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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IPO7_chr11_9379652_9453127 | 9436868 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 314 | 0.0032 | 27 | c.226 others(44): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 20/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
IQANK1_chr8_143729139_143795645 | 143748807 | C | CATATAAA others(20): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG01981.hp1 others(6): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0004a0006c0006others(1): Show | a0001c0001t0001a0004c0004t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0161a0001c0001t0001g0164a0004c0004t0001g0151others(6): Show | 9 | 349 | 0.0258 | 27 | c.175 others(44): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IQANK1_chr8_143729139_143795645 | 143748807 | C | CATATAAA others(20): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092a0001c0001t0001g0111 | 2 | 349 | 0.0057 | 27 | c.175 others(44): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IQANK1_chr8_143729139_143795645 | 143748830 | T | TTCATATA others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0003a0004others(10): Show | a0001c0001a0003c0003a0004c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0003c0003t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0046a0001c0001t0001g0047others(130): Show | 133 | 349 | 0.3811 | 27 | c.175 others(44): Show |
IQANK1 | ENSG00000203499.12 | transcript | ENST00000527139.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
IQCA1_chr2_236319151_236512476 | 236357027 | A | ATATTTAT others(20): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 208 | 0.0048 | 27 | c.186 others(46): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 15/18 | chr2 | TogoVar | ||||||
IQCA1_chr2_236319151_236512476 | 236491213 | C | CACACAGT others(20): Show |
intron_variant | MODIFIER | HG01952.hp1 NA18968.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0144a0001c0001t0003g0009a0001c0001t0003g0012 | 3 | 208 | 0.0144 | 27 | c.456 others(44): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 3/18 | chr2 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTATTAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0267a0001c0002t0004g0268a0001c0002t0004g0269 | 3 | 308 | 0.0097 | 27 | c.*25 others(38): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | ||||||
IQCB1_chr3_121764761_121840060 | 121767774 | T | TTTTTTAT others(20): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0241 | 1 | 308 | 0.0033 | 27 | c.*25 others(38): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 1986 | chr3 | TogoVar | ||||||
IQGAP1_chr15_90383242_90507239 | 90496306 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0297 | 1 | 360 | 0.0028 | 27 | c.475 others(44): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76496725 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0016 | a0016c0024 | a0016c0024t0003 | a0016c0024t0003g0198 | 1 | 222 | 0.0045 | 27 | c.146 others(46): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IQGAP2_chr5_76398285_76713132 | 76610050 | T | TCTCTCTC others(20): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0105 | 1 | 222 | 0.0045 | 27 | c.135 others(44): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76644295 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0011 | 1 | 222 | 0.0045 | 27 | c.209 others(46): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IRAG2_chr12_25047706_25113335 | 25108825 | T | TAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 344 | 0.0029 | 27 | c.*76 others(36): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 491 | chr12 | TogoVar | ||||||
IRF1_chr5_132476609_132495773 | 132485849 | A | ACACACAC others(20): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02723.hp2 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0034 | a0001c0002t0010g0090a0001c0002t0034g0040 | 2 | 436 | 0.0046 | 27 | c.668 others(42): Show |
IRF1 | ENSG00000125347.15 | transcript | ENST00000245414.9 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
IRF3_chr19_49654572_49670857 | 49660028 | C | CACACACA others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004 | a0002c0001t0002g0135a0002c0001t0004g0044 | 3 | 400 | 0.0075 | 27 | c.109 others(44): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
IRF6_chr1_209780617_209811142 | 209806757 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 HG01192.hp1 HG01496.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(7): Show | 20 | 428 | 0.0467 | 27 | c.-88 others(36): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 616 | chr1 | TogoVar | ||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02896.hp2 NA19011.hp2 NA19060.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0069 | a0001c0001t0001g0191a0001c0001t0014g0081a0001c0002t0069g0241 | 3 | 278 | 0.0108 | 27 | c.*21 others(46): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0137 | 1 | 278 | 0.0036 | 27 | c.*21 others(46): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0188 | 1 | 278 | 0.0036 | 27 | c.*21 others(46): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
ISG15_chr1_1008497_1019540 | 1019393 | C | CGGCCCAG others(20): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 382 | 0.0026 | 27 | c.*49 others(38): Show |
ISG15 | ENSG00000187608.10 | transcript | ENST00000649529.1 | protein_coding | 4854 | chr1 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13221212 | C | CCCTCCTC others(20): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0065 | 1 | 396 | 0.0025 | 27 | c.-56 others(36): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 61 | chr20 | TogoVar | ||||||
ISOC1_chr5_129089749_129119028 | 129101192 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0087 | 1 | 418 | 0.0024 | 27 | c.310 others(44): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68400707 | A | AAATATTA others(20): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0003 | a0001c0003t0075 | a0001c0003t0075g0164 | 1 | 242 | 0.0041 | 27 | c.164 others(44): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52872575 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0047 | 1 | 322 | 0.0031 | 27 | c.624 others(44): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52902583 | C | CTTTATTT others(20): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0008 | a0003c0008t0008 | a0003c0008t0008g0283 | 1 | 322 | 0.0031 | 27 | c.131 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52911472 | A | ATAGATAC others(20): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0147 | 1 | 322 | 0.0031 | 27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52911541 | C | CATATACT others(20): Show |
intron_variant | MODIFIER | HG03491.hp1 NA18985.hp1 NA18995.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0068a0001c0004t0007 | a0001c0001t0068g0063a0001c0004t0007g0107a0001c0004t0007g0196 | 3 | 322 | 0.0093 | 27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52911579 | T | TATAGTGT others(20): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0129 | 1 | 322 | 0.0031 | 27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52911605 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0041 | 1 | 322 | 0.0031 | 27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52911661 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0015 | 1 | 322 | 0.0031 | 27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52912483 | T | TGTATTAT others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00621.hp1 others(60): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(38): Show | a0001c0001t0003g0105a0001c0001t0007g0041a0001c0001t0008g0257others(60): Show | 63 | 322 | 0.1957 | 27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA1_chr5_52782916_52964209 | 52912510 | G | GGTATTAT others(20): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0015 | 1 | 322 | 0.0031 | 27 | c.185 others(46): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 14/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0017 | 2 | 354 | 0.0057 | 27 | c.*42 others(38): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | ||||||
ITGA2B_chr17_44367181_44394649 | 44368146 | A | ATATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 354 | 0.0028 | 27 | c.*42 others(38): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4034 | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50085958 | T | TTAGATTA others(20): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 402 | 0.0025 | 27 | c.292 others(46): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ITGA6_chr2_172422586_172511459 | 172503600 | A | ATGAAGAG others(20): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0177 | 1 | 352 | 0.0028 | 27 | c.323 others(44): Show |
ITGA6 | ENSG00000091409.16 | transcript | ENST00000442250.6 | protein_coding | 25/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAM_chr16_31254975_31337877 | 31258303 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0156 | 1 | 244 | 0.0041 | 27 | c.-17 others(38): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31258303 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0152 | 1 | 244 | 0.0041 | 27 | c.-17 others(38): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1671 | chr16 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 308 | 0.0033 | 27 | c.243 others(44): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGB3BP_chr1_63435770_63528225 | 63472443 | T | TCCCTCTC others(20): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03491.hp1 HG03492.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262a0001c0001t0001g0266a0001c0001t0001g0275others(2): Show | 5 | 374 | 0.0134 | 27 | c.254 others(44): Show |
ITGB3BP | ENSG00000142856.17 | transcript | ENST00000271002.15 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
ITGB3_chr17_47248827_47318743 | 47308160 | A | AAATAATA others(20): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 370 | 0.0027 | 27 | c.230 others(44): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01978.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0057a0001c0003t0001g0148a0001c0003t0001g0203others(4): Show | 7 | 306 | 0.0229 | 27 | c.101 others(46): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7737840 | T | TATAATAT others(20): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 380 | 0.0026 | 27 | c.195 others(44): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7738176 | T | TAAAATAT others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01952.hp2 HG06807.hp1 others(7): Show |
a0001a0013 | a0001c0001a0013c0012 | a0001c0001t0001a0013c0012t0001 | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0059others(7): Show | 10 | 380 | 0.0263 | 27 | c.195 others(44): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITK_chr5_157175840_157260185 | 157233963 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0002g0185 | 2 | 348 | 0.0058 | 27 | c.768 others(44): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITLN2_chr1_160940025_160959809 | 160942871 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 NA19030.hp1 |
a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0027 | 2 | 480 | 0.0042 | 27 | c.*22 others(38): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 2153 | chr1 | TogoVar | ||||||
ITM2A_chrX_79355384_79372334 | 79372004 | T | TTTGTGGT others(20): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00621.hp1 others(46): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0002g0004a0001c0001t0003g0003others(7): Show | 49 | 334 | 0.1467 | 27 | c.-47 others(38): Show |
ITM2A | ENSG00000078596.11 | transcript | ENST00000373298.7 | protein_coding | 4671 | chrX | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26605120 | A | ATAAAAAA others(20): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0024 | a0001c0024t0010 | a0001c0024t0010g0124 | 1 | 142 | 0.0070 | 27 | c.346 others(46): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 26/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26772488 | A | ATAATGTA others(20): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0020 | 1 | 142 | 0.0070 | 27 | c.163 others(46): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
IVNS1ABP_chr1_185291388_185322243 | 185292366 | C | CTTTTTCC others(20): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG02071.hp1 HG02074.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0005a0001c0001t0003g0043a0001c0001t0003g0103others(2): Show | 19 | 380 | 0.0500 | 27 | c.*56 others(38): Show |
IVNS1ABP | ENSG00000116679.16 | transcript | ENST00000367498.8 | protein_coding | 4021 | chr1 | TogoVar |