr11 | TogoVar | ||||||
| GTF2H2C_chr5_69555191_69600221 | 69573143 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03453.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0067a0001c0001t0073 | a0001c0001t0010g0115a0001c0001t0067g0114a0001c0001t0073g0083 | 3 | 167 | 0.0180 | 8 | c.470 others(23): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| GTF2H2C_chr5_69555191_69600221 | 69594436 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00642.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0029a0001c0001t0034others(1): Show | a0001c0001t0022g0039a0001c0001t0022g0081a0001c0001t0029g0103others(2): Show | 5 | 167 | 0.0299 | 8 | c.*22 others(19): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 17/17 | 2281 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| GTF2H2_chr5_71030347_71072676 | 71033412 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 HG03195.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0005a0001c0006t0001 | a0001c0002t0005g0064a0001c0006t0001g0028 | 2 | 79 | 0.0253 | 8 | c.*22 others(19): Show |
GTF2H2 | ENSG00000145736.15 | transcript | ENST00000274400.10 | protein_coding | 1934 | chr5 | TogoVar | ||||||
| GTF2H3_chr12_123628829_123667604 | 123632945 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01346.hp1 HG01975.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0022a0001c0002t0023others(3): Show | a0001c0002t0005g0047a0001c0002t0005g0049a0001c0002t0005g0051others(7): Show | 10 | 272 | 0.0368 | 8 | c.-91 others(17): Show |
GTF2H3 | ENSG00000111358.14 | transcript | ENST00000543341.7 | protein_coding | 883 | chr12 | TogoVar | ||||||
| GTF2H4_chr6_30903207_30919106 | 30916476 | G | GTGTGTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01255.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 16 | 411 | 0.0389 | 8 | c.*24 others(19): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 2371 | chr6 | TogoVar | ||||||
| GTF2H4_chr6_30903207_30919106 | 30916480 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03834.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0012a0001c0003t0003g0017 | 5 | 411 | 0.0122 | 8 | c.*24 others(19): Show |
GTF2H4 | ENSG00000213780.11 | transcript | ENST00000259895.9 | protein_coding | 2375 | chr6 | TogoVar | ||||||
| GTF2H5_chr6_158163350_158204344 | 158169355 | A | ATAATATG others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03540.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0099 | a0001c0001t0045g0195a0001c0001t0045g0196a0001c0001t0099g0197 | 3 | 384 | 0.0078 | 8 | c.-35 others(23): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
| GTF2H5_chr6_158163350_158204344 | 158175010 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG03225.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0014a0001c0001t0003g0297a0001c0001t0008g0099others(4): Show | 8 | 384 | 0.0208 | 8 | c.35+ others(23): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GTF2H5_chr6_158163350_158204344 | 158175044 | G | GTGTGTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01192.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0037others(6): Show | a0001c0001t0017g0015a0001c0001t0017g0296a0001c0001t0018g0015others(10): Show | 14 | 384 | 0.0365 | 8 | c.35+ others(23): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GTF2H5_chr6_158163350_158204344 | 158201365 | T | TTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00609.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0121others(26): Show | 34 | 384 | 0.0885 | 8 | c.*92 others(19): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2022 | chr6 | TogoVar | ||||||
| GTF2IRD1_chr7_74448906_74607605 | 74508690 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00673.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0160a0002c0002t0001g0005a0002c0002t0001g0013others(33): Show | 36 | 262 | 0.1374 | 8 | c.123 others(23): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD1_chr7_74448906_74607605 | 74528788 | C | CGGGTGGG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02523.hp2 NA19060.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0005a0002c0002t0001g0016a0002c0002t0001g0143others(1): Show | 4 | 262 | 0.0153 | 8 | c.109 others(25): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD1_chr7_74448906_74607605 | 74528920 | T | TGGATGGA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01891.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0192a0001c0001t0001g0195a0002c0002t0001g0005others(21): Show | 24 | 262 | 0.0916 | 8 | c.109 others(25): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD1_chr7_74448906_74607605 | 74541911 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01123.hp1 HG01169.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0070a0001c0001t0001g0077others(8): Show | 11 | 262 | 0.0420 | 8 | c.161 others(27): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD1_chr7_74448906_74607605 | 74566006 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG00735.hp2 others(24): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0012a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(12): Show | a0001c0001t0001g0219a0001c0001t0002g0075a0001c0001t0002g0082others(24): Show | 27 | 262 | 0.1031 | 8 | c.232 others(27): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD1_chr7_74448906_74607605 | 74568337 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02258.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0228a0001c0001t0002g0004a0001c0001t0003g0066others(2): Show | 5 | 262 | 0.0191 | 8 | c.232 others(27): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75099737 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0095a0001c0001t0001g0135 | 3 | 170 | 0.0177 | 8 | c.-6+ others(23): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75112085 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01975.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0041a0001c0001t0001g0047a0001c0001t0001g0048others(2): Show | 5 | 170 | 0.0294 | 8 | c.100 others(23): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75113781 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01123.hp2 HG01169.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0039a0001c0001t0004g0004a0001c0001t0005g0006others(13): Show | 16 | 170 | 0.0941 | 8 | c.238 others(25): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75119191 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00738.hp1 others(11): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0004a0001c0015t0001 | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0062others(11): Show | 14 | 170 | 0.0824 | 8 | c.239 others(25): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75130091 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00673.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0036others(40): Show | 44 | 170 | 0.2588 | 8 | c.671 others(25): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2B_chr7_75087590_75154817 | 75130106 | T | TTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0012 | a0001c0001t0006g0084a0001c0001t0012g0003 | 2 | 170 | 0.0118 | 8 | c.671 others(25): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2IRD2_chr7_74791151_74856605 | 74833221 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 |
a0003a0004 | a0003c0005a0004c0004 | a0003c0005t0003a0004c0004t0001 | a0003c0005t0003g0001a0004c0004t0001g0006 | 2 | 8 | 0.2500 | 8 | c.100 others(23): Show |
GTF2IRD2 | ENSG00000196275.16 | transcript | ENST00000451013.7 | protein_coding | 2/15 | chr7 | TogoVar | ||||||
| GTF2I_chr7_74652718_74765692 | 74689708 | C | CATTCATT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047a0001c0001t0002g0086 | 2 | 174 | 0.0115 | 8 | c.99+ others(21): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2I_chr7_74652718_74765692 | 74704268 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01070.hp1 others(40): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0030a0001c0001t0001g0052a0001c0001t0001g0054others(40): Show | 43 | 174 | 0.2471 | 8 | c.587 others(23): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 6/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2I_chr7_74652718_74765692 | 74726127 | A | ACATAAAC others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039a0001c0001t0002g0043a0001c0001t0002g0046others(1): Show | 4 | 174 | 0.0230 | 8 | c.944 others(25): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | TogoVar | ||||||
| GTF2I_chr7_74652718_74765692 | 74726834 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG02071.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0031a0001c0001t0002g0033a0001c0001t0002g0123others(10): Show | 13 | 174 | 0.0747 | 8 | c.944 others(25): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2I_chr7_74652718_74765692 | 74726899 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01258.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0075a0001c0001t0001g0119a0001c0001t0002g0032others(6): Show | 9 | 174 | 0.0517 | 8 | c.944 others(25): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTF2I_chr7_74652718_74765692 | 74761631 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01175.hp1 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0015a0001c0001t0002g0045a0001c0001t0002g0046others(11): Show | 14 | 174 | 0.0805 | 8 | c.*21 others(19): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 940 | chr7 | TogoVar | ||||||
| GTF3C2_chr2_27320854_27361764 | 27358735 | C | CACCTCTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01884.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0033a0001c0001t0001g0095others(21): Show | 27 | 286 | 0.0944 | 8 | c.-20 others(19): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 1972 | chr2 | TogoVar | ||||||
| GTF3C3_chr2_196758035_196804683 | 196781342 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01884.hp2 HG06807.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0006 | a0001c0001t0001g0016a0001c0001t0001g0124a0001c0001t0001g0166others(1): Show | 5 | 252 | 0.0198 | 8 | c.111 others(25): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | ||||||
| GTF3C5_chr9_133025997_133063503 | 133062705 | C | CACCTACC others(1): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01257.hp2 HG01258.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0038a0001c0001t0001g0039others(31): Show | 45 | 380 | 0.1184 | 8 | c.*47 others(19): Show |
GTF3C5 | ENSG00000148308.18 | transcript | ENST00000372097.10 | protein_coding | 4203 | chr9 | TogoVar | ||||||
| GTPBP10_chr7_90341716_90396453 | 90371010 | G | GATAAATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01255.hp1 others(6): Show |
a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0014a0004c0004t0006g0021a0004c0004t0006g0063others(1): Show | 9 | 390 | 0.0231 | 8 | c.465 others(25): Show |
GTPBP10 | ENSG00000105793.16 | transcript | ENST00000222511.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GTPBP1_chr22_38700944_38738587 | 38731010 | T | TTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(49): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0001c0001t0035a0001c0001t0036others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0006others(20): Show | 52 | 382 | 0.1361 | 8 | c.*33 others(17): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 12/12 | 347 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||
| GTPBP3_chr19_17332553_17347731 | 17345456 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(7): Show |
a0000a0001 | a0000c0004a0001c0001 | a0000c0004t0005a0001c0001t0002a0001c0001t0004others(1): Show | a0000c0004t0005g0026a0001c0001t0002g0002a0001c0001t0004g0008others(1): Show | 10 | 408 | 0.0245 | 8 | c.*37 others(19): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 2726 | chr19 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315553 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 155 | 0.0065 | 8 | c.488 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315687 | C | CACACGCA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0001 | a0001c0003a0001c0024 | a0001c0003t0001a0001c0024t0003 | a0001c0003t0001g0105a0001c0024t0003g0106 | 2 | 155 | 0.0129 | 8 | c.488 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315813 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 NA20805.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0057a0001c0003t0001g0005 | 3 | 155 | 0.0194 | 8 | c.488 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315874 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02970.hp1 NA18992.hp2 others(2): Show |
a0001a0002a0003 | a0001c0003a0002c0002a0002c0034others(1): Show | a0001c0003t0003a0002c0002t0001a0002c0034t0003others(1): Show | a0001c0003t0003g0112a0002c0002t0001g0135a0002c0034t0003g0073others(2): Show | 5 | 155 | 0.0323 | 8 | c.488 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 315886 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0024 | a0024c0032 | a0024c0032t0001 | a0024c0032t0001g0108 | 1 | 155 | 0.0065 | 8 | c.488 others(23): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar |