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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQCM_chr4_149346709_149820843 | 149486064 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 a0001c0001t0002g0197 |
2 | 252 | 0.0079 | 15 | c.122 others(36): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149726076 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0029 | 1 | 252 | 0.0040 | 15 | c.385 others(32): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
IQCN_chr19_18252098_18279452 | 18276003 | C | CTCCAGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(305): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0053a0002c0002others(44): Show | a0001c0001t0001a0001c0001t0002a0001c0053t0001others(48): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0034 others(238): Show |
308 | 434 | 0.7097 | 15 | c.-17 others(26): Show |
IQCN | ENSG00000130518.18 | transcript | ENST00000392413.5 | protein_coding | 1552 | chr19 | TogoVar | |||||||
IQGAP1_chr15_90383242_90507239 | 90481269 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0355 | 1 | 360 | 0.0028 | 15 | c.333 others(32): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 26/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
IQGAP1_chr15_90383242_90507239 | 90496305 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0291 | 1 | 360 | 0.0028 | 15 | c.475 others(32): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 36/37 | chr15 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76436517 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18968.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0003 | a0002c0001t0001g0133 a0002c0001t0003g0132 |
2 | 222 | 0.0090 | 15 | c.47- others(32): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76436517 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0016 | a0016c0047 | a0016c0047t0004 | a0016c0047t0004g0189 | 1 | 222 | 0.0045 | 15 | c.47- others(32): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76496725 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01243.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0001a0003c0004others(4): Show | a0001c0002t0001a0001c0002t0002a0002c0001t0003others(9): Show | a0001c0002t0001g0070 a0001c0002t0002g0178 a0002c0001t0003g0132 others(10): Show |
13 | 222 | 0.0586 | 15 | c.146 others(34): 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(8): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18998.hp1 |
a0002 | a0002c0001 | a0002c0001t0004a0002c0001t0005 | a0002c0001t0004g0171 a0002c0001t0005g0042 |
2 | 222 | 0.0090 | 15 | c.135 others(32): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | chr5 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76667877 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03453.hp2 |
a0001a0013 | a0001c0002a0013c0019 | a0001c0002t0014a0013c0019t0001 | a0001c0002t0014g0069 a0013c0019t0001g0217 |
2 | 222 | 0.0090 | 15 | c.268 others(32): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 22/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76689230 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19030.hp2 |
a0002a0026 | a0002c0013a0026c0033 | a0002c0013t0001a0026c0033t0004 | a0002c0013t0001g0209 a0026c0033t0004g0113 |
2 | 222 | 0.0090 | 15 | c.390 others(34): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQSEC1_chr3_12892043_13078429 | 13012964 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0169 | 1 | 250 | 0.0040 | 15 | c.23+ others(32): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
IQSEC2_chrX_53227876_53326350 | 53323893 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 213 | 0.0047 | 15 | c.-27 others(26): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 2544 | chrX | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25077361 | G | GAGATATA others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG02976.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0039 a0002c0002t0001g0043 a0002c0002t0001g0044 |
3 | 344 | 0.0087 | 15 | c.25- others(30): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25100000 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG02976.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0003others(1): Show | a0001c0001t0001g0039 a0003c0003t0001g0173 a0003c0003t0003g0060 others(1): Show |
4 | 344 | 0.0116 | 15 | c.742 others(32): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25108825 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(13): Show |
a0002a0003a0004others(2): Show | a0002c0002a0003c0003a0004c0004others(2): Show | a0002c0002t0001a0003c0003t0003a0004c0004t0001others(2): Show | a0002c0002t0001g0006 a0002c0002t0001g0038 a0002c0002t0001g0052 others(12): Show |
16 | 344 | 0.0465 | 15 | c.*76 others(24): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 491 | chr12 | TogoVar | |||||||
IRAK1_chrX_154005507_154024902 | 154005581 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG03453.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0040 a0003c0003t0002g0047 |
2 | 280 | 0.0071 | 15 | c.*62 others(26): Show |
IRAK1 | ENSG00000184216.15 | transcript | ENST00000369980.8 | protein_coding | 4925 | chrX | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10162872 | T | TATATATA others(8): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0190 | 1 | 292 | 0.0034 | 15 | c.-20 others(26): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 2046 | chr3 | TogoVar | |||||||
IRAK2_chr3_10159919_10248745 | 10174932 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02559.hp2 HG02738.hp1 others(3): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0005a0005c0007others(2): Show | a0001c0001t0001a0004c0005t0001a0005c0007t0001others(2): Show | a0001c0001t0001g0209 a0004c0005t0001g0210 a0005c0007t0001g0163 others(3): Show |
6 | 292 | 0.0206 | 15 | c.95- others(30): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10215751 | T | TACAACAC others(8): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133 | 1 | 292 | 0.0034 | 15 | c.789 others(32): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224538 | A | ACCCTGCA others(8): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0007 | a0007c0013 | a0007c0013t0001 | a0007c0013t0001g0099 | 1 | 292 | 0.0034 | 15 | c.120 others(34): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK3_chr12_66184214_66259622 | 66214539 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0058 others(103): Show |
109 | 346 | 0.3150 | 15 | c.589 others(32): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43760197 | A | ATGCCAAA others(8): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00738.hp1 others(99): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(23): Show | a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0021 others(63): Show |
102 | 354 | 0.2881 | 15 | c.-10 others(32): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43775874 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02630.hp1 HG02896.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0015 a0002c0002t0006g0026 a0002c0002t0006g0062 |
6 | 354 | 0.0170 | 15 | c.717 others(32): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK4_chr12_43753951_43794541 | 43790275 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0008 | 1 | 354 | 0.0028 | 15 | c.*35 others(26): Show |
IRAK4 | ENSG00000198001.16 | transcript | ENST00000613694.5 | protein_coding | 735 | chr12 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78434369 | C | CACACACA others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0019 | 1 | 420 | 0.0024 | 15 | c.-39 others(26): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3846 | chr15 | TogoVar | |||||||
IREB2_chr15_78433216_78506453 | 78504595 | G | GAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01074.hp2 others(49): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0002a0001c0001t0019a0001c0001t0027others(2): Show | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(46): Show |
52 | 420 | 0.1238 | 15 | c.*64 others(26): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3143 | chr15 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234600201 | C | CCCCGCCC others(8): Show |
downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0017 | 1 | 420 | 0.0024 | 15 | c.*69 others(26): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4067 | chr1 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234600201 | C | CCCCGTCC others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00673.hp1 others(77): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0010others(13): Show | a0001c0002t0002g0002 a0001c0002t0007g0009 a0001c0002t0010g0013 others(13): Show |
80 | 420 | 0.1905 | 15 | c.*69 others(26): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4067 | chr1 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234600217 | C | CCCGTCCC others(8): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0005 | a0001c0005t0057 | a0001c0005t0057g0080 | 1 | 420 | 0.0024 | 15 | c.*69 others(26): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4051 | chr1 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234600232 | T | TCCGCCCC others(8): Show |
downstream_gene_variant | MODIFIER | NA19000.hp2 NA19062.hp1 NA19062.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 a0002c0001t0001g0055 |
3 | 420 | 0.0071 | 15 | c.*69 others(26): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4036 | chr1 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234600232 | T | TCCGTTCT others(8): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0005 | 3 | 420 | 0.0071 | 15 | c.*69 others(26): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4036 | chr1 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234610224 | C | CTCTCCCT others(8): Show |
upstream_gene_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0001 | a0002c0001t0056 | a0002c0001t0056g0079 | 1 | 420 | 0.0024 | 15 | c.-73 others(24): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 47 | chr1 | TogoVar | |||||||
IRF6_chr1_209780617_209811142 | 209806757 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0102 | 1 | 428 | 0.0023 | 15 | c.-88 others(24): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 616 | chr1 | TogoVar | |||||||
IRF6_chr1_209780617_209811142 | 209806895 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp2 others(21): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0004a0001c0002t0009a0001c0004t0004others(1): Show | a0001c0002t0004g0009 a0001c0002t0004g0013 a0001c0002t0004g0022 others(13): Show |
24 | 428 | 0.0561 | 15 | c.-10 others(26): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 754 | chr1 | TogoVar | |||||||
IRF8_chr16_85894162_85927606 | 85904812 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0225 |
2 | 432 | 0.0046 | 15 | c.174 others(32): Show |
IRF8 | ENSG00000140968.12 | transcript | ENST00000268638.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IRS1_chr2_226726312_226804820 | 226742713 | G | GGAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp2 |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0066a0002c0004t0049 | a0001c0002t0066g0210 a0002c0004t0049g0085 |
2 | 278 | 0.0072 | 15 | c.*22 others(32): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19056.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0185 a0001c0002t0002g0227 |
2 | 278 | 0.0072 | 15 | c.*21 others(34): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0071a0001c0002t0002 | a0001c0001t0071g0267 a0001c0002t0002g0229 |
2 | 278 | 0.0072 | 15 | c.*21 others(34): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02056.hp1 HG03688.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0174 a0001c0001t0003g0173 a0001c0002t0002g0248 others(1): Show |
4 | 278 | 0.0144 | 15 | c.*21 others(34): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATTTTT others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0062a0001c0005t0033 | a0001c0001t0062g0121 a0001c0005t0033g0052 |
2 | 278 | 0.0072 | 15 | c.*21 others(34): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRS4_chrX_108714946_108741563 | 108715248 | C | CTTCTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA19004.hp1 | a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0020 | 1 | 308 | 0.0033 | 15 | c.*72 others(26): Show |
IRS4 | ENSG00000133124.12 | transcript | ENST00000372129.4 | protein_coding | 4697 | chrX | TogoVar | |||||||
ISL1_chr5_51378448_51399730 | 51390642 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03491.hp2 NA18983.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0126 |
3 | 342 | 0.0088 | 15 | c.766 others(30): Show |
ISL1 | ENSG00000016082.15 | transcript | ENST00000230658.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13221219 | A | ACTACTCC others(8): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 396 | 0.0025 | 15 | c.-55 others(24): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 54 | chr20 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13221219 | A | ACTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 NA18953.hp2 NA18955.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0252 a0001c0001t0002g0304 a0001c0002t0001g0261 others(1): Show |
4 | 396 | 0.0101 | 15 | c.-55 others(24): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 54 | chr20 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13268114 | G | GTCTTCTC others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01069.hp1 others(47): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0085 a0001c0001t0001g0086 others(45): Show |
50 | 396 | 0.1263 | 15 | c.139 others(32): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13273215 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01243.hp2 HG01934.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0231 others(10): Show |
13 | 396 | 0.0328 | 15 | c.378 others(32): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ISOC1_chr5_129089749_129119028 | 129101192 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0137 | 1 | 418 | 0.0024 | 15 | c.310 others(32): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISOC1_chr5_129089749_129119028 | 129101192 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 | 1 | 418 | 0.0024 | 15 | c.310 others(32): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISOC1_chr5_129089749_129119028 | 129101192 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 | 1 | 418 | 0.0024 | 15 | c.310 others(32): Show |
ISOC1 | ENSG00000066583.12 | transcript | ENST00000173527.6 | protein_coding | 1/4 | chr5 | TogoVar |