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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQCG_chr3_197884077_197964991 | 197933067 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03139.hp2 HG03225.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0042 a0001c0004t0001g0053 a0001c0004t0001g0054 |
3 | 280 | 0.0107 | 30 | c.516 others(45): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 5/11 | chr3 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159092699 | A | AACACACA others(23): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 252 | 0.0040 | 30 | c.9+2 others(45): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159200030 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0080 a0001c0001t0010g0026 |
2 | 252 | 0.0079 | 30 | c.10- others(47): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159200104 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01361.hp1 HG02015.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0115 a0001c0001t0001g0120 a0001c0001t0002g0039 others(9): Show |
12 | 252 | 0.0476 | 30 | c.10- others(47): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQCK_chr16_19713271_19863467 | 19798421 | A | AAAAAATA others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 244 | 0.0041 | 30 | c.690 others(47): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149368934 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 252 | 0.0040 | 30 | c.139 others(51): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149443663 | A | AGAAAGGA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0019 a0001c0001t0001g0103 |
3 | 252 | 0.0119 | 30 | c.122 others(51): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149626392 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02145.hp2 HG02735.hp2 others(7): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0001c0001t0002a0007c0008t0002 | a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0060 others(7): Show |
10 | 252 | 0.0397 | 30 | c.566 others(47): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76429582 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0027 | a0027c0050 | a0027c0050t0007 | a0027c0050t0007g0029 | 1 | 222 | 0.0045 | 30 | c.46+ others(47): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76610076 | C | CTCTCTCT others(23): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0036 | a0003c0036t0006 | a0003c0036t0006g0017 | 1 | 222 | 0.0045 | 30 | c.135 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18957.hp1 |
a0003a0013 | a0003c0015a0013c0019 | a0003c0015t0002a0013c0019t0001 | a0003c0015t0002g0144 a0013c0019t0001g0217 |
2 | 222 | 0.0090 | 30 | c.135 others(47): 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(23): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02083.hp1 HG03704.hp2 |
a0003a0004 | a0003c0004a0004c0005a0004c0007 | a0003c0004t0005a0004c0005t0001a0004c0007t0006 | a0003c0004t0005g0018 a0004c0005t0001g0135 a0004c0007t0006g0038 |
3 | 222 | 0.0135 | 30 | c.135 others(47): 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(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0185 | 1 | 222 | 0.0045 | 30 | c.209 others(49): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76667877 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0097 | 1 | 222 | 0.0045 | 30 | c.268 others(47): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 22/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10584548 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0093 a0003c0004t0006g0123 |
2 | 278 | 0.0072 | 30 | c.224 others(49): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 18/20 | chr11 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10622876 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG03225.hp2 others(3): Show |
a0001a0008a0009others(1): Show | a0001c0002a0008c0017a0009c0019others(1): Show | a0001c0002t0002a0008c0017t0004a0009c0019t0001others(1): Show | a0001c0002t0002g0140 a0001c0002t0002g0162 a0008c0017t0004g0229 others(3): Show |
6 | 278 | 0.0216 | 30 | c.144 others(47): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 10/20 | chr11 | TogoVar | |||||||
IRAG1_chr11_10568095_10698755 | 10680404 | G | GGAAGGAA others(23): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011 | 1 | 278 | 0.0036 | 30 | c.67+ others(47): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
IRAG2_chr12_25047706_25113335 | 25108825 | T | TAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062 | 1 | 344 | 0.0029 | 30 | c.*76 others(39): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 491 | chr12 | TogoVar | |||||||
IRAK3_chr12_66184214_66259622 | 66215785 | T | TGCACGTG others(23): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 346 | 0.0029 | 30 | c.589 others(47): 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(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0022 | a0002c0002t0022g0329 | 1 | 346 | 0.0029 | 30 | c.589 others(47): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 5/11 | chr12 | TogoVar | |||||||
IRAK3_chr12_66184214_66259622 | 66215788 | A | ACGTGCAC others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0072a0001c0007t0008 | a0001c0001t0072g0015 a0001c0007t0008g0262 |
2 | 346 | 0.0058 | 30 | c.589 others(47): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRF1_chr5_132476609_132495773 | 132485828 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0059 | 1 | 436 | 0.0023 | 30 | c.668 others(45): Show |
IRF1 | ENSG00000125347.15 | transcript | ENST00000245414.9 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234600201 | C | CCCCGCCC others(23): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0017 | 1 | 420 | 0.0024 | 30 | c.*69 others(41): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4067 | chr1 | TogoVar | |||||||
IRF2BP2_chr1_234599269_234615178 | 234600217 | C | CCCGTCCC others(23): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01070.hp2 HG02683.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0012 | 5 | 420 | 0.0119 | 30 | c.*69 others(41): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4051 | chr1 | TogoVar | |||||||
IRF2_chr4_184382729_184479550 | 184452770 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 376 | 0.0027 | 30 | c.-7+ others(47): Show |
IRF2 | ENSG00000168310.12 | transcript | ENST00000393593.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
IRF3_chr19_49654572_49670857 | 49659984 | T | TACACACA others(23): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0015 | a0002c0015t0004 | a0002c0015t0004g0124 | 1 | 400 | 0.0025 | 30 | c.109 others(47): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | |||||||
IRF6_chr1_209780617_209811142 | 209806757 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 30 | c.-88 others(39): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 616 | chr1 | TogoVar | |||||||
IRF7_chr11_607555_620950 | 613610 | A | AGCTGTGA others(23): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0042 | 1 | 407 | 0.0025 | 30 | c.848 others(43): Show |
IRF7 | ENSG00000185507.21 | transcript | ENST00000525445.6 | protein_coding | 8/10 | chr11 | TogoVar | |||||||
IRF8_chr16_85894162_85927606 | 85904812 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0192 | 1 | 432 | 0.0023 | 30 | c.174 others(47): 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(23): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0028 | 1 | 412 | 0.0024 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 2 | 412 | 0.0049 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 4 | 412 | 0.0097 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 NA18965.hp1 NA18982.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001 | 4 | 412 | 0.0097 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGC_chr19_43711076_43725021 | 43724830 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA19081.hp1 NA19081.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0001 | 2 | 412 | 0.0049 | 30 | c.*48 others(41): Show |
IRGC | ENSG00000124449.7 | transcript | ENST00000244314.6 | protein_coding | 4810 | chr19 | TogoVar | |||||||
IRGQ_chr19_43579367_43601134 | 43599131 | G | GTGCCCCC others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 426 | 0.0024 | 30 | c.-31 others(41): Show |
IRGQ | ENSG00000167378.10 | transcript | ENST00000422989.6 | protein_coding | 2998 | chr19 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226728076 | G | GGTGTGTG others(23): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(83): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(81): Show |
86 | 278 | 0.3094 | 30 | c.*81 others(41): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 3235 | chr2 | TogoVar | |||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 | 1 | 278 | 0.0036 | 30 | c.*21 others(49): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
IRX5_chr16_54925865_54939485 | 54928376 | C | CGGGGCGG others(23): Show |
upstream_gene_variant | MODIFIER | NA18941.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 390 | 0.0026 | 30 | c.-28 others(41): Show |
IRX5 | ENSG00000176842.16 | transcript | ENST00000394636.9 | protein_coding | 2488 | chr16 | TogoVar | |||||||
IRX6_chr16_55319203_55335756 | 55324799 | A | AACACACT others(23): Show |
5_prime_UTR_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0237 | 1 | 448 | 0.0022 | 30 | c.-29 others(39): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/6 | 292 | chr16 | TogoVar | ||||||
IRX6_chr16_55319203_55335756 | 55325531 | G | GAAGGAAG others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0090 | 1 | 448 | 0.0022 | 30 | c.45+ others(43): Show |
IRX6 | ENSG00000159387.8 | transcript | ENST00000290552.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13221212 | C | CCCTCCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0066 | 1 | 396 | 0.0025 | 30 | c.-56 others(39): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 61 | chr20 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13221212 | C | CCCTCCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 396 | 0.0025 | 30 | c.-56 others(39): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 61 | chr20 | TogoVar | |||||||
ISM1_chr20_13216274_13305651 | 13268114 | G | GTCTTCTC others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02055.hp1 HG02129.hp2 others(7): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0073 a0001c0001t0001g0118 a0001c0001t0002g0104 others(7): Show |
10 | 396 | 0.0253 | 30 | c.139 others(47): 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(23): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00544.hp2 others(86): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 others(83): Show |
89 | 396 | 0.2248 | 30 | c.378 others(47): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITCH_chr20_34358273_34516773 | 34462307 | A | AGTCTTAG others(23): Show |
intron_variant | MODIFIER | HG02559.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0292 a0001c0001t0009g0293 |
2 | 294 | 0.0068 | 30 | c.142 others(47): Show |
ITCH | ENSG00000078747.17 | transcript | ENST00000374864.10 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ITFG1_chr16_47149391_47466063 | 47315768 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0003g0068 others(2): Show |
5 | 110 | 0.0455 | 30 | c.803 others(47): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 8/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47396522 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02622.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001 | a0001c0002t0002g0088 a0001c0004t0001g0071 |
2 | 110 | 0.0182 | 30 | c.656 others(49): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITFG1_chr16_47149391_47466063 | 47409404 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 110 | 0.0091 | 30 | c.655 others(49): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | |||||||
ITGA1_chr5_52782916_52964209 | 52962755 | C | CACATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18988.hp1 | a0003 | a0003c0005 | a0003c0005t0081 | a0003c0005t0081g0146 | 1 | 322 | 0.0031 | 30 | c.*10 others(43): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 3547 | chr5 | TogoVar | |||||||
ITGA2B_chr17_44367181_44394649 | 44368119 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 354 | 0.0028 | 30 | c.*42 others(41): Show |
ITGA2B | ENSG00000005961.19 | transcript | ENST00000262407.6 | protein_coding | 4061 | chr17 | TogoVar |