view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GSN_chr9_121263162_121337842 | 121306506 | T | TATATATC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(93): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 others(75): Show |
96 | 320 | 0.3000 | 7 | c.351 others(24): Show |
GSN | ENSG00000148180.22 | transcript | ENST00000432226.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11892506 | C | CAAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG01123.hp1 others(3): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0013a0001c0013t0024 | a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0206 others(3): Show |
6 | 224 | 0.0268 | 7 | c.699 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
GSPT1_chr16_11863128_11920956 | 11892517 | A | AAAATAAT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00639.hp2 others(73): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0020 | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0002g0220 a0002c0002t0001g0260 a0002c0002t0002g0002 others(69): Show |
76 | 366 | 0.2077 | 7 | c.699 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
GSPT1_chr16_11863128_11920956 | 11892829 | C | CAAAAAAA | intron_variant | MODIFIER | HG01346.hp1 HG01928.hp1 HG01934.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0023others(4): Show | a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0006g0132 others(16): Show |
22 | 30 | 0.7333 | 7 | c.699 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG01167.hp2 HG01993.hp2 others(9): Show |
a0003a0004a0007 | a0003c0003a0003c0012a0004c0009others(1): Show | a0003c0003t0003a0003c0003t0007a0003c0003t0052others(3): Show | a0003c0003t0003g0090 a0003c0003t0003g0107 a0003c0003t0003g0109 others(9): Show |
12 | 33 | 0.3636 | 7 | c.352 others(24): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
GSPT1_chr16_11863128_11920956 | 11915150 | G | GGCGCGCT | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 |
3 | 370 | 0.0081 | 7 | c.352 others(22): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
GSR_chr8_30673066_30732846 | 30676806 | C | CAGCAGAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0090 a0001c0001t0001g0095 others(324): Show |
329 | 346 | 0.9509 | 7 | c.*27 others(18): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 1259 | chr8 | TogoVar | |||||||
GSTA1_chr6_52786371_52808816 | 52806965 | C | CAAACATT | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 others(1): Show |
4 | 434 | 0.0092 | 7 | c.-32 others(18): Show |
GSTA1 | ENSG00000243955.6 | transcript | ENST00000334575.6 | protein_coding | 3150 | chr6 | TogoVar | |||||||
GSTCD_chr4_105703784_105852725 | 105725071 | A | AATTGAAT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0009a0001c0001t0013others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0069 a0001c0001t0003g0094 others(38): Show |
42 | 184 | 0.2283 | 7 | c.895 others(24): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTM2_chr1_109663057_109680286 | 109664341 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00673.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(11): Show |
37 | 48 | 0.7708 | 7 | c.-37 others(18): Show |
GSTM2 | ENSG00000213366.13 | transcript | ENST00000241337.9 | protein_coding | 3715 | chr1 | TogoVar | |||||||
GSTM4_chr1_109651099_109666700 | 109664341 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00673.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(23): Show |
34 | 48 | 0.7083 | 7 | c.*30 others(18): Show |
GSTM4 | ENSG00000168765.19 | transcript | ENST00000369836.9 | protein_coding | 2642 | chr1 | TogoVar | |||||||
GSTO1_chr10_104249892_104272455 | 104250417 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00609.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0047 others(9): Show |
54 | 279 | 0.1935 | 7 | c.-45 others(18): Show |
GSTO1 | ENSG00000148834.13 | transcript | ENST00000369713.10 | protein_coding | 4474 | chr10 | TogoVar | |||||||
GSTO2_chr10_104264184_104309950 | 104272587 | C | CTTTTTTT | intron_variant | MODIFIER | HG01074.hp1 HG01934.hp1 HG01934.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001a0002c0001t0015 | a0001c0002t0001g0031 a0002c0001t0001g0010 a0002c0001t0001g0213 others(3): Show |
8 | 15 | 0.5333 | 7 | c.-23 others(26): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104293869 | G | GGTTGACA | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02109.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0014a0001c0002t0022others(6): Show | a0001c0002t0010g0013 a0001c0002t0010g0041 a0001c0002t0014g0052 others(8): Show |
12 | 298 | 0.0403 | 7 | c.469 others(24): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSTT4_chr22_23993401_24010453 | 23998440 | G | GTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG02015.hp1 HG04184.hp1 NA18971.hp1 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0005 a0003c0003t0005g0038 |
6 | 136 | 0.0441 | 7 | c.*95 others(15): Show |
GSTT4 | ENSG00000276950.6 | transcript | ENST00000621179.6 | protein_coding | 5/5 | 101 | chr22 | TogoVar | ||||||
GSX2_chr4_54095163_54107498 | 54097589 | G | GGGGGTGT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(211): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(4): Show |
214 | 368 | 0.5815 | 7 | c.-27 others(18): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 2573 | chr4 | TogoVar | |||||||
GSX2_chr4_54095163_54107498 | 54104455 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0002t0001g0003 others(1): Show |
96 | 114 | 0.8421 | 7 | c.*25 others(18): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1958 | chr4 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144133151 | A | ATATATAT | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0003a0005 | a0003c0010a0005c0011 | a0003c0010t0001a0005c0011t0021 | a0003c0010t0001g0044 a0005c0011t0021g0075 |
2 | 101 | 0.0198 | 7 | c.521 others(24): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144242960 | T | TAAAAAAA | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp1 NA19240.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0001a0001c0003t0018others(1): Show | a0001c0001t0005g0088 a0001c0003t0001g0103 a0001c0003t0018g0082 others(1): Show |
4 | 62 | 0.0645 | 7 | c.-15 others(26): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
GTF2A1_chr14_81170452_81225959 | 81223829 | C | CAGTATGT | upstream_gene_variant | MODIFIER | HG00621.hp2 HG03831.hp2 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0111 a0001c0001t0001g0126 others(1): Show |
5 | 348 | 0.0144 | 7 | c.-33 others(18): Show |
GTF2A1 | ENSG00000165417.12 | transcript | ENST00000553612.6 | protein_coding | 2871 | chr14 | TogoVar | |||||||
GTF2A2_chr15_59633062_59662515 | 59658155 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp1 HG03516.hp1 HG03669.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0018 a0001c0001t0002g0229 a0001c0001t0003g0010 others(3): Show |
9 | 10 | 0.9000 | 7 | c.-80 others(16): Show |
GTF2A2 | ENSG00000140307.11 | transcript | ENST00000396060.7 | protein_coding | 641 | chr15 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45212462 | T | TTCTTTTC | intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 HG02630.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0002t0001g0173 |
3 | 196 | 0.0153 | 7 | c.386 others(24): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45228669 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp1 HG01192.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0041 others(28): Show |
31 | 130 | 0.2385 | 7 | c.386 others(26): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18367855 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0014 others(11): Show |
16 | 247 | 0.0648 | 7 | c.*19 others(18): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 811 | chr11 | TogoVar | |||||||
GTF2H5_chr6_158163350_158204344 | 158169679 | A | ATGTATAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG01192.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0018others(15): Show | a0001c0001t0001g0139 a0001c0001t0017g0018 a0001c0001t0017g0262 others(22): Show |
27 | 362 | 0.0746 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169700 | A | ATATATTG | intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0111a0001c0001t0123 | a0001c0001t0001g0139 a0001c0001t0111g0034 a0001c0001t0123g0034 |
3 | 380 | 0.0079 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169759 | G | GTATATTA | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0107a0001c0001t0108others(1): Show | a0001c0001t0044g0184 a0001c0001t0044g0185 a0001c0001t0107g0075 others(2): Show |
5 | 372 | 0.0134 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169808 | A | ATATATTG | intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0107a0001c0001t0108others(1): Show | a0001c0001t0044g0184 a0001c0001t0044g0185 a0001c0001t0107g0075 others(2): Show |
5 | 382 | 0.0131 | 7 | c.-34 others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158176799 | C | CTATAGAT | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0060 a0001c0001t0011g0061 a0001c0001t0011g0063 |
3 | 382 | 0.0079 | 7 | c.35+ others(22): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74518112 | G | GCCCCTCT | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02615.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0226 a0002c0003t0001g0230 a0002c0003t0001g0231 others(1): Show |
4 | 260 | 0.0154 | 7 | c.422 others(20): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74568337 | T | TAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 others(83): Show |
86 | 93 | 0.9247 | 7 | c.232 others(26): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF2IRD1_chr7_74448906_74607605 | 74568337 | T | TTAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02280.hp2 others(7): Show |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0004 | a0002c0005t0001g0063 a0002c0005t0001g0122 a0002c0005t0001g0217 others(7): Show |
10 | 17 | 0.5882 | 7 | c.232 others(26): Show |
GTF2IRD1 | ENSG00000006704.11 | transcript | ENST00000424337.7 | protein_coding | 22/26 | chr7 | TogoVar | |||||||
GTF2IRD2B_chr7_75087590_75154817 | 75119191 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01433.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0060 others(8): Show |
11 | 32 | 0.3438 | 7 | c.239 others(24): Show |
GTF2IRD2B | ENSG00000174428.19 | transcript | ENST00000472837.7 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GTF3C3_chr2_196758035_196804683 | 196781357 | A | ATATATAT | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0012 a0001c0001t0001g0067 a0001c0001t0001g0072 others(1): Show |
4 | 53 | 0.0755 | 7 | c.111 others(24): Show |
GTF3C3 | ENSG00000119041.11 | transcript | ENST00000263956.8 | protein_coding | 8/17 | chr2 | TogoVar | |||||||
GTF3C6_chr6_110953706_110972872 | 110960677 | A | ATAAATAT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(144): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(29): Show |
147 | 344 | 0.4273 | 7 | c.247 others(20): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTPBP1_chr22_38700944_38738587 | 38714478 | C | CAAAAAAA | intron_variant | MODIFIER | HG00673.hp1 HG02083.hp1 HG02145.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0007 | a0001c0002t0004g0005 a0001c0002t0004g0056 a0001c0002t0004g0057 others(3): Show |
14 | 298 | 0.0470 | 7 | c.305 others(24): Show |
GTPBP1 | ENSG00000100226.16 | transcript | ENST00000216044.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1015473 | C | CCTGAGCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0037a0001c0002t0047others(2): Show | a0001c0002t0005g0011 a0001c0002t0005g0021 a0001c0002t0005g0022 others(14): Show |
21 | 368 | 0.0571 | 7 | c.160 others(24): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1015605 | C | CCTGAGCT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0037a0001c0002t0047others(2): Show | a0001c0002t0005g0011 a0001c0002t0005g0021 a0001c0002t0005g0022 others(14): Show |
21 | 368 | 0.0571 | 7 | c.160 others(24): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1015612 | G | GCTGAGCA | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0017 | a0001c0002t0017g0152 a0001c0002t0017g0153 a0001c0002t0017g0154 |
3 | 328 | 0.0091 | 7 | c.160 others(24): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 321891 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG02027.hp2 HG04115.hp2 NA18941.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0002g0007 a0001c0001t0002g0034 others(3): Show |
6 | 49 | 0.1224 | 7 | c.-31 others(18): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3096 | chrX | TogoVar | |||||||
GUCA1B_chr6_42178284_42199956 | 42187418 | C | CCTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02109.hp2 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0008 | a0001c0002t0001g0021 a0001c0002t0001g0125 a0001c0002t0001g0126 others(11): Show |
17 | 301 | 0.0565 | 7 | c.357 others(24): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
GUCA1B_chr6_42178284_42199956 | 42190361 | A | ATTTTTTT | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02818.hp2 others(9): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0005a0001c0010t0024 | a0001c0002t0005g0010 a0001c0002t0005g0036 a0001c0002t0005g0107 others(4): Show |
12 | 135 | 0.0889 | 7 | c.208 others(24): Show |
GUCA1B | ENSG00000112599.9 | transcript | ENST00000230361.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
GUCD1_chr22_24535438_24560138 | 24560090 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00673.hp1 HG00733.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0002g0004 a0001c0001t0002g0038 a0001c0001t0002g0110 others(9): Show |
42 | 86 | 0.4884 | 7 | c.-51 others(18): Show |
GUCD1 | ENSG00000138867.17 | transcript | ENST00000435822.6 | protein_coding | 4953 | chr22 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG01081.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0096 a0001c0001t0003g0062 a0001c0001t0003g0091 others(24): Show |
27 | 125 | 0.2160 | 7 | c.199 others(28): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709652 | G | GTTATATA | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01081.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0027others(4): Show | a0001c0001t0005g0124 a0001c0001t0006g0154 a0001c0001t0006g0157 others(6): Show |
9 | 180 | 0.0500 | 7 | c.183 others(24): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709709 | G | GTTATATA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0078 a0001c0001t0002g0114 a0001c0001t0002g0115 others(12): Show |
15 | 245 | 0.0612 | 7 | c.183 others(26): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709734 | G | GTTATATA | intron_variant | MODIFIER | HG02572.hp2 HG04184.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0049a0001c0003t0017 | a0001c0001t0049g0152 a0001c0003t0017g0231 |
2 | 251 | 0.0080 | 7 | c.183 others(26): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106709759 | G | GTTATATA | intron_variant | MODIFIER | HG02572.hp2 HG03927.hp2 HG04184.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0043a0001c0001t0049others(3): Show | a0001c0001t0004g0143 a0001c0001t0043g0041 a0001c0001t0049g0152 others(3): Show |
6 | 125 | 0.0480 | 7 | c.183 others(26): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG01346.hp2 HG01361.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0002g0089 a0001c0001t0002g0115 a0001c0001t0003g0084 others(13): Show |
16 | 75 | 0.2133 | 7 | c.488 others(24): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
GXYLT1_chr12_42076845_42149874 | 42137762 | G | GAAAAAAA | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 others(4): Show |
8 | 70 | 0.1143 | 7 | c.221 others(24): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 1/7 | chr12 | TogoVar |