| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IQCM_chr4_149346709_149820843 | 149626392 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01081.hp2 others(27): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0026a0001c0001t0001g0046a0001c0001t0001g0058others(27): Show | 30 | 252 | 0.1191 | 24 | c.566 others(41): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | ||||||
| IQGAP1_chr15_90383242_90507239 | 90496306 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03139.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0293a0001c0002t0003g0295a0001c0002t0004g0284 | 3 | 360 | 0.0083 | 24 | c.475 others(41): Show |
IQGAP1 | ENSG00000140575.13 | transcript | ENST00000268182.10 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| IQGAP2_chr5_76398285_76713132 | 76573668 | G | GTGGTTCC others(17): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 |
a0001a0002 | a0001c0018a0002c0001 | a0001c0018t0001a0002c0001t0016 | a0001c0018t0001g0125a0002c0001t0016g0060 | 2 | 222 | 0.0090 | 24 | c.382 others(41): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IQGAP2_chr5_76398285_76713132 | 76610050 | T | TTCTCTCT others(17): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0096 | 1 | 222 | 0.0045 | 24 | c.135 others(41): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IQGAP2_chr5_76398285_76713132 | 76610076 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0164 | 1 | 222 | 0.0045 | 24 | c.135 others(41): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IQGAP2_chr5_76398285_76713132 | 76610076 | C | CTCTCTCT others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 NA18962.hp2 |
a0002 | a0002c0001a0002c0055 | a0002c0001t0005a0002c0055t0001 | a0002c0001t0005g0013a0002c0055t0001g0114 | 2 | 222 | 0.0090 | 24 | c.135 others(41): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IQGAP2_chr5_76398285_76713132 | 76644295 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG02165.hp2 others(5): Show |
a0001a0003a0007others(1): Show | a0001c0002a0001c0041a0003c0004others(2): Show | a0001c0002t0002a0001c0002t0005a0001c0041t0009others(4): Show | a0001c0002t0002g0117a0001c0002t0005g0031a0001c0002t0005g0053others(5): Show | 8 | 222 | 0.0360 | 24 | c.209 others(43): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| IQSEC1_chr3_12892043_13078429 | 12967744 | C | CGGGGGCG others(17): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02896.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(3): Show | a0001c0001t0001g0065a0001c0001t0002g0106a0001c0001t0022g0060others(4): Show | 7 | 250 | 0.0280 | 24 | c.24- others(41): Show |
IQSEC1 | ENSG00000144711.17 | transcript | ENST00000613206.2 | protein_coding | 1/13 | chr3 | TogoVar | ||||||
| IQSEC2_chrX_53227876_53326350 | 53311121 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0156a0001c0001t0002g0143a0001c0002t0001g0142others(2): Show | 5 | 213 | 0.0235 | 24 | c.707 others(41): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 1/14 | chrX | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 126544 | G | GGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01070.hp2 NA18995.hp1 NA18995.hp2 |
a0001 | a0001c0006a0001c0019a0001c0034 | a0001c0006t0002a0001c0019t0001a0001c0034t0001 | a0001c0006t0002g0095a0001c0019t0001g0139a0001c0034t0001g0214 | 3 | 282 | 0.0106 | 24 | c.903 others(39): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| IRAG1_chr11_10568095_10698755 | 10622876 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01169.hp1 HG01928.hp2 others(20): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0006a0002c0011others(3): Show | a0001c0002t0002a0002c0006t0002a0002c0011t0002others(3): Show | a0001c0002t0002g0136a0001c0002t0002g0157a0001c0002t0002g0158others(20): Show | 23 | 278 | 0.0827 | 24 | c.144 others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 10/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10622896 | C | CACACACA others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01099.hp2 others(1): Show |
a0006a0014 | a0006c0009a0014c0022 | a0006c0009t0006a0014c0022t0006 | a0006c0009t0006g0126a0006c0009t0006g0207a0006c0009t0006g0245others(1): Show | 4 | 278 | 0.0144 | 24 | c.144 others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 10/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680344 | G | GGAAAGAA others(17): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0188 | 1 | 278 | 0.0036 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680344 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18522.hp2 NA20300.hp2 |
a0002 | a0002c0003a0002c0006 | a0002c0003t0004a0002c0006t0015 | a0002c0003t0004g0051a0002c0006t0015g0026a0002c0006t0015g0059 | 3 | 278 | 0.0108 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18980.hp2 |
a0001a0021 | a0001c0002a0021c0040 | a0001c0002t0002a0021c0040t0001 | a0001c0002t0002g0185a0021c0040t0001g0159 | 2 | 278 | 0.0072 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19076.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0018 | a0001c0001t0001g0165a0001c0002t0018g0008 | 2 | 278 | 0.0072 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0120 | 1 | 278 | 0.0036 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680368 | A | AGAAAGAA others(17): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117 | 1 | 278 | 0.0036 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680516 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 278 | 0.0036 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG1_chr11_10568095_10698755 | 10680516 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0164 | 1 | 278 | 0.0036 | 24 | c.67+ others(41): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
| IRAG2_chr12_25047706_25113335 | 25077174 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 344 | 0.0029 | 24 | c.25- others(39): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| IRAG2_chr12_25047706_25113335 | 25077220 | A | AATATATA others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(89): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0007a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0039a0001c0001t0001g0042others(86): Show | 92 | 344 | 0.2674 | 24 | c.25- others(39): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| IRAG2_chr12_25047706_25113335 | 25108825 | T | TAAAAAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02074.hp1 HG02135.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0091a0001c0001t0001g0095a0001c0001t0001g0249others(4): Show | 8 | 344 | 0.0233 | 24 | c.*76 others(33): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 491 | chr12 | TogoVar | ||||||
| IRAK1BP1_chr6_78862551_78908102 | 78898411 | A | AATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG01496.hp1 HG02148.hp2 NA18941.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0004a0001c0001t0016g0008a0001c0001t0016g0174others(2): Show | 6 | 346 | 0.0173 | 24 | c.*88 others(32): Show |
IRAK1BP1 | ENSG00000146243.14 | transcript | ENST00000369940.7 | protein_coding | 4/4 | 112 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| IRAK1BP1_chr6_78862551_78908102 | 78898419 | T | TATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0008 | 1 | 346 | 0.0029 | 24 | c.*10 others(33): Show |
IRAK1BP1 | ENSG00000146243.14 | transcript | ENST00000369940.7 | protein_coding | 4/4 | 109 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
| IRAK3_chr12_66184214_66259622 | 66215786 | G | GCACGTGC others(17): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18971.hp2 NA18972.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0310a0001c0001t0002g0041a0001c0001t0003g0073others(2): Show | 5 | 346 | 0.0145 | 24 | c.589 others(41): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| IRAK3_chr12_66184214_66259622 | 66215788 | A | AAGTGCAC others(17): Show |
intron_variant | MODIFIER | HG02723.hp1 NA19043.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0023a0002c0003t0005 | a0002c0002t0023g0025a0002c0003t0005g0030 | 2 | 346 | 0.0058 | 24 | c.589 others(41): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 5/11 | chr12 | TogoVar | ||||||
| IRAK3_chr12_66184214_66259622 | 66215788 | A | ACGTGCAC others(17): Show |
intron_variant | MODIFIER | NA18522.hp1 NA19074.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0095a0003c0004t0015 | a0001c0001t0095g0319a0003c0004t0015g0097 | 2 | 346 | 0.0058 | 24 | c.589 others(41): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| IREB2_chr15_78433216_78506453 | 78434342 | G | GCATGTGT others(17): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0172 | 1 | 420 | 0.0024 | 24 | c.-39 others(35): Show |
IREB2 | ENSG00000136381.13 | transcript | ENST00000258886.13 | protein_coding | 3873 | chr15 | TogoVar | ||||||
| IRF1_chr5_132476609_132495773 | 132485828 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0091 | 1 | 436 | 0.0023 | 24 | c.668 others(39): Show |
IRF1 | ENSG00000125347.15 | transcript | ENST00000245414.9 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| IRF3_chr19_49654572_49670857 | 49659984 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02698.hp2 HG02896.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0045a0002c0001t0002g0052 | 4 | 400 | 0.0100 | 24 | c.109 others(41): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
| IRF3_chr19_49654572_49670857 | 49659984 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18948.hp1 NA18967.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0032 | 3 | 400 | 0.0075 | 24 | c.109 others(41): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
| IRF6_chr1_209780617_209811142 | 209806757 | C | CTTTTTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 NA18966.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0019a0001c0001t0001g0096 | 3 | 428 | 0.0070 | 24 | c.-88 others(33): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 616 | chr1 | TogoVar | ||||||
| IRF8_chr16_85894162_85927606 | 85904812 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02145.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0069a0001c0001t0004g0220a0001c0001t0004g0238 | 3 | 432 | 0.0069 | 24 | c.174 others(41): Show |
IRF8 | ENSG00000140968.12 | transcript | ENST00000268638.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0008 | 1 | 412 | 0.0024 | 24 | c.*48 others(35): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | ||||||
| IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0002 | a0001c0002t0002g0003a0001c0004t0002g0008 | 4 | 412 | 0.0097 | 24 | c.*48 others(35): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | ||||||
| IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0007 | 1 | 412 | 0.0024 | 24 | c.*48 others(35): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | ||||||
| IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | NA18979.hp2 NA19060.hp1 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001 | 2 | 412 | 0.0049 | 24 | c.*48 others(35): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | ||||||
| IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 NA19074.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001 | 2 | 412 | 0.0049 | 24 | c.*48 others(35): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | ||||||
| IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0022 | 1 | 412 | 0.0024 | 24 | c.*48 others(35): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | ||||||
| IRS1_chr2_226726312_226804820 | 226728076 | G | GGTGTGTG others(17): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG02615.hp1 HG03098.hp2 others(3): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0044a0001c0002t0035a0001c0002t0047others(2): Show | a0001c0001t0044g0184a0001c0002t0035g0062a0001c0002t0047g0209others(3): Show | 6 | 278 | 0.0216 | 24 | c.*81 others(35): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 3235 | chr2 | TogoVar | ||||||
| IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0093 | 1 | 278 | 0.0036 | 24 | c.*21 others(43): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18939.hp2 |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0011a0009c0014t0001 | a0001c0001t0011g0139a0009c0014t0001g0098 | 2 | 278 | 0.0072 | 24 | c.*21 others(43): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0004 | a0002c0004t0006 | a0002c0004t0006g0088 | 1 | 278 | 0.0036 | 24 | c.*21 others(43): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| IRX2_chr5_2741165_2756677 | 2743535 | C | CGGAGCCG others(17): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00642.hp2 others(42): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0002g0004a0001c0001t0002g0017others(13): Show | 45 | 436 | 0.1032 | 24 | c.*40 others(35): Show |
IRX2 | ENSG00000170561.13 | transcript | ENST00000302057.6 | protein_coding | 2629 | chr5 | TogoVar | ||||||
| IRX5_chr16_54925865_54939485 | 54928387 | C | CGGGGGCG others(17): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 NA19005.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0010a0003c0004t0001 | a0002c0002t0010g0001a0003c0004t0001g0001 | 2 | 390 | 0.0051 | 24 | c.-28 others(35): Show |
IRX5 | ENSG00000176842.16 | transcript | ENST00000394636.9 | protein_coding | 2477 | chr16 | TogoVar | ||||||
| IRX6_chr16_55319203_55335756 | 55325479 | T | TAAGGAAG others(17): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19055.hp1 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0041 | 2 | 448 | 0.0045 | 24 | c.45+ others(37): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| IRX6_chr16_55319203_55335756 | 55325487 | G | GAAAGAAA others(17): Show |
intron_variant | MODIFIER | NA18962.hp1 NA19012.hp1 NA19075.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0069a0002c0002t0001g0246 | 3 | 448 | 0.0067 | 24 | c.45+ others(37): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| IRX6_chr16_55319203_55335756 | 55325530 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 448 | 0.0022 | 24 | c.45+ others(37): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| IRX6_chr16_55319203_55335756 | 55325530 | G | GGAAGGAA others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0009 | a0009c0020 | a0009c0020t0018 | a0009c0020t0018g0083 | 1 | 448 | 0.0022 | 24 | c.45+ others(37): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |