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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(958): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 258 | 0.0039 | 965 | c.113 others(984): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 432 | 0.0023 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 432 | 0.0023 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 432 | 0.0023 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | HG02683.hp2 HG04228.hp2 NA18959.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 a0001c0001t0002g0040 |
5 | 432 | 0.0116 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18946.hp2 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0020 | a0001c0001t0002g0015 a0001c0001t0006g0015 a0001c0001t0020g0015 |
4 | 432 | 0.0093 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(958): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0216 | 1 | 432 | 0.0023 | 965 | c.199 others(982): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 43919853 | T | TGTGGTTG others(958): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02451.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0019 a0002c0002t0001g0082 |
2 | 110 | 0.0182 | 965 | c.278 others(984): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 43919853 | T | TGTGGTTG others(958): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0110 |
2 | 110 | 0.0182 | 965 | c.278 others(984): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM117_chr12_43831081_44394758 | 43919853 | T | TGTGGTTG others(958): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02280.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 others(15): Show |
18 | 110 | 0.1636 | 965 | c.278 others(984): Show |
TMEM117 | ENSG00000139173.10 | transcript | ENST00000266534.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41474830 | A | AGTAAGGA others(958): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 382 | 0.0026 | 965 | c.728 others(982): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(959): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 306 | 0.0033 | 966 | c.130 others(985): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73731481 | G | GGGTTTCA others(959): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0027 | 1 | 428 | 0.0023 | 966 | c.*50 others(977): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 4612 | chr7 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289575 | T | TCCGTCCC others(959): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 295 | 0.0034 | 966 | c.*39 others(977): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2815 | chr1 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111144 | T | TCTCCTAA others(959): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0244 | 1 | 368 | 0.0027 | 966 | c.401 others(983): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111639 | G | GGGCACCT others(959): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 368 | 0.0027 | 966 | c.401 others(983): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111954 | T | TCCAGACA others(959): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0004 | 2 | 368 | 0.0054 | 966 | c.401 others(983): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(959): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0156 | 1 | 169 | 0.0059 | 966 | c.48- others(983): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581253 | T | TACGTATA others(959): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0091 | a0001c0002t0091g0136 | 1 | 169 | 0.0059 | 966 | c.48- others(983): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89342040 | C | CGGCCACG others(959): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0043 | a0043c0061 | a0043c0061t0003 | a0043c0061t0003g0120 | 1 | 310 | 0.0032 | 966 | c.-59 others(985): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932184 | A | ACTAGTAA others(959): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0028 a0001c0001t0002g0140 a0001c0001t0005g0139 others(4): Show |
7 | 162 | 0.0432 | 966 | c.23- others(981): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(959): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 966 | c.*36 others(977): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
CAPN11_chr6_44153820_44189401 | 44182049 | A | ACACATAC others(959): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0092 | 1 | 460 | 0.0022 | 966 | c.193 others(983): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(959): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0200 | 1 | 344 | 0.0029 | 966 | c.373 others(983): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(959): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02615.hp2 HG02630.hp1 |
a0002a0011 | a0002c0001a0011c0028 | a0002c0001t0001a0011c0028t0001 | a0002c0001t0001g0149 a0011c0028t0001g0145 a0011c0028t0001g0302 |
3 | 344 | 0.0087 | 966 | c.373 others(983): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822265 | G | GTGAGTGC others(959): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 246 | 0.0041 | 966 | c.711 others(985): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888467 | A | ACCCCTGC others(959): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03453.hp2 |
a0011a0055 | a0011c0079a0055c0078 | a0011c0079t0001a0055c0078t0001 | a0011c0079t0001g0131 a0055c0078t0001g0235 |
2 | 246 | 0.0081 | 966 | c.330 others(985): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647817 | G | GACCCAGT others(959): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 392 | 0.0026 | 966 | c.253 others(981): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647833 | G | GGTGGAGA others(959): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0162 | 1 | 392 | 0.0026 | 966 | c.253 others(981): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647985 | G | GACCCAGT others(959): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 392 | 0.0026 | 966 | c.253 others(981): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0236 |
2 | 320 | 0.0063 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0297 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(959): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 320 | 0.0031 | 966 | c.380 others(983): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232218 | G | GTCACCAC others(959): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0364 | 1 | 396 | 0.0025 | 966 | c.513 others(981): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725406 | A | AGAGGGAG others(959): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0194 | 1 | 324 | 0.0031 | 966 | c.340 others(983): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ERICH1_chr8_659200_736224 | 659603 | G | GCATCCTG others(959): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp1 |
a0001a0007 | a0001c0001a0007c0017 | a0001c0001t0002a0007c0017t0002 | a0001c0001t0002g0255 a0007c0017t0002g0326 |
2 | 378 | 0.0053 | 966 | c.*49 others(977): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4596 | chr8 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(959): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 397 | 0.0025 | 966 | c.*50 others(977): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(959): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02615.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0085 |
2 | 397 | 0.0050 | 966 | c.*50 others(977): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46635194 | C | CCCCCACC others(959): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0295 | 1 | 328 | 0.0031 | 966 | c.163 others(983): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(959): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0012 | a0012c0023 | a0012c0023t0015 | a0012c0023t0015g0068 | 1 | 134 | 0.0075 | 966 | c.520 others(987): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(959): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 274 | 0.0037 | 966 | c.804 others(983): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(959): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 204 | 0.0049 | 966 | c.978 others(983): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(959): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0234 | 1 | 284 | 0.0035 | 966 | c.126 others(983): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar |