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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IL36B_chr2_113017089_113057867 | 113017679 | A | AGAAGAAG others(8): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01106.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0207 a0001c0001t0001g0225 others(7): Show |
10 | 404 | 0.0248 | 15 | c.*49 others(26): Show |
IL36B | ENSG00000136696.11 | transcript | ENST00000259213.9 | protein_coding | 4409 | chr2 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1355231 | G | GGGGGAGG others(8): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0015 | a0015c0013 | a0015c0013t0001 | a0015c0013t0001g0011 | 1 | 115 | 0.0087 | 15 | c.617 others(30): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1355237 | G | GGAGGGTG others(8): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0044 | 1 | 115 | 0.0087 | 15 | c.617 others(30): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1359423 | T | TCCCGATC others(8): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 115 | 0.0087 | 15 | c.759 others(30): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | chrX | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1360972 | T | TCTCTCTC others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0008 | a0008c0018 | a0008c0018t0003 | a0008c0018t0003g0112 | 1 | 115 | 0.0087 | 15 | c.759 others(32): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1367408 | T | TGAGCCGG others(8): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | 15 | c.874 others(32): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1380522 | G | GGGGGAGG others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 115 | 0.0087 | 15 | c.981 others(30): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL4R_chr16_27308974_27369778 | 27310395 | C | CACAAAAC others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG02040.hp2 others(12): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0002a0004c0004t0003others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0107 others(12): Show |
15 | 332 | 0.0452 | 15 | c.-37 others(26): Show |
IL4R | ENSG00000077238.14 | transcript | ENST00000395762.7 | protein_coding | 3578 | chr16 | TogoVar | |||||||
IL4R_chr16_27308974_27369778 | 27328205 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03098.hp1 |
a0003a0009a0027 | a0003c0003a0009c0037a0027c0036 | a0003c0003t0002a0009c0037t0002a0027c0036t0015 | a0003c0003t0002g0044 a0009c0037t0002g0050 a0027c0036t0015g0051 |
3 | 332 | 0.0090 | 15 | c.-15 others(34): Show |
IL4R | ENSG00000077238.14 | transcript | ENST00000395762.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
IL5RA_chr3_3061324_3115374 | 3096289 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0266 | 1 | 454 | 0.0022 | 15 | c.710 others(30): Show |
IL5RA | ENSG00000091181.20 | transcript | ENST00000446632.7 | protein_coding | 7/11 | chr3 | TogoVar | |||||||
IL5RA_chr3_3061324_3115374 | 3099658 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02717.hp2 others(7): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0011a0001c0001t0076a0001c0001t0129others(6): Show | a0001c0001t0011g0002 a0001c0001t0076g0072 a0001c0001t0129g0205 others(6): Show |
10 | 454 | 0.0220 | 15 | c.368 others(32): Show |
IL5RA | ENSG00000091181.20 | transcript | ENST00000446632.7 | protein_coding | 5/11 | chr3 | TogoVar | |||||||
IL6R_chr1_154400343_154474450 | 154447442 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02293.hp2 HG02717.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0011 | a0002c0002t0001g0039 a0002c0002t0001g0044 a0002c0002t0001g0048 others(6): Show |
9 | 346 | 0.0260 | 15 | c.950 others(30): Show |
IL6R | ENSG00000160712.13 | transcript | ENST00000368485.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
IL6R_chr1_154400343_154474450 | 154447686 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0005a0001c0003t0002a0001c0003t0004others(4): Show | a0001c0001t0005g0308 a0001c0003t0002g0109 a0001c0003t0002g0122 others(27): Show |
31 | 346 | 0.0896 | 15 | c.950 others(30): Show |
IL6R | ENSG00000160712.13 | transcript | ENST00000368485.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL6R_chr1_154400343_154474450 | 154450143 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 346 | 0.0029 | 15 | c.106 others(32): Show |
IL6R | ENSG00000160712.13 | transcript | ENST00000368485.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
ILDR2_chr1_166903187_166980540 | 166973612 | T | TCCCCCCC others(8): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0278 | 1 | 342 | 0.0029 | 15 | c.46+ others(30): Show |
ILDR2 | ENSG00000143195.13 | transcript | ENST00000271417.8 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
ILF3_chr19_10649346_10697400 | 10656798 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0023 a0001c0002t0005g0024 |
2 | 346 | 0.0058 | 15 | c.-91 others(32): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ILF3_chr19_10649346_10697400 | 10672351 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 NA18944.hp1 NA18952.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0058 a0001c0002t0002g0059 a0001c0002t0002g0060 others(3): Show |
6 | 346 | 0.0173 | 15 | c.411 others(30): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ILF3_chr19_10649346_10697400 | 10682492 | C | CATGGCTC others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0022 | a0001c0002t0018g0328 a0001c0002t0022g0327 |
2 | 346 | 0.0058 | 15 | c.138 others(30): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ILRUN_chr6_34582288_34701767 | 34637843 | T | TTGCTGCT others(8): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 316 | 0.0032 | 15 | c.511 others(32): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34637864 | C | CTGCTGCT others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01074.hp2 HG01255.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0241 a0001c0001t0003g0207 others(14): Show |
17 | 316 | 0.0538 | 15 | c.511 others(32): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34637864 | C | CTGCTGTT others(8): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03516.hp2 HG04115.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0024 a0001c0001t0005g0095 a0001c0001t0008g0296 others(1): Show |
4 | 316 | 0.0127 | 15 | c.511 others(32): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
ILRUN_chr6_34582288_34701767 | 34682021 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 316 | 0.0032 | 15 | c.158 others(34): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
IMMP1L_chr11_31427401_31514622 | 31499366 | A | AAAAACAA others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0104 others(32): Show |
38 | 298 | 0.1275 | 15 | c.-30 others(34): Show |
IMMP1L | ENSG00000148950.11 | transcript | ENST00000532287.6 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 111195827 | T | TATTTCAT others(8): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 84 | 0.0119 | 15 | c.240 others(36): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
IMMP2L_chr7_110657644_111567492 | 111538184 | T | TACTTAAG others(8): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006 | a0001c0002t0002g0066 a0001c0002t0004g0044 a0001c0002t0004g0058 others(1): Show |
4 | 84 | 0.0476 | 15 | c.-2- others(32): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
IMMT_chr2_86138936_86200462 | 86152440 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 a0001c0001t0001g0206 |
2 | 378 | 0.0053 | 15 | c.117 others(32): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 11/14 | chr2 | TogoVar | |||||||
IMMT_chr2_86138936_86200462 | 86164689 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03516.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 a0001c0001t0001g0265 |
2 | 378 | 0.0053 | 15 | c.792 others(32): Show |
IMMT | ENSG00000132305.22 | transcript | ENST00000410111.8 | protein_coding | 7/14 | chr2 | TogoVar | |||||||
IMPA1_chr8_81651914_81691325 | 81684673 | A | ATATACTA others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG02602.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 a0001c0001t0004g0063 a0001c0001t0004g0064 others(2): Show |
6 | 380 | 0.0158 | 15 | c.-25 others(32): Show |
IMPA1 | ENSG00000133731.10 | transcript | ENST00000256108.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
IMPA2_chr18_11976507_12035877 | 11978211 | C | CTTTCTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02818.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0014 a0001c0001t0001g0296 a0001c0001t0001g0324 others(3): Show |
6 | 364 | 0.0165 | 15 | c.-34 others(26): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 3295 | chr18 | TogoVar | |||||||
IMPA2_chr18_11976507_12035877 | 11978211 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 HG03471.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0091 a0001c0002t0007g0233 |
2 | 364 | 0.0055 | 15 | c.-34 others(26): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 3295 | chr18 | TogoVar | |||||||
IMPA2_chr18_11976507_12035877 | 12007628 | C | CTTCTTCT others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 364 | 0.0028 | 15 | c.231 others(32): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
IMPA2_chr18_11976507_12035877 | 12022528 | A | AAATATAT others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00735.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0089 others(25): Show |
28 | 364 | 0.0769 | 15 | c.491 others(32): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
IMPDH1_chr7_128387277_128414982 | 128412944 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02165.hp1 NA19089.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0010 | 2 | 414 | 0.0048 | 15 | c.-30 others(26): Show |
IMPDH1 | ENSG00000106348.19 | transcript | ENST00000338791.11 | protein_coding | 2963 | chr7 | TogoVar | |||||||
IMPDH2_chr3_49019325_49034398 | 49034079 | T | TTTATTAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 |
4 | 304 | 0.0132 | 15 | c.-47 others(26): Show |
IMPDH2 | ENSG00000178035.13 | transcript | ENST00000326739.9 | protein_coding | 4682 | chr3 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75924706 | A | AATATATA others(8): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18995.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0193 a0004c0004t0001g0234 |
2 | 302 | 0.0066 | 15 | c.224 others(34): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75924706 | A | AATATATC others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp2 others(34): Show |
a0003a0006a0024 | a0003c0003a0006c0005a0024c0022 | a0003c0003t0001a0003c0003t0006a0003c0003t0008others(5): Show | a0003c0003t0001g0017 a0003c0003t0001g0023 a0003c0003t0001g0029 others(34): Show |
37 | 302 | 0.1225 | 15 | c.224 others(34): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 15/16 | chr6 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75938810 | T | TCAAAACA others(8): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 302 | 0.0033 | 15 | c.204 others(34): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 14/16 | chr6 | TogoVar | |||||||
IMPG1_chr6_75916114_76077662 | 75974401 | T | TTCCTTCC others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02965.hp1 HG03704.hp1 others(1): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0012a0003c0003t0001a0003c0003t0006others(1): Show | a0001c0001t0012g0206 a0003c0003t0001g0049 a0003c0003t0006g0006 others(1): Show |
4 | 302 | 0.0133 | 15 | c.129 others(36): Show |
IMPG1 | ENSG00000112706.12 | transcript | ENST00000369950.8 | protein_coding | 12/16 | chr6 | TogoVar | |||||||
IMPG2_chr3_101217546_101325575 | 101256145 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0323 | 1 | 360 | 0.0028 | 15 | c.115 others(34): Show |
IMPG2 | ENSG00000081148.12 | transcript | ENST00000193391.8 | protein_coding | 10/18 | chr3 | TogoVar | |||||||
INAVA_chr1_200889900_200920742 | 200915813 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0193 | 1 | 424 | 0.0024 | 15 | c.*21 others(26): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 72 | chr1 | TogoVar | |||||||
INAVA_chr1_200889900_200920742 | 200915813 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117 | 1 | 424 | 0.0024 | 15 | c.*21 others(26): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 72 | chr1 | TogoVar | |||||||
INAVA_chr1_200889900_200920742 | 200915814 | G | GTGTGTGT others(8): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0007 | 1 | 424 | 0.0024 | 15 | c.*21 others(26): Show |
INAVA | ENSG00000163362.11 | transcript | ENST00000413687.3 | protein_coding | 73 | chr1 | TogoVar | |||||||
INCENP_chr11_62119011_62158169 | 62146758 | A | AGCGGGAG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG01496.hp2 HG02486.hp1 HG02630.hp2 others(10): Show |
a0005 | a0005c0005 | a0005c0005t0001a0005c0005t0011 | a0005c0005t0001g0006 a0005c0005t0001g0034 a0005c0005t0001g0113 others(1): Show |
13 | 358 | 0.0363 | 15 | c.207 others(24): Show |
p.Arg others(28): Show |
INCENP | ENSG00000149503.13 | transcript | ENST00000394818.8 | protein_coding | 15/19 | 2258/4114 | 2094/2757 | 698/918 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
INCENP_chr11_62119011_62158169 | 62146777 | G | GGAGCAGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02273.hp2 NA18983.hp2 |
a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0004 a0015c0019t0001g0064 |
2 | 358 | 0.0056 | 15 | c.208 others(24): Show |
p.Glu others(28): Show |
INCENP | ENSG00000149503.13 | transcript | ENST00000394818.8 | protein_coding | 15/19 | 2254/4114 | 2090/2757 | 697/918 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
INCENP_chr11_62119011_62158169 | 62146777 | G | GGAGCAGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02258.hp1 HG02451.hp1 HG02572.hp1 others(2): Show |
a0008a0020 | a0008c0011a0020c0036 | a0008c0011t0001a0020c0036t0001 | a0008c0011t0001g0030 a0008c0011t0001g0031 a0020c0036t0001g0181 |
5 | 358 | 0.0140 | 15 | c.210 others(24): Show |
p.Arg others(28): Show |
INCENP | ENSG00000149503.13 | transcript | ENST00000394818.8 | protein_coding | 15/19 | 2288/4114 | 2124/2757 | 708/918 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
INCENP_chr11_62119011_62158169 | 62146807 | C | CGAGCAGG others(8): Show |
disruptive_inframe_insertion | MODERATE | HG02896.hp2 | a0022 | a0022c0046 | a0022c0046t0007 | a0022c0046t0007g0182 | 1 | 358 | 0.0028 | 15 | c.212 others(24): Show |
p.Arg others(28): Show |
INCENP | ENSG00000149503.13 | transcript | ENST00000394818.8 | protein_coding | 15/19 | 2303/4114 | 2139/2757 | 713/918 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
ING1_chr13_110708700_110728339 | 110719019 | T | TTTGTGTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0002g0019 others(3): Show |
7 | 438 | 0.0160 | 15 | c.137 others(30): Show |
ING1 | ENSG00000153487.13 | transcript | ENST00000333219.9 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ING1_chr13_110708700_110728339 | 110719049 | G | GTTGTGTT others(8): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 2 | 438 | 0.0046 | 15 | c.137 others(30): Show |
ING1 | ENSG00000153487.13 | transcript | ENST00000333219.9 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ING5_chr2_241697039_241734478 | 241732811 | G | GGTCACTC others(8): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 394 | 0.0025 | 15 | c.*77 others(26): Show |
ING5 | ENSG00000168395.16 | transcript | ENST00000313552.11 | protein_coding | 3334 | chr2 | TogoVar | |||||||
INHBA_chr7_41680114_41708090 | 41700841 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 374 | 0.0027 | 15 | c.-14 others(32): Show |
INHBA | ENSG00000122641.11 | transcript | ENST00000242208.5 | protein_coding | 1/2 | chr7 | TogoVar |