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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSK3B_chr3_119816321_120099447 | 119922228 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(79): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0088others(79): Show | 82 | 300 | 0.2733 | 8 | c.477 others(25): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 4/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119926328 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0018a0001c0001t0010g0019a0001c0001t0010g0020others(1): Show | 4 | 300 | 0.0133 | 8 | c.367 others(25): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 119930080 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01433.hp1 HG02015.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0097a0001c0001t0003g0036a0001c0001t0003g0041others(17): Show | 20 | 300 | 0.0667 | 8 | c.367 others(25): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120026512 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01516.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0233a0001c0001t0002g0251a0001c0001t0002g0296others(10): Show | 13 | 300 | 0.0433 | 8 | c.89- others(25): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
GSK3B_chr3_119816321_120099447 | 120078914 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01261.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0003a0001c0001t0009a0001c0001t0018others(4): Show | a0001c0001t0003g0031a0001c0001t0003g0034a0001c0001t0003g0044others(10): Show | 13 | 300 | 0.0433 | 8 | c.88+ others(25): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 1/10 | chr3 | TogoVar | ||||||
GSN_chr9_121263162_121337842 | 121283671 | G | GTTCATTC others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01168.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0007t0001others(1): Show | a0001c0001t0001g0184a0001c0001t0001g0259a0002c0002t0002g0011others(11): Show | 15 | 322 | 0.0466 | 8 | c.-10 others(25): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GSN_chr9_121263162_121337842 | 121324751 | G | GTCCATCC others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 NA18522.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0008 | a0001c0001t0001a0001c0010t0001a0005c0008t0001 | a0001c0001t0001g0042a0001c0001t0001g0153a0001c0001t0001g0176others(3): Show | 6 | 322 | 0.0186 | 8 | c.141 others(25): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GSPT1_chr16_11863128_11920956 | 11881655 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp1 HG01192.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017a0001c0001t0031 | a0001c0001t0004g0001a0001c0001t0004g0003a0001c0001t0004g0015others(35): Show | 41 | 372 | 0.1102 | 8 | c.142 others(27): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 11/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11892829 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01123.hp2 HG02055.hp2 others(8): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0017 | a0001c0001t0006a0001c0001t0024a0002c0002t0002others(1): Show | a0001c0001t0006g0141a0001c0001t0006g0142a0001c0001t0024g0153others(8): Show | 11 | 372 | 0.0296 | 8 | c.699 others(25): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01070.hp1 others(8): Show |
a0003a0005a0010 | a0003c0003a0005c0012a0010c0011 | a0003c0003t0003a0003c0003t0040a0005c0012t0003others(1): Show | a0003c0003t0003g0103a0003c0003t0003g0104a0003c0003t0003g0106others(8): Show | 11 | 372 | 0.0296 | 8 | c.352 others(25): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
GSPT2_chrX_51738442_51751232 | 51749114 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 312 | 0.0032 | 8 | c.*36 others(19): Show |
GSPT2 | ENSG00000189369.9 | transcript | ENST00000340438.6 | protein_coding | 2883 | chrX | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30697567 | G | GCAGTGAG others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0022a0001c0003t0012 | a0001c0001t0022g0205a0001c0001t0022g0211a0001c0003t0012g0012 | 3 | 348 | 0.0086 | 8 | c.696 others(25): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 6/12 | chr8 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30700723 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01934.hp2 HG02300.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0098a0001c0001t0001g0175others(12): Show | 15 | 348 | 0.0431 | 8 | c.641 others(23): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 5/12 | chr8 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30717249 | G | GAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(71): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(339): Show | 344 | 348 | 0.9885 | 8 | c.307 others(25): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
GSR_chr8_30673066_30732846 | 30718111 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01109.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0050a0001c0001t0002g0051a0001c0001t0002g0224others(21): Show | 25 | 348 | 0.0718 | 8 | c.307 others(25): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
GSTA4_chr6_52972953_53000284 | 52997120 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01175.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0049others(2): Show | 8 | 324 | 0.0247 | 8 | c.-18 others(19): Show |
GSTA4 | ENSG00000170899.11 | transcript | ENST00000370963.9 | protein_coding | 1837 | chr6 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105756495 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0074a0001c0001t0004g0131a0001c0001t0004g0132 | 3 | 186 | 0.0161 | 8 | c.124 others(29): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTCD_chr4_105703784_105852725 | 105794889 | A | ATCTATCT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02630.hp2 HG03834.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0040others(1): Show | 4 | 186 | 0.0215 | 8 | c.124 others(29): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTCD_chr4_105703784_105852725 | 105797045 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03139.hp2 HG03453.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0002t0002a0003c0004t0002 | a0001c0001t0003g0118a0001c0001t0003g0120a0001c0001t0003g0127others(2): Show | 5 | 186 | 0.0269 | 8 | c.124 others(29): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
GSTCD_chr4_105703784_105852725 | 105825131 | G | GGTTGGTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02145.hp1 HG02145.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0014a0001c0002t0011 | a0001c0001t0003g0116a0001c0001t0003g0117a0001c0001t0003g0139others(2): Show | 5 | 186 | 0.0269 | 8 | c.140 others(25): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GSTM2_chr1_109663057_109680286 | 109664341 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(53): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(17): Show | 56 | 356 | 0.1573 | 8 | c.-37 others(19): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 3715 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109652980 | A | ATTATTTA others(1): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG02735.hp2 HG02809.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(4): Show | 12 | 364 | 0.0330 | 8 | c.-34 others(19): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 3118 | chr1 | TogoVar | ||||||
GSTM4_chr1_109651099_109666700 | 109656550 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01070.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040a0001c0001t0001g0103a0001c0001t0001g0104others(4): Show | 14 | 364 | 0.0385 | 8 | c.37- others(21): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GSTM4_chr1_109651099_109666700 | 109664341 | C | CTTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0015others(24): Show | 56 | 364 | 0.1539 | 8 | c.*30 others(19): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2642 | chr1 | TogoVar | ||||||
GSTO1_chr10_104249892_104272455 | 104250417 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01081.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0024others(5): Show | 27 | 378 | 0.0714 | 8 | c.-45 others(19): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4474 | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104306020 | G | GGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 NA18948.hp1 NA18948.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0254a0001c0002t0006g0023 | 3 | 300 | 0.0100 | 8 | c.*67 others(19): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1071 | chr10 | TogoVar | ||||||
GSTP1_chr11_67578812_67591653 | 67583336 | A | AAATAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(45): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0008 | a0001c0001t0001a0004c0007t0001a0005c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0011others(3): Show | 48 | 392 | 0.1225 | 8 | c.-50 others(17): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 475 | chr11 | TogoVar | ||||||
GSTT2B_chr22_23952414_23966195 | 23954370 | A | ACACACAG others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp2 others(13): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0002c0010others(1): Show | a0001c0002t0001a0001c0002t0004a0002c0005t0004others(2): Show | a0001c0002t0001g0003a0001c0002t0001g0008a0001c0002t0001g0012others(9): Show | 16 | 119 | 0.1345 | 8 | c.*33 others(19): Show |
GSTT2B | ENSG00000133433.11 | transcript | ENST00000290765.9 | protein_coding | 3043 | chr22 | TogoVar | ||||||
GSX1_chr13_27787483_27799768 | 27787711 | G | GACACACA others(1): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 NA18960.hp2 NA19064.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 440 | 0.0091 | 8 | c.-49 others(19): Show |
GSX1 | ENSG00000169840.5 | transcript | ENST00000302945.3 | protein_coding | 4771 | chr13 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54103611 | G | GCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02622.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 3 | 372 | 0.0081 | 8 | c.*16 others(19): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1114 | chr4 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54104455 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01109.hp1 HG01192.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0005g0001others(2): Show | 38 | 372 | 0.1022 | 8 | c.*25 others(19): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1958 | chr4 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54107417 | A | AAGAGAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0002a0001c0002t0004g0002 | 9 | 372 | 0.0242 | 8 | c.*54 others(19): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 4920 | chr4 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144019435 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp1 HG01109.hp2 others(5): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0043others(5): Show | 8 | 124 | 0.0645 | 8 | c.522 others(27): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144043227 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02647.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0040a0001c0001t0008g0056a0001c0001t0008g0057others(1): Show | 4 | 124 | 0.0323 | 8 | c.522 others(27): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144050781 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02055.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(6): Show | 9 | 124 | 0.0726 | 8 | c.522 others(27): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144055334 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG04199.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0033a0001c0003t0036 | a0001c0001t0033g0019a0001c0003t0036g0106 | 2 | 124 | 0.0161 | 8 | c.522 others(27): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144092868 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02055.hp2 HG02155.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(7): Show | 10 | 124 | 0.0807 | 8 | c.521 others(27): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144231843 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0005 | a0002c0002t0001g0050a0002c0002t0005g0053 | 2 | 124 | 0.0161 | 8 | c.-89 others(25): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144317384 | T | TGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00735.hp2 others(27): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0027a0001c0001t0001g0049others(27): Show | 30 | 124 | 0.2419 | 8 | c.-15 others(29): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
GTDC1_chr2_143933068_144337512 | 144318194 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03130.hp1 |
a0001a0010 | a0001c0001a0010c0007 | a0001c0001t0044a0010c0007t0001 | a0001c0001t0044g0095a0010c0007t0001g0085 | 2 | 124 | 0.0161 | 8 | c.-15 others(29): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
GTF2A1L_chr2_48612856_48684604 | 48620779 | G | GAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0001c0012a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0095others(43): Show | 50 | 344 | 0.1454 | 8 | c.22- others(19): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GTF2A1_chr14_81170452_81225959 | 81207139 | G | GTACCTAC others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02602.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0026others(1): Show | a0001c0001t0003g0205a0001c0001t0008g0170a0001c0001t0008g0171others(2): Show | 5 | 350 | 0.0143 | 8 | c.133 others(25): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
GTF2A1_chr14_81170452_81225959 | 81211875 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02135.hp2 NA18987.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0242a0001c0001t0003g0032a0001c0001t0003g0189others(2): Show | 6 | 350 | 0.0171 | 8 | c.132 others(25): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
GTF2A1_chr14_81170452_81225959 | 81221504 | G | GCGCCTCA others(1): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG03195.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0098a0001c0001t0012g0099a0001c0001t0012g0100 | 3 | 350 | 0.0086 | 8 | c.-98 others(17): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 546 | chr14 | TogoVar | ||||||
GTF2A2_chr15_59633062_59662515 | 59660783 | G | GAAAAAAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(425): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0008others(260): Show | 428 | 436 | 0.9817 | 8 | c.-34 others(19): Show |
GTF2A2 | ENSG00000140307.11 | transcript | ENST00000396060.7 | protein_coding | 3269 | chr15 | TogoVar | ||||||
GTF2B_chr1_88847633_88896567 | 88892769 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(62): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 65 | 372 | 0.1747 | 8 | c.-12 others(19): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 1203 | chr1 | TogoVar | ||||||
GTF2B_chr1_88847633_88896567 | 88894027 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01123.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0111others(40): Show | 43 | 372 | 0.1156 | 8 | c.-25 others(19): Show |
GTF2B | ENSG00000137947.12 | transcript | ENST00000370500.10 | protein_coding | 2461 | chr1 | TogoVar | ||||||
GTF2E2_chr8_30573318_30663236 | 30620239 | A | AACACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00558.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0010others(85): Show | 96 | 378 | 0.2540 | 8 | c.259 others(25): Show |
GTF2E2 | ENSG00000197265.9 | transcript | ENST00000355904.9 | protein_coding | 3/7 | chr8 | TogoVar | ||||||
GTF2F1_chr19_6374572_6398164 | 6389266 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG03098.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0011 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0218a0001c0001t0003g0181a0001c0001t0005g0052others(2): Show | 6 | 378 | 0.0159 | 8 | c.326 others(23): Show |
GTF2F1 | ENSG00000125651.14 | transcript | ENST00000394456.10 | protein_coding | 4/12 | chr19 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45168779 | G | GCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0043a0001c0001t0001g0048a0001c0001t0001g0087others(8): Show | 11 | 210 | 0.0524 | 8 | c.304 others(27): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |