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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQCE_chr7_2553979_2619728 | 2611110 | T | TGGCTGGG others(18): Show |
3_prime_UTR_variant | MODIFIER | HG02027.hp1 HG02280.hp2 HG02717.hp1 others(12): Show |
a0001a0004a0007others(1): Show | a0001c0001a0004c0008a0007c0012others(2): Show | a0001c0001t0017a0001c0001t0059a0001c0001t0060others(6): Show | a0001c0001t0017g0083a0001c0001t0017g0140a0001c0001t0017g0144others(12): Show | 15 | 416 | 0.0361 | 25 | c.*95 others(34): Show |
IQCE | ENSG00000106012.19 | transcript | ENST00000402050.7 | protein_coding | 22/22 | 982 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
IQCG_chr3_197884077_197964991 | 197941383 | C | CCCTCCCT others(18): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0277 | 1 | 280 | 0.0036 | 25 | c.282 others(42): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 4/11 | chr3 | TogoVar | ||||||
IQCH_chr15_67249786_67506804 | 67358207 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18956.hp2 NA18978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0242a0001c0001t0001g0243others(1): Show | 4 | 276 | 0.0145 | 25 | c.714 others(40): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQCH_chr15_67249786_67506804 | 67489519 | G | GGGTGAGG others(18): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00438.hp2 others(218): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(218): Show | 221 | 276 | 0.8007 | 25 | c.280 others(42): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQCH_chr15_67249786_67506804 | 67489519 | G | GGGTGATG others(18): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 276 | 0.0036 | 25 | c.280 others(42): Show |
IQCH | ENSG00000103599.20 | transcript | ENST00000335894.9 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
IQCK_chr16_19713271_19863467 | 19861087 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 244 | 0.0041 | 25 | c.*45 others(36): Show |
IQCK | ENSG00000174628.17 | transcript | ENST00000695302.1 | protein_coding | 2621 | chr16 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149443663 | A | AGAAAGGA others(18): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02976.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0101a0001c0001t0001g0122a0001c0001t0001g0190others(2): Show | 5 | 252 | 0.0198 | 25 | c.122 others(46): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149443751 | A | AAGGAAAG others(18): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0193 | 1 | 252 | 0.0040 | 25 | c.122 others(46): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149481696 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0178a0001c0004t0001g0179 | 2 | 252 | 0.0079 | 25 | c.122 others(46): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 12/13 | chr4 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76644295 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02280.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0006 | a0001c0002t0004g0219a0001c0002t0006g0046 | 2 | 222 | 0.0090 | 25 | c.209 others(44): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
IQSEC2_chrX_53227876_53326350 | 53311121 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0140a0001c0002t0001g0015a0001c0003t0001g0145 | 3 | 213 | 0.0141 | 25 | c.707 others(42): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 1/14 | chrX | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680404 | G | GGAAGGAA others(18): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0008 | a0008c0017 | a0008c0017t0004 | a0008c0017t0004g0226 | 1 | 278 | 0.0036 | 25 | c.67+ others(42): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
IRAG1_chr11_10568095_10698755 | 10680404 | G | GGAAGGAA others(18): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02647.hp1 HG03516.hp2 others(1): Show |
a0002a0011 | a0002c0003a0002c0013a0002c0016others(1): Show | a0002c0003t0003a0002c0013t0004a0002c0016t0003others(1): Show | a0002c0003t0003g0012a0002c0013t0004g0018a0002c0016t0003g0032others(1): Show | 4 | 278 | 0.0144 | 25 | c.67+ others(42): Show |
IRAG1 | ENSG00000072952.21 | transcript | ENST00000423302.7 | protein_coding | 1/20 | chr11 | TogoVar | ||||||
IRAG2_chr12_25047706_25113335 | 25106647 | T | TTTGTATA others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0062a0003c0003t0001g0170 | 2 | 344 | 0.0058 | 25 | c.114 others(42): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IRAG2_chr12_25047706_25113335 | 25108825 | T | TAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02109.hp1 HG03453.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0148a0002c0002t0001g0001a0002c0002t0001g0027 | 3 | 344 | 0.0087 | 25 | c.*76 others(34): Show |
IRAG2 | ENSG00000118308.16 | transcript | ENST00000556887.6 | protein_coding | 491 | chr12 | TogoVar | ||||||
IRAK3_chr12_66184214_66259622 | 66214539 | A | AAAAACAA others(18): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0076a0001c0001t0007g0078 | 2 | 346 | 0.0058 | 25 | c.589 others(42): Show |
IRAK3 | ENSG00000090376.11 | transcript | ENST00000261233.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
IRF1_chr5_132476609_132495773 | 132485849 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03209.hp2 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0036 | a0001c0002t0010g0089a0001c0002t0036g0084 | 2 | 436 | 0.0046 | 25 | c.668 others(40): Show |
IRF1 | ENSG00000125347.15 | transcript | ENST00000245414.9 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
IRF2BP2_chr1_234599269_234615178 | 234600217 | C | CCCGTCCC others(18): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02717.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004a0001c0006 | a0001c0003t0002a0001c0004t0023a0001c0004t0031others(1): Show | a0001c0003t0002g0003a0001c0004t0023g0024a0001c0004t0031g0037others(1): Show | 5 | 420 | 0.0119 | 25 | c.*69 others(36): Show |
IRF2BP2 | ENSG00000168264.11 | transcript | ENST00000366609.4 | protein_coding | 4051 | chr1 | TogoVar | ||||||
IRF3_chr19_49654572_49670857 | 49660027 | A | ACACACAC others(18): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0157 | 1 | 400 | 0.0025 | 25 | c.109 others(42): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
IRF3_chr19_49654572_49670857 | 49660028 | C | CACACACA others(18): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0133 | 1 | 400 | 0.0025 | 25 | c.109 others(42): Show |
IRF3 | ENSG00000126456.16 | transcript | ENST00000377139.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
IRF6_chr1_209780617_209811142 | 209806757 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 HG02280.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0012 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0019others(1): Show | 5 | 428 | 0.0117 | 25 | c.-88 others(34): Show |
IRF6 | ENSG00000117595.13 | transcript | ENST00000367021.8 | protein_coding | 616 | chr1 | TogoVar | ||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0169a0001c0001t0001g0183a0001c0001t0003g0168others(4): Show | 7 | 278 | 0.0252 | 25 | c.*21 others(44): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
IRS1_chr2_226726312_226804820 | 226766163 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00741.hp2 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0051 | a0001c0001t0001g0194a0001c0001t0051g0148 | 2 | 278 | 0.0072 | 25 | c.*21 others(44): Show |
IRS1 | ENSG00000169047.6 | transcript | ENST00000305123.6 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
ISM1_chr20_13216274_13305651 | 13268114 | G | GTCTTCTC others(18): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(30): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0077a0001c0001t0001g0119a0001c0001t0001g0126others(30): Show | 33 | 396 | 0.0833 | 25 | c.139 others(42): 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(18): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00741.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0074a0001c0001t0001g0076a0001c0001t0001g0086others(67): Show | 71 | 396 | 0.1793 | 25 | c.378 others(42): Show |
ISM1 | ENSG00000101230.6 | transcript | ENST00000262487.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITFG1_chr16_47149391_47466063 | 47376964 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 110 | 0.0091 | 25 | c.656 others(42): Show |
ITFG1 | ENSG00000129636.13 | transcript | ENST00000320640.11 | protein_coding | 6/17 | chr16 | TogoVar | ||||||
ITGA11_chr15_68291532_68437163 | 68397219 | T | TATATGTT others(18): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0005 | a0001c0005t0109 | a0001c0005t0109g0127 | 1 | 242 | 0.0041 | 25 | c.164 others(42): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | ||||||
ITGA1_chr5_52782916_52964209 | 52872575 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 NA19001.hp2 |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0022a0002c0007t0002 | a0001c0003t0022g0004a0002c0007t0002g0099 | 3 | 322 | 0.0093 | 25 | c.624 others(42): Show |
ITGA1 | ENSG00000213949.10 | transcript | ENST00000282588.7 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITGA2_chr5_52984352_53099779 | 53094196 | A | AATTATAT others(18): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(141): Show |
a0001a0003a0004others(4): Show | a0001c0002a0001c0014a0001c0021others(8): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(25): Show | a0001c0002t0003g0002a0001c0002t0003g0031a0001c0002t0003g0063others(132): Show | 144 | 398 | 0.3618 | 25 | c.*35 others(36): Show |
ITGA2 | ENSG00000164171.11 | transcript | ENST00000296585.10 | protein_coding | 30/30 | 3600 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
ITGAE_chr17_3709628_3806188 | 3711370 | C | CTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 NA18992.hp1 NA19012.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0121a0002c0002t0001g0122a0002c0002t0001g0123others(1): Show | 4 | 302 | 0.0133 | 25 | c.*34 others(36): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 3257 | chr17 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30493245 | C | CATTTTAT others(18): Show |
intron_variant | MODIFIER | NA18522.hp2 NA20129.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0307a0002c0003t0001g0315 | 2 | 318 | 0.0063 | 25 | c.121 others(42): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 11/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAL_chr16_30467742_30528185 | 30499734 | T | TATGTATA others(18): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0267 | 1 | 318 | 0.0031 | 25 | c.214 others(42): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 17/30 | chr16 | TogoVar | ||||||
ITGAL_chr16_30467742_30528185 | 30523659 | G | GAAAACCC others(18): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG02896.hp2 HG02897.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0016 | a0001c0001t0003a0001c0017t0006a0002c0016t0006 | a0001c0001t0003g0230a0001c0001t0003g0231a0001c0001t0003g0257others(3): Show | 6 | 318 | 0.0189 | 25 | c.*19 others(36): Show |
ITGAL | ENSG00000005844.19 | transcript | ENST00000356798.11 | protein_coding | 475 | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31270137 | G | GCTTTCCT others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02135.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181a0001c0001t0001g0216 | 2 | 244 | 0.0082 | 25 | c.428 others(40): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01169.hp1 HG01943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0179a0001c0001t0001g0191a0001c0001t0001g0210others(1): Show | 4 | 308 | 0.0130 | 25 | c.243 others(42): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18949.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0205 | 2 | 308 | 0.0065 | 25 | c.243 others(42): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 308 | 0.0033 | 25 | c.243 others(42): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ITGB6_chr2_160094671_160205272 | 160170114 | A | AATATGTT others(18): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0116a0001c0001t0014g0302 | 2 | 358 | 0.0056 | 25 | c.922 others(40): Show |
ITGB6 | ENSG00000115221.12 | transcript | ENST00000283249.7 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101588297 | T | TTGGTGTG others(18): Show |
intron_variant | MODIFIER | HG03130.hp1 HG06807.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0007a0001c0001t0002g0031a0001c0001t0006g0087 | 3 | 306 | 0.0098 | 25 | c.868 others(42): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01993.hp1 HG02040.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0171a0001c0001t0001g0202a0001c0002t0001g0006others(6): Show | 9 | 306 | 0.0294 | 25 | c.101 others(44): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITK_chr5_157175840_157260185 | 157233964 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 348 | 0.0029 | 25 | c.768 others(42): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | ||||||
ITLN2_chr1_160940025_160959809 | 160942871 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0044 | 1 | 480 | 0.0021 | 25 | c.*22 others(36): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 2153 | chr1 | TogoVar | ||||||
ITPKB_chr1_226626690_226744282 | 226740869 | A | AAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02630.hp1 others(1): Show |
a0003a0012 | a0003c0003a0012c0014 | a0003c0003t0007a0003c0003t0016a0012c0014t0011others(1): Show | a0003c0003t0007g0166a0003c0003t0016g0164a0012c0014t0011g0227others(1): Show | 4 | 350 | 0.0114 | 25 | c.-20 others(36): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 1588 | chr1 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4610974 | C | CTTCCCCC others(18): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02145.hp1 HG02523.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0002t0015a0001c0003t0001others(12): Show | a0001c0001t0002g0005a0001c0002t0015g0130a0001c0003t0001g0056others(13): Show | 16 | 176 | 0.0909 | 25 | c.164 others(44): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | chr3 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26462154 | C | CTTTTGTT others(18): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp1 HG02965.hp1 others(3): Show |
a0001a0002a0003 | a0001c0016a0001c0034a0001c0037others(3): Show | a0001c0016t0042a0001c0034t0004a0001c0037t0009others(3): Show | a0001c0016t0042g0107a0001c0034t0004g0050a0001c0037t0009g0052others(3): Show | 6 | 142 | 0.0423 | 25 | c.634 others(46): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 45/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26516275 | G | GGGAAAGG others(18): Show |
intron_variant | MODIFIER | NA18960.hp1 NA20805.hp2 |
a0001 | a0001c0012 | a0001c0012t0005a0001c0012t0039 | a0001c0012t0005g0023a0001c0012t0039g0079 | 2 | 142 | 0.0141 | 25 | c.507 others(46): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26516285 | G | GGGAAAGG others(18): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0017 | a0002c0017t0018 | a0002c0017t0018g0109 | 1 | 142 | 0.0070 | 25 | c.507 others(46): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26516285 | G | GGGAAGGG others(18): Show |
intron_variant | MODIFIER | HG02965.hp2 NA18906.hp2 |
a0002 | a0002c0009 | a0002c0009t0001a0002c0009t0041 | a0002c0009t0001g0029a0002c0009t0041g0110 | 2 | 142 | 0.0141 | 25 | c.507 others(46): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 37/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26565843 | A | AGAGGAGA others(18): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02735.hp1 HG03017.hp1 |
a0001 | a0001c0007a0001c0028 | a0001c0007t0005a0001c0028t0001a0001c0028t0010 | a0001c0007t0005g0041a0001c0028t0001g0010a0001c0028t0010g0125 | 3 | 142 | 0.0211 | 25 | c.463 others(44): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26565973 | G | GGAGGAGA others(18): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0005 | a0001c0005t0015 | a0001c0005t0015g0051 | 1 | 142 | 0.0070 | 25 | c.463 others(44): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar |