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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IFT74_chr9_26951412_27071134 | 26982451 | ATTTTTTT | A | intron_variant | MODIFIER | NA18944.hp2 NA18966.hp1 NA18970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 others(3): Show |
6 | 342 | 0.0175 | -7 | c.306 others(24): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFT74_chr9_26951412_27071134 | 27040544 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01255.hp2 HG02055.hp1 others(3): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0006a0007c0007t0006a0007c0007t0019 | a0003c0003t0006g0112 a0003c0003t0006g0113 a0007c0007t0006g0016 others(3): Show |
6 | 342 | 0.0175 | -7 | c.105 others(26): Show |
IFT74 | ENSG00000096872.17 | transcript | ENST00000380062.10 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
IFT80_chr3_160251986_160404225 | 160294887 | GTGCAGTC | G | intron_variant | MODIFIER | HG03710.hp1 HG04184.hp2 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 a0002c0002t0001g0066 a0002c0002t0001g0067 |
3 | 212 | 0.0142 | -7 | c.131 others(26): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 12/19 | chr3 | TogoVar | |||||||
IFT80_chr3_160251986_160404225 | 160312960 | AAATATAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02630.hp2 HG02647.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0008 | a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 others(3): Show |
6 | 212 | 0.0283 | -7 | c.958 others(24): Show |
IFT80 | ENSG00000068885.15 | transcript | ENST00000326448.12 | protein_coding | 9/19 | chr3 | TogoVar | |||||||
IFT88_chr13_20562157_20696444 | 20578034 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0284 others(12): Show |
17 | 308 | 0.0552 | -7 | c.90+ others(22): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IFT88_chr13_20562157_20696444 | 20609765 | AAAAAAAC | A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01069.hp1 others(52): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0002a0002c0010others(5): Show | a0001c0004t0001a0002c0002t0001a0002c0010t0001others(5): Show | a0001c0004t0001g0006 a0002c0002t0001g0058 a0002c0002t0001g0109 others(52): Show |
55 | 308 | 0.1786 | -7 | c.111 others(26): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
IGBP1_chrX_70128447_70171324 | 70139334 | GAAAAGAA | G | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0063 |
3 | 245 | 0.0122 | -7 | c.482 others(24): Show |
IGBP1 | ENSG00000089289.16 | transcript | ENST00000356413.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IGDCC3_chr15_65322127_65383002 | 65370991 | AGGTGGTG | A | intron_variant | MODIFIER | HG00639.hp1 HG01433.hp2 HG02132.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0018others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0001g0073 a0001c0001t0001g0290 a0001c0001t0001g0301 others(16): Show |
19 | 314 | 0.0605 | -7 | c.409 others(24): Show |
IGDCC3 | ENSG00000174498.14 | transcript | ENST00000327987.9 | protein_coding | 2/13 | chr15 | TogoVar | |||||||
IGF1R_chr15_98643539_98969530 | 98664595 | GTGGAGGT | G | intron_variant | MODIFIER | HG01261.hp1 HG01981.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0076a0001c0001t0077a0001c0002t0007others(1): Show | a0001c0001t0076g0085 a0001c0001t0077g0083 a0001c0002t0007g0086 others(1): Show |
4 | 210 | 0.0191 | -7 | c.94+ others(24): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98680864 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01109.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0008a0001c0001t0010a0001c0001t0015others(35): Show | a0001c0001t0008g0087 a0001c0001t0008g0090 a0001c0001t0010g0202 others(37): Show |
40 | 210 | 0.1905 | -7 | c.95- others(24): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98701324 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG02055.hp1 HG02647.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0026a0001c0001t0069a0001c0001t0081others(5): Show | a0001c0001t0026g0164 a0001c0001t0026g0165 a0001c0001t0069g0079 others(6): Show |
9 | 210 | 0.0429 | -7 | c.95- others(22): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98752930 | CTATTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00639.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0037 a0001c0001t0001g0067 others(12): Show |
15 | 210 | 0.0714 | -7 | c.640 others(26): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98755718 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG00738.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0002g0132 others(26): Show |
29 | 210 | 0.1381 | -7 | c.640 others(26): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98780573 | AAAGAGAG | A | intron_variant | MODIFIER | HG00609.hp2 HG01261.hp1 HG02145.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0024a0001c0001t0035a0001c0001t0076others(11): Show | a0001c0001t0024g0053 a0001c0001t0035g0115 a0001c0001t0076g0085 others(11): Show |
14 | 210 | 0.0667 | -7 | c.640 others(26): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98783958 | ATTTTTTT | A | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp1 HG01255.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(12): Show | a0001c0001t0001g0010 a0001c0001t0004g0112 a0001c0001t0018g0185 others(12): Show |
15 | 210 | 0.0714 | -7 | c.640 others(26): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IGF1R_chr15_98643539_98969530 | 98909307 | GCTGGGGT | G | intron_variant | MODIFIER | HG00735.hp1 NA18522.hp1 |
a0001 | a0001c0022a0001c0023 | a0001c0022t0101a0001c0023t0070 | a0001c0022t0101g0169 a0001c0023t0070g0093 |
2 | 210 | 0.0095 | -7 | c.146 others(24): Show |
IGF1R | ENSG00000140443.15 | transcript | ENST00000650285.1 | protein_coding | 6/20 | chr15 | TogoVar | |||||||
IGF2BP1_chr17_48992385_49061145 | 49004306 | CGGCTGCG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(174): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(54): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0011 others(174): Show |
177 | 318 | 0.5566 | -7 | c.236 others(24): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IGF2BP1_chr17_48992385_49061145 | 49011137 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG01258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0033others(2): Show | a0001c0001t0005g0281 a0001c0001t0005g0310 a0001c0001t0005g0311 others(5): Show |
8 | 318 | 0.0252 | -7 | c.236 others(26): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IGF2BP1_chr17_48992385_49061145 | 49024083 | ATTTTTTT | A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0034a0001c0001t0068 | a0001c0001t0011g0255 a0001c0001t0011g0258 a0001c0001t0011g0259 others(3): Show |
6 | 318 | 0.0189 | -7 | c.237 others(24): Show |
IGF2BP1 | ENSG00000159217.10 | transcript | ENST00000290341.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
IGF2BP2_chr3_185638130_185830042 | 185710152 | ATTTTTTT | A | intron_variant | MODIFIER | HG02071.hp1 HG03195.hp2 HG03492.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0004g0070 a0001c0001t0004g0089 a0001c0001t0005g0098 others(7): Show |
10 | 216 | 0.0463 | -7 | c.240 others(26): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
IGF2BP2_chr3_185638130_185830042 | 185788710 | CTTTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01978.hp2 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0014 a0001c0001t0001g0080 a0001c0001t0001g0081 others(17): Show |
20 | 216 | 0.0926 | -7 | c.239 others(26): Show |
IGF2BP2 | ENSG00000073792.16 | transcript | ENST00000382199.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
IGF2BP3_chr7_23305209_23475491 | 23320947 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(8): Show | a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 others(77): Show |
80 | 230 | 0.3478 | -7 | c.120 others(26): Show |
IGF2BP3 | ENSG00000136231.14 | transcript | ENST00000258729.8 | protein_coding | 10/14 | chr7 | TogoVar | |||||||
IGF2BP3_chr7_23305209_23475491 | 23407940 | GGGGGGCA | G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00642.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0053 others(34): Show |
37 | 230 | 0.1609 | -7 | c.285 others(26): Show |
IGF2BP3 | ENSG00000136231.14 | transcript | ENST00000258729.8 | protein_coding | 3/14 | chr7 | TogoVar | |||||||
IGF2BP3_chr7_23305209_23475491 | 23412842 | CTTTTTTT | C | intron_variant | MODIFIER | HG02559.hp2 HG02886.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0012a0001c0005t0004 | a0001c0001t0006g0003 a0001c0001t0012g0021 a0001c0005t0004g0027 others(3): Show |
6 | 230 | 0.0261 | -7 | c.285 others(24): Show |
IGF2BP3 | ENSG00000136231.14 | transcript | ENST00000258729.8 | protein_coding | 3/14 | chr7 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 160030639 | CAGGCGGT | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(73): Show |
a0001a0002a0005others(7): Show | a0001c0004a0001c0009a0001c0051others(14): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(35): Show | a0001c0004t0001g0222 a0001c0004t0001g0240 a0001c0004t0002g0064 others(72): Show |
76 | 310 | 0.2452 | -7 | c.882 others(22): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IGFBP7_chr4_57025773_57115385 | 57054637 | CACAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01081.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0119 others(7): Show |
10 | 346 | 0.0289 | -7 | c.476 others(26): Show |
IGFBP7 | ENSG00000163453.11 | transcript | ENST00000295666.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
IGFBP7_chr4_57025773_57115385 | 57074058 | TCTCTCTC | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(266): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(251): Show |
269 | 346 | 0.7775 | -7 | c.476 others(26): Show |
IGFBP7 | ENSG00000163453.11 | transcript | ENST00000295666.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
IGFL4_chr19_46034182_46046002 | 46034764 | TTTATATA | T | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01071.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0003c0003t0003a0003c0003t0005others(1): Show | a0001c0001t0006g0011 a0003c0003t0003g0005 a0003c0003t0003g0024 others(2): Show |
21 | 454 | 0.0463 | -7 | c.*51 others(18): Show |
IGFL4 | ENSG00000204869.9 | transcript | ENST00000377697.2 | protein_coding | 4417 | chr19 | TogoVar | |||||||
IGLON5_chr19_51306644_51335891 | 51313688 | TTTCTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0293 others(32): Show |
42 | 418 | 0.1005 | -7 | c.79+ others(22): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IGLON5_chr19_51306644_51335891 | 51315688 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01081.hp2 others(40): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0011 a0001c0001t0003g0011 a0001c0001t0003g0076 others(35): Show |
43 | 418 | 0.1029 | -7 | c.79+ others(22): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IGSF10_chr3_151431203_151466061 | 151462542 | TAAGGTAC | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00621.hp1 others(34): Show |
a0001a0003a0008others(4): Show | a0001c0001a0003c0004a0003c0010others(8): Show | a0001c0001t0003a0003c0004t0003a0003c0010t0005others(8): Show | a0001c0001t0003g0217 a0003c0004t0003g0012 a0003c0004t0003g0029 others(26): Show |
37 | 424 | 0.0873 | -7 | c.-16 others(18): Show |
IGSF10 | ENSG00000152580.9 | transcript | ENST00000282466.4 | protein_coding | 1482 | chr3 | TogoVar | |||||||
IGSF11_chr3_118895557_119039846 | 119023262 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0230 others(83): Show |
88 | 360 | 0.2444 | -7 | c.52+ others(24): Show |
IGSF11 | ENSG00000144847.13 | transcript | ENST00000393775.7 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
IGSF21_chr1_18102798_18383483 | 18115894 | AAAGAAAG | A | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp1 HG01074.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0063 others(29): Show |
32 | 248 | 0.1290 | -7 | c.70+ others(22): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IGSF21_chr1_18102798_18383483 | 18167933 | TCTCCCTG | T | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02965.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0126 a0001c0001t0003g0152 a0001c0001t0003g0223 others(3): Show |
6 | 248 | 0.0242 | -7 | c.70+ others(24): Show |
IGSF21 | ENSG00000117154.12 | transcript | ENST00000251296.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IGSF5_chr21_39740183_39807081 | 39746670 | CACAGTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(245): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0006a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0020a0001c0006t0009others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(218): Show |
248 | 352 | 0.7046 | -7 | c.100 others(22): Show |
IGSF5 | ENSG00000183067.6 | transcript | ENST00000380588.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IGSF5_chr21_39740183_39807081 | 39804767 | CTAAGTGG | C | downstream_gene_variant | MODIFIER | NA18947.hp2 NA19006.hp2 NA19084.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0256 |
3 | 352 | 0.0085 | -7 | c.*34 others(18): Show |
IGSF5 | ENSG00000183067.6 | transcript | ENST00000380588.5 | protein_coding | 2687 | chr21 | TogoVar | |||||||
IKBKB_chr8_42266302_42337460 | 42295116 | CTTTTTTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02886.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 a0003c0003t0001g0166 a0003c0003t0001g0176 others(1): Show |
5 | 278 | 0.0180 | -7 | c.388 others(24): Show |
IKBKB | ENSG00000104365.16 | transcript | ENST00000520810.6 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
IKZF2_chr2_212994698_213156612 | 213151736 | CGGCGGCG | C | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02818.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0038 | a0001c0001t0009g0070 a0001c0001t0009g0251 a0001c0001t0009g0252 others(1): Show |
4 | 254 | 0.0158 | -7 | c.-45 others(16): Show |
IKZF2 | ENSG00000030419.17 | transcript | ENST00000434687.6 | protein_coding | 125 | chr2 | TogoVar | |||||||
IKZF3_chr17_39752718_39869312 | 39861060 | ATAAAAAG | A | intron_variant | MODIFIER | HG01074.hp2 HG01261.hp1 HG01515.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003 | a0001c0001t0014a0001c0001t0018a0001c0001t0019others(11): Show | a0001c0001t0014g0117 a0001c0001t0014g0119 a0001c0001t0014g0121 others(18): Show |
21 | 256 | 0.0820 | -7 | c.7+3 others(20): Show |
IKZF3 | ENSG00000161405.17 | transcript | ENST00000346872.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
IL12RB1_chr19_18053995_18091934 | 18057231 | AAATATTT | A | downstream_gene_variant | MODIFIER | HG01081.hp2 HG02559.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0031 | a0001c0001t0002a0001c0001t0006a0001c0031t0005 | a0001c0001t0002g0053 a0001c0001t0002g0105 a0001c0001t0002g0141 others(2): Show |
5 | 412 | 0.0121 | -7 | c.*23 others(18): Show |
IL12RB1 | ENSG00000096996.16 | transcript | ENST00000593993.7 | protein_coding | 1763 | chr19 | TogoVar | |||||||
IL12RB1_chr19_18053995_18091934 | 18057233 | ATATTTAT | A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(138): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0001g0061 others(129): Show |
141 | 412 | 0.3422 | -7 | c.*23 others(18): Show |
IL12RB1 | ENSG00000096996.16 | transcript | ENST00000593993.7 | protein_coding | 1761 | chr19 | TogoVar | |||||||
IL12RB1_chr19_18053995_18091934 | 18063078 | ATTTTTTT | A | intron_variant | MODIFIER | HG01891.hp2 HG02015.hp2 HG02027.hp1 others(7): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0003a0006c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0316 a0001c0001t0004g0101 a0001c0001t0008g0251 others(7): Show |
10 | 412 | 0.0243 | -7 | c.161 others(24): Show |
IL12RB1 | ENSG00000096996.16 | transcript | ENST00000593993.7 | protein_coding | 13/16 | chr19 | TogoVar | |||||||
IL12RB2_chr1_67302873_67403724 | 67322436 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02622.hp2 others(19): Show |
a0001a0003 | a0001c0005a0001c0016a0001c0017others(2): Show | a0001c0005t0002a0001c0005t0006a0001c0016t0002others(3): Show | a0001c0005t0002g0200 a0001c0005t0002g0201 a0001c0005t0002g0202 others(19): Show |
22 | 346 | 0.0636 | -7 | c.364 others(22): Show |
IL12RB2 | ENSG00000081985.14 | transcript | ENST00000674203.2 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL12RB2_chr1_67302873_67403724 | 67346378 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(181): Show |
a0001a0003a0006others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(23): Show | a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0055 others(180): Show |
184 | 346 | 0.5318 | -7 | c.103 others(26): Show |
IL12RB2 | ENSG00000081985.14 | transcript | ENST00000674203.2 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL12RB2_chr1_67302873_67403724 | 67374899 | ATTTTGTC | A | intron_variant | MODIFIER | HG02896.hp1 HG03041.hp1 HG03540.hp1 |
a0001 | a0001c0011 | a0001c0011t0008 | a0001c0011t0008g0281 a0001c0011t0008g0282 a0001c0011t0008g0321 |
3 | 346 | 0.0087 | -7 | c.171 others(26): Show |
IL12RB2 | ENSG00000081985.14 | transcript | ENST00000674203.2 | protein_coding | 13/16 | chr1 | TogoVar | |||||||
IL12RB2_chr1_67302873_67403724 | 67381765 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00558.hp2 others(95): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0004a0001c0017others(9): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0007others(18): Show | a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0028 others(95): Show |
98 | 346 | 0.2832 | -7 | c.185 others(26): Show |
IL12RB2 | ENSG00000081985.14 | transcript | ENST00000674203.2 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL13RA1_chrX_118722606_118799533 | 118757678 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01884.hp1 HG02895.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0127 others(6): Show |
11 | 280 | 0.0393 | -7 | c.489 others(22): Show |
IL13RA1 | ENSG00000131724.11 | transcript | ENST00000371666.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL13RA1_chrX_118722606_118799533 | 118776541 | GTTTTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0097 others(1): Show |
5 | 280 | 0.0179 | -7 | c.119 others(22): Show |
IL13RA1 | ENSG00000131724.11 | transcript | ENST00000371666.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL16_chr15_81191879_81319058 | 81199031 | ATATATAT | A | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 HG02897.hp2 others(2): Show |
a0002 | a0002c0006 | a0002c0006t0004a0002c0006t0030a0002c0006t0031 | a0002c0006t0004g0003 a0002c0006t0004g0004 a0002c0006t0030g0005 others(2): Show |
5 | 342 | 0.0146 | -7 | c.-10 others(26): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | chr15 | TogoVar | |||||||
IL16_chr15_81191879_81319058 | 81199034 | TATATATA | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00673.hp2 others(72): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0013a0001c0001t0018a0001c0002t0001others(30): Show | a0001c0001t0013g0255 a0001c0001t0018g0215 a0001c0002t0001g0196 others(71): Show |
75 | 342 | 0.2193 | -7 | c.-10 others(26): Show |
IL16 | ENSG00000172349.19 | transcript | ENST00000683961.1 | protein_coding | 1/18 | chr15 | TogoVar |