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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSG1L_chr16_27782528_28068714 | 27946575 | AAGAAAGA others(9): Show |
A | intron_variant | MODIFIER | HG02258.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0103a0001c0001t0009g0234 | 2 | 240 | 0.0083 | -16 | c.397 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27947540 | GGAAAGAA others(9): Show |
G | intron_variant | MODIFIER | HG03139.hp2 HG03540.hp2 NA18995.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0009a0001c0002t0032 | a0001c0001t0002g0057a0001c0001t0002g0195a0001c0002t0009g0012others(1): Show | 4 | 240 | 0.0167 | -16 | c.397 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27947585 | GAAAGAAA others(9): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 240 | 0.0042 | -16 | c.397 others(35): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27955912 | GGAAGGAA others(9): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0002g0047a0001c0001t0002g0159a0001c0001t0004g0067others(4): Show | 7 | 240 | 0.0292 | -16 | c.397 others(33): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
GSG1_chr12_13078532_13108667 | 13081949 | CTTTTTTT others(9): Show |
C | downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 448 | 0.0022 | -16 | c.*29 others(27): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 1582 | chr12 | TogoVar | ||||||
GSG1_chr12_13078532_13108667 | 13098456 | ATTTTTTT others(9): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 448 | 0.0022 | -16 | c.48+ others(31): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119865458 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0037 | a0001c0001t0014g0027a0001c0001t0037g0026 | 2 | 300 | 0.0067 | -16 | c.910 others(33): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119875498 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0076 | 1 | 300 | 0.0033 | -16 | c.909 others(31): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 8/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119922212 | AGGAAGGA others(9): Show |
A | intron_variant | MODIFIER | NA19068.hp1 NA19070.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0163a0001c0001t0001g0164 | 3 | 300 | 0.0100 | -16 | c.477 others(33): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 4/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119967828 | TTCTCTTT others(9): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01192.hp1 HG01243.hp2 others(37): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0008 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(10): Show | a0001c0001t0003g0030a0001c0001t0003g0031a0001c0001t0003g0034others(37): Show | 40 | 300 | 0.1333 | -16 | c.283 others(35): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 2/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120026512 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01346.hp2 NA18963.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247a0001c0001t0002g0248a0001c0001t0002g0280others(2): Show | 5 | 300 | 0.0167 | -16 | c.89- others(33): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120079305 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0059a0001c0001t0067 | a0001c0001t0059g0295a0001c0001t0067g0300 | 2 | 300 | 0.0067 | -16 | c.88+ others(33): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
GSN_chr9_121263162_121337842 | 121283671 | GTTCATTC others(9): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(95): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(78): Show | 98 | 322 | 0.3044 | -16 | c.-10 others(33): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GSN_chr9_121263162_121337842 | 121334772 | TTGTGTGT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(153): Show |
a0001a0002a0007others(5): Show | a0001c0001a0002c0007a0007c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(126): Show | 156 | 322 | 0.4845 | -16 | c.*21 others(27): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 1931 | chr9 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11874454 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0140 | 1 | 372 | 0.0027 | -16 | c.186 others(35): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 14/14 | chr16 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30684928 | CATTTATT others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(72): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(71): Show | 75 | 348 | 0.2155 | -16 | c.104 others(33): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 9/12 | chr8 | TogoVar | ||||||
GSTA1_chr6_52786371_52808816 | 52796455 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00733.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020a0001c0002t0002g0028a0001c0002t0002g0029others(10): Show | 25 | 436 | 0.0573 | -16 | c.140 others(31): Show |
GSTA1 | ENSG00000243955.6 | transcript | ENST00000334575.6 | protein_coding | 3/6 | chr6 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105705513 | GCCAAAAA others(9): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0015 | a0001c0001t0005g0180a0001c0001t0005g0181a0001c0001t0005g0182others(2): Show | 5 | 186 | 0.0269 | -16 | c.-35 others(27): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 3270 | chr4 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105755056 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0039a0001c0001t0005g0174a0001c0001t0005g0175 | 3 | 186 | 0.0161 | -16 | c.124 others(37): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTCD_chr4_105703784_105852725 | 105755241 | CAAGGTAG others(9): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0078 | 1 | 186 | 0.0054 | -16 | c.124 others(37): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTCD_chr4_105703784_105852725 | 105794821 | TTTTATCT others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp1 HG01891.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0002t0002others(2): Show | a0001c0001t0003g0121a0001c0001t0003g0124a0001c0001t0003g0128others(10): Show | 13 | 186 | 0.0699 | -16 | c.124 others(37): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTCD_chr4_105703784_105852725 | 105794839 | TTATCTAT others(9): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0068 | 1 | 186 | 0.0054 | -16 | c.124 others(37): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTM2_chr1_109663057_109680286 | 109664341 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 356 | 0.0028 | -16 | c.-37 others(27): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 3715 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654081 | AAAGAAAG others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp2 HG02647.hp1 NA18991.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0004 | a0001c0001t0002g0003a0001c0001t0002g0021a0002c0003t0004g0001 | 3 | 364 | 0.0082 | -16 | c.-23 others(27): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2017 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654093 | AAAAGAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0058 | 1 | 364 | 0.0028 | -16 | c.-22 others(27): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2005 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654126 | AAAGAAAG others(9): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0035 | 2 | 364 | 0.0055 | -16 | c.-22 others(27): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1972 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654130 | AAAGAAAG others(9): Show |
A | upstream_gene_variant | MODIFIER | NA18966.hp2 NA19087.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 2 | 364 | 0.0055 | -16 | c.-22 others(27): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1968 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109654134 | AAAGAAAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0012 | 1 | 364 | 0.0028 | -16 | c.-22 others(27): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1964 | chr1 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104272587 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02258.hp2 others(4): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0007a0001c0004t0050a0001c0004t0051others(1): Show | a0001c0004t0007g0002a0001c0004t0007g0054a0001c0004t0007g0055others(3): Show | 7 | 300 | 0.0233 | -16 | c.-23 others(35): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GSTO2_chr10_104264184_104309950 | 104306054 | TGCGCGCG others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02622.hp1 HG02922.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0036a0001c0002t0041a0001c0003t0003others(3): Show | a0001c0002t0036g0037a0001c0002t0041g0014a0001c0003t0003g0004others(11): Show | 15 | 300 | 0.0500 | -16 | c.*67 others(27): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1105 | chr10 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54107416 | CAAGAGAG others(9): Show |
C | downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 372 | 0.0027 | -16 | c.*54 others(27): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 4919 | chr4 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144019435 | GGTGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0106 | 1 | 124 | 0.0081 | -16 | c.522 others(35): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144145983 | TAAAAAAA others(9): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp2 HG02922.hp1 |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0001c0001t0003a0005c0012t0003 | a0001c0001t0001g0008a0001c0001t0003g0003a0005c0012t0003g0120 | 3 | 124 | 0.0242 | -16 | c.180 others(31): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144317384 | TGGAAGGA others(9): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 124 | 0.0081 | -16 | c.-15 others(37): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
GTF2A1L_chr2_48612856_48684604 | 48682346 | GTTTCTCC others(9): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0061 | 1 | 344 | 0.0029 | -16 | c.*29 others(27): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 2743 | chr2 | TogoVar | ||||||
GTF2A1_chr14_81170452_81225959 | 81207139 | GTACCTAC others(9): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019a0001c0001t0006g0060 | 3 | 350 | 0.0086 | -16 | c.133 others(33): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30659582 | GTATATAG others(9): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0125 | 1 | 378 | 0.0027 | -16 | c.-16 others(27): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 1347 | chr8 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30659585 | TATAGATA others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02280.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0104a0001c0001t0001g0164others(6): Show | 9 | 378 | 0.0238 | -16 | c.-16 others(27): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 1350 | chr8 | TogoVar | ||||||
GTF2F1_chr19_6374572_6398164 | 6385294 | CTGAGGCA others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG02148.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0166a0001c0001t0007g0167a0001c0001t0007g0168others(2): Show | 5 | 378 | 0.0132 | -16 | c.498 others(33): Show |
GTF2F1 | ENSG00000125651.14 | transcript | ENST00000394456.10 | protein_coding | 5/12 | chr19 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45127938 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG03704.hp1 NA18954.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0017others(1): Show | 4 | 210 | 0.0191 | -16 | c.66+ others(31): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2F2_chr13_45115510_45289893 | 45245666 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0210 | 1 | 210 | 0.0048 | -16 | c.387 others(33): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
GTF2H2C_chr5_69555191_69600221 | 69597401 | ATTTTTTT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01928.hp1 HG02132.hp2 HG03225.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0045a0001c0001t0046a0002c0003t0006others(2): Show | a0001c0001t0045g0036a0001c0001t0046g0107a0002c0003t0006g0010others(3): Show | 6 | 167 | 0.0359 | -16 | c.*52 others(27): Show |
GTF2H2C | ENSG00000183474.16 | transcript | ENST00000380729.8 | protein_coding | 2181 | chr5 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158201363 | TTTTGTGT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0099 | a0001c0001t0099g0197 | 1 | 384 | 0.0026 | -16 | c.*92 others(27): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2020 | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158201365 | TTGTGTGT others(9): Show |
T | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0036 | a0001c0001t0018g0015a0001c0001t0036g0285 | 2 | 384 | 0.0052 | -16 | c.*92 others(27): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2022 | chr6 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74448986 | CCCCTCCC others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(26): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0035a0001c0001t0001g0047a0001c0001t0001g0048others(26): Show | 29 | 262 | 0.1107 | -16 | c.-51 others(27): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 4919 | chr7 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74468676 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0012a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(11): Show | a0001c0001t0001g0025a0001c0001t0001g0183a0001c0001t0001g0227others(34): Show | 37 | 262 | 0.1412 | -16 | c.-7+ others(33): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD1_chr7_74448906_74607605 | 74528943 | GTGGATGG others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01081.hp2 others(5): Show |
a0001a0002 | a0001c0017a0001c0020a0002c0007 | a0001c0017t0001a0001c0020t0004a0002c0007t0001 | a0001c0017t0001g0051a0001c0020t0004g0208a0002c0007t0001g0037others(5): Show | 8 | 262 | 0.0305 | -16 | c.109 others(33): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2IRD2B_chr7_75087590_75154817 | 75119937 | GCTAACGT others(9): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(48): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0039a0001c0001t0001g0150a0001c0001t0002g0164others(48): Show | 51 | 170 | 0.3000 | -16 | c.239 others(31): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GTF2I_chr7_74652718_74765692 | 74653927 | TAGCTTGG others(9): Show |
T | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 174 | 0.0058 | -16 | c.-41 others(27): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3790 | chr7 | TogoVar | ||||||
GTF2I_chr7_74652718_74765692 | 74691188 | TTTTCTTT others(9): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006 | 2 | 174 | 0.0115 | -16 | c.238 others(30): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |