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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN2B_chr12_13532337_13986602 | 13834218 | T | TTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0180 | 1 | 188 | 0.0053 | 19 | c.411 others(38): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 3/13 | chr12 | TogoVar | |||||||
GRIN2B_chr12_13532337_13986602 | 13954811 | G | GAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03225.hp1 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0016a0001c0011t0007 | a0001c0002t0016g0180 a0001c0011t0007g0148 |
2 | 15 | 0.1333 | 19 | c.-19 others(38): Show |
GRIN2B | ENSG00000273079.7 | transcript | ENST00000609686.4 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48426224 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02486.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0002a0001c0007t0004 | a0001c0002t0002g0288 a0001c0007t0004g0309 |
2 | 304 | 0.0066 | 19 | c.225 others(38): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GRIP1_chr12_66342431_66684076 | 66451383 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 10 | 0.1000 | 19 | c.135 others(38): Show |
GRIP1 | ENSG00000155974.14 | transcript | ENST00000359742.9 | protein_coding | 11/24 | chr12 | TogoVar | |||||||
GRK2_chr11_67261473_67291556 | 67274495 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0122 a0001c0002t0001g0021 a0001c0002t0001g0116 |
5 | 14 | 0.3571 | 19 | c.114 others(36): Show |
GRK2 | ENSG00000173020.11 | transcript | ENST00000308595.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2988075 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03017.hp1 |
a0005a0006 | a0005c0005a0006c0006 | a0005c0005t0002a0006c0006t0002 | a0005c0005t0002g0037 a0006c0006t0002g0172 |
2 | 108 | 0.0185 | 19 | c.149 others(34): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GRK5_chr10_119202571_119464745 | 119335176 | C | CTCTCTCT others(12): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0002 | a0003c0002t0061 | a0003c0002t0061g0165 | 1 | 191 | 0.0052 | 19 | c.148 others(36): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
GRK7_chr3_141758408_141824352 | 141777322 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0004 a0001c0001t0001g0066 a0001c0001t0001g0070 others(51): Show |
55 | 131 | 0.4198 | 19 | c.-11 others(36): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRM1_chr6_146024062_146442601 | 146146103 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02895.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0003 | a0001c0001t0002g0150 a0002c0002t0003g0050 |
2 | 3 | 0.6667 | 19 | c.701 others(38): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRM1_chr6_146024062_146442601 | 146396093 | T | TATCTATC others(12): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0005a0001c0006t0001 | a0001c0001t0001g0004 a0001c0004t0005g0083 a0001c0006t0001g0022 |
3 | 151 | 0.0199 | 19 | c.173 others(38): Show |
GRM1 | ENSG00000152822.15 | transcript | ENST00000282753.6 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GRM3_chr7_86638909_86869879 | 86746341 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 28 | 0.0357 | 19 | c.-14 others(40): Show |
GRM3 | ENSG00000198822.11 | transcript | ENST00000361669.7 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
GRM5_chr11_88499642_89070982 | 88681565 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01978.hp1 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0090 others(5): Show |
8 | 15 | 0.5333 | 19 | c.912 others(38): Show |
GRM5 | ENSG00000168959.15 | transcript | ENST00000305447.5 | protein_coding | 3/9 | chr11 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 6901604 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 14 | 0.0714 | 19 | c.519 others(38): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 6998119 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 HG01981.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0002g0064 others(3): Show |
6 | 13 | 0.4615 | 19 | c.519 others(40): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 7259953 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0002g0066 a0001c0002t0002g0023 a0001c0002t0002g0030 others(4): Show |
7 | 9 | 0.7778 | 19 | c.737 others(38): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 7661794 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0069 | 1 | 16 | 0.0625 | 19 | c.245 others(40): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GRM8_chr7_126433598_127257941 | 126775479 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103 | 1 | 42 | 0.0238 | 19 | c.115 others(38): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 127055192 | G | GAAACTTC others(12): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(83): Show |
86 | 108 | 0.7963 | 19 | c.727 others(38): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 3/10 | chr7 | TogoVar | |||||||
GRPR_chrX_16118565_16158518 | 16120873 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 NA18965.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0013 | a0001c0002t0003g0027 a0001c0002t0013g0011 |
2 | 134 | 0.0149 | 19 | c.-30 others(30): Show |
GRPR | ENSG00000126010.6 | transcript | ENST00000380289.3 | protein_coding | 2691 | chrX | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59219540 | A | AGAGGAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01981.hp1 HG02615.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0026 others(3): Show |
15 | 194 | 0.0773 | 19 | c.-72 others(28): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 617 | chr18 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113332345 | A | ACACACGT others(12): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03017.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0196 a0001c0001t0001g0206 |
3 | 284 | 0.0106 | 19 | c.563 others(36): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
GRTP1_chr13_113319163_113369130 | 113363717 | A | AACCCACC others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(25): Show |
29 | 286 | 0.1014 | 19 | c.181 others(32): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
GRWD1_chr19_48440983_48462022 | 48461550 | A | AAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0018 | a0001c0002t0008g0006 a0001c0002t0018g0027 |
2 | 367 | 0.0054 | 19 | c.*85 others(30): Show |
GRWD1 | ENSG00000105447.13 | transcript | ENST00000253237.10 | protein_coding | 4529 | chr19 | TogoVar | |||||||
GRXCR1_chr4_42887713_43035658 | 42990173 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03688.hp1 NA18965.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0147 a0002c0002t0001g0213 a0002c0002t0001g0220 others(2): Show |
5 | 18 | 0.2778 | 19 | c.627 others(38): Show |
GRXCR1 | ENSG00000215203.3 | transcript | ENST00000399770.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSAP_chr7_77305751_77421349 | 77377237 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG03471.hp2 others(5): Show |
a0002a0003 | a0002c0003a0002c0007a0003c0004 | a0002c0003t0001a0002c0007t0001a0003c0004t0002 | a0002c0003t0001g0069 a0002c0003t0001g0089 a0002c0003t0001g0319 others(5): Show |
8 | 111 | 0.0721 | 19 | c.681 others(32): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 9/30 | chr7 | TogoVar | |||||||
GSAP_chr7_77305751_77421349 | 77414844 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0189 | 1 | 3 | 0.3333 | 19 | c.109 others(36): Show |
GSAP | ENSG00000186088.16 | transcript | ENST00000257626.12 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
GSDMA_chr17_39958004_39982768 | 39968339 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01168.hp2 HG01169.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0235 a0003c0003t0003g0236 a0003c0003t0003g0238 |
3 | 101 | 0.0297 | 19 | c.392 others(36): Show |
GSDMA | ENSG00000167914.12 | transcript | ENST00000301659.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85627044 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0030 a0001c0001t0005g0160 |
2 | 23 | 0.0870 | 19 | c.8-6 others(32): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653270 | T | TCCTCCTC others(12): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0019 | a0019c0031 | a0019c0031t0001 | a0019c0031t0001g0166 | 1 | 223 | 0.0045 | 19 | c.427 others(34): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85671439 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG02572.hp1 |
a0002a0009 | a0002c0012a0009c0013 | a0002c0012t0019a0009c0013t0019a0009c0013t0053 | a0002c0012t0019g0239 a0009c0013t0019g0284 a0009c0013t0053g0183 |
3 | 80 | 0.0375 | 19 | c.351 others(36): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27813281 | C | CCCTCTAT others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0020others(7): Show | a0001c0001t0003g0082 a0001c0001t0003g0125 a0001c0001t0007g0045 others(13): Show |
16 | 238 | 0.0672 | 19 | c.831 others(36): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 5/6 | chr16 | TogoVar | |||||||
GSG1L_chr16_27782528_28068714 | 27911280 | T | TCTCTCTC others(12): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 197 | 0.0051 | 19 | c.398 others(38): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 2/6 | chr16 | TogoVar | |||||||
GSPT1_chr16_11863128_11920956 | 11911854 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0092 | 1 | 22 | 0.0455 | 19 | c.352 others(36): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
GSR_chr8_30673066_30732846 | 30700723 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 4 | 0.2500 | 19 | c.641 others(34): Show |
GSR | ENSG00000104687.14 | transcript | ENST00000221130.11 | protein_coding | 5/12 | chr8 | TogoVar | |||||||
GSTCD_chr4_105703784_105852725 | 105766887 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0122 a0001c0001t0003g0125 a0001c0002t0002g0083 |
3 | 21 | 0.1429 | 19 | c.124 others(40): Show |
GSTCD | ENSG00000138780.15 | transcript | ENST00000515279.6 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104293563 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG01515.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0020a0001c0002t0046others(1): Show | a0001c0002t0002g0006 a0001c0002t0020g0006 a0001c0002t0046g0098 others(1): Show |
5 | 132 | 0.0379 | 19 | c.469 others(36): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GSTO2_chr10_104264184_104309950 | 104309331 | T | TATATATA others(12): Show |
downstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0074 | 1 | 271 | 0.0037 | 19 | c.*10 others(32): Show |
GSTO2 | ENSG00000065621.15 | transcript | ENST00000338595.7 | protein_coding | 4382 | chr10 | TogoVar | |||||||
GSTP1_chr11_67578812_67591653 | 67583374 | T | TATAAAAT others(12): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 340 | 0.0059 | 19 | c.-47 others(28): Show |
GSTP1 | ENSG00000084207.18 | transcript | ENST00000398606.10 | protein_coding | 437 | chr11 | TogoVar | |||||||
GSX2_chr4_54095163_54107498 | 54104455 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 3 | 21 | 0.1429 | 19 | c.*25 others(30): Show |
GSX2 | ENSG00000180613.11 | transcript | ENST00000326902.7 | protein_coding | 1958 | chr4 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144136395 | A | AAAGGAAA others(12): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0078 | 1 | 19 | 0.0526 | 19 | c.521 others(36): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 6/11 | chr2 | TogoVar | |||||||
GTDC1_chr2_143933068_144337512 | 144242960 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0089 | 1 | 59 | 0.0169 | 19 | c.-15 others(38): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
GTF2A1L_chr2_48612856_48684604 | 48615466 | A | AGGAGAGG others(12): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(74): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0003others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(69): Show |
77 | 99 | 0.7778 | 19 | c.-24 others(30): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 2389 | chr2 | TogoVar | |||||||
GTF2A1L_chr2_48612856_48684604 | 48615522 | C | CGGGAGAG others(12): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 others(4): Show |
7 | 341 | 0.0205 | 19 | c.-23 others(30): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 2333 | chr2 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45212451 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02818.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0056 others(2): Show |
5 | 174 | 0.0287 | 19 | c.386 others(36): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45228283 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 101 | 0.0099 | 19 | c.386 others(38): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2H1_chr11_18317567_18372045 | 18367855 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0015 | 1 | 232 | 0.0043 | 19 | c.*19 others(30): Show |
GTF2H1 | ENSG00000110768.12 | transcript | ENST00000265963.9 | protein_coding | 811 | chr11 | TogoVar | |||||||
GTF2H5_chr6_158163350_158204344 | 158169681 | A | ATATATTA others(12): Show |
intron_variant | MODIFIER | HG04115.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0024 | a0001c0001t0006g0035 a0001c0001t0024g0035 |
2 | 340 | 0.0059 | 19 | c.-34 others(34): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158169707 | G | GTATATTA others(12): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0204 | 1 | 351 | 0.0028 | 19 | c.-34 others(34): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GTF2H5_chr6_158163350_158204344 | 158193204 | T | TAGGAGGA others(12): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(163): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(54): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(146): Show |
166 | 377 | 0.4403 | 19 | c.*10 others(30): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 3/3 | 1054 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GTF2H5_chr6_158163350_158204344 | 158193204 | T | TAGGAGGT others(12): Show |
3_prime_UTR_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0107a0001c0001t0108others(1): Show | a0001c0001t0044g0184 a0001c0001t0044g0185 a0001c0001t0107g0075 others(2): Show |
5 | 216 | 0.0231 | 19 | c.*10 others(30): Show |
GTF2H5 | ENSG00000272047.4 | transcript | ENST00000607778.2 | protein_coding | 3/3 | 1055 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |