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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXOC2_chr6_480154_698139 | 602242 | G | GTGCGAAT others(703): Show |
intron_variant | MODIFIER | HG02074.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0140 a0001c0001t0005g0091 |
2 | 231 | 0.0087 | 710 | c.743 others(727): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 602242 | G | GTGCGAAT others(703): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03017.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026 | a0001c0001t0001g0142 a0001c0001t0002g0104 a0001c0001t0002g0201 others(1): Show |
4 | 233 | 0.0172 | 710 | c.743 others(727): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128540035 | T | TATATATC others(703): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0029 | a0003c0029t0027 | a0003c0029t0027g0117 | 1 | 229 | 0.0044 | 710 | c.-24 others(721): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1791 | chr5 | TogoVar | |||||||
FLT3_chr13_27998274_28105576 | 27999111 | A | ATGTATAT others(703): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0235 | 1 | 272 | 0.0037 | 710 | c.*49 others(721): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4162 | chr13 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586506 | G | GGAAAGGA others(703): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0203 | 1 | 306 | 0.0033 | 710 | c.157 others(727): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FTCD_chr21_46131779_46160579 | 46144453 | T | TCCCCCTC others(703): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0114 | 1 | 228 | 0.0044 | 710 | c.126 others(727): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 10/13 | chr21 | TogoVar | |||||||
GEMIN4_chr17_739421_757264 | 753126 | A | AGGAAGTG others(703): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0017 | a0017c0020 | a0017c0020t0001 | a0017c0020t0001g0029 | 1 | 432 | 0.0023 | 710 | c.-98 others(719): Show |
GEMIN4 | ENSG00000179409.11 | transcript | ENST00000319004.6 | protein_coding | 863 | chr17 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323556 | G | GTGTGTGT others(703): Show |
upstream_gene_variant | MODIFIER | NA18949.hp2 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0009 | 1 | 149 | 0.0067 | 710 | c.-47 others(721): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4761 | chrX | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(703): Show |
upstream_gene_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 62 | 0.0161 | 710 | c.-21 others(721): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161678 | G | GGACCCCT others(703): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 268 | 0.0037 | 710 | c.-52 others(719): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 470 | chr11 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161833 | G | GGACCCCT others(703): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 100 | 0.0100 | 710 | c.-68 others(719): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 625 | chr11 | TogoVar | |||||||
KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(703): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012 | a0001c0001t0010g0161 a0001c0001t0012g0024 |
4 | 8 | 0.5000 | 710 | c.-46 others(721): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCT others(703): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 4 | 0.2500 | 710 | c.-27 others(721): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(703): Show |
upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 77 | 0.0130 | 710 | c.-27 others(721): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205150 | C | CCACACAC others(703): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0128 | 1 | 10 | 0.1000 | 710 | c.212 others(729): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LOC128092252_chr15_50643802_50691717 | 50679475 | T | TATATATA others(703): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 381 | 0.0026 | 710 | c.187 others(727): Show |
LOC128092252 | ENSG00000288645.1 | transcript | ENST00000676296.1 | protein_coding | 1/3 | chr15 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(703): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 170 | 0.0059 | 710 | c.-30 others(721): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(703): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0053 | a0001c0001t0001g0007 a0001c0001t0053g0143 |
3 | 8 | 0.3750 | 710 | c.368 others(727): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364445 | A | ACACCCAC others(703): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0105 | 1 | 252 | 0.0040 | 710 | c.129 others(727): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579243 | C | CCATCACC others(703): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0313 | 1 | 252 | 0.0040 | 710 | c.391 others(725): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579243 | C | CCATCACC others(703): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 252 | 0.0040 | 710 | c.391 others(725): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(703): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00621.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0002g0004 others(23): Show |
37 | 118 | 0.3136 | 710 | c.*23 others(721): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(703): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0038a0001c0001t0067 | a0001c0001t0005g0009 a0001c0001t0038g0155 a0001c0001t0038g0161 others(1): Show |
4 | 85 | 0.0471 | 710 | c.*23 others(721): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(703): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0133 | 1 | 82 | 0.0122 | 710 | c.*23 others(721): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(703): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0061 | 1 | 82 | 0.0122 | 710 | c.*23 others(721): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2037237 | G | GGCCTCCC others(703): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0187 | 1 | 82 | 0.0122 | 710 | c.*23 others(721): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 233 | chr19 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218796 | C | CCCGTCTC others(703): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0051 | 1 | 137 | 0.0073 | 710 | c.114 others(729): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760471 | G | GTCCAGCG others(703): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0100 | 1 | 246 | 0.0041 | 710 | c.148 others(729): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
NOL4L_chr20_32438059_32590333 | 32563187 | G | GGGAGGGT others(703): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 106 | 0.0094 | 710 | c.321 others(729): Show |
NOL4L | ENSG00000197183.15 | transcript | ENST00000621426.7 | protein_coding | 1/10 | chr20 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(703): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 154 | 0.0065 | 710 | c.360 others(729): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAC others(703): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0003g0032 |
3 | 150 | 0.0200 | 710 | c.360 others(729): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952763 | A | AGTCAGAC others(703): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0081 |
2 | 149 | 0.0134 | 710 | c.360 others(729): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PDE1C_chr7_31746179_32075407 | 31886791 | T | TTTCGGAT others(703): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 218 | 0.0046 | 710 | c.129 others(727): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(703): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0014 | a0014c0013 | a0014c0013t0001 | a0014c0013t0001g0020 | 1 | 24 | 0.0417 | 710 | c.147 others(727): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133778 | T | TCTCTCCA others(703): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 207 | 0.0048 | 710 | c.*23 others(721): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2066 | chr19 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(703): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 174 | 0.0057 | 710 | c.66+ others(725): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323064 | T | TATATTAT others(703): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 130 | 0.0077 | 710 | c.389 others(731): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679092 | T | TATAAATA others(703): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 129 | 0.0078 | 710 | c.-75 others(729): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339677 | C | CTCTATCC others(703): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19087.hp2 |
a0001a0003 | a0001c0004a0003c0001 | a0001c0004t0005a0003c0001t0001 | a0001c0004t0005g0123 a0003c0001t0001g0124 |
2 | 235 | 0.0085 | 710 | c.89- others(723): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43339683 | C | CCCCCCAC others(703): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0253 | 1 | 162 | 0.0062 | 710 | c.89- others(723): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SLC25A41_chr19_6421037_6438763 | 6429376 | G | GGAAGGGA others(703): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02280.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 a0001c0001t0004g0230 |
4 | 5 | 0.8000 | 710 | c.624 others(725): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATTG others(703): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0064 | 1 | 143 | 0.0070 | 710 | c.176 others(727): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATTG others(703): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0075 | 1 | 143 | 0.0070 | 710 | c.176 others(727): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SLC6A18_chr5_1220381_1251189 | 1238245 | G | GTCAGGTT others(703): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 437 | 0.0023 | 710 | c.732 others(725): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TCF25_chr16_89868592_89916379 | 89884843 | C | CCTCTCCC others(703): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0268 | 1 | 203 | 0.0049 | 710 | c.429 others(725): Show |
TCF25 | ENSG00000141002.20 | transcript | ENST00000263346.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628356 | C | CGGGGTGA others(703): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0001 | a0002c0001t0082 | a0002c0001t0082g0288 | 1 | 238 | 0.0042 | 710 | c.299 others(725): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(703): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 82 | 0.0122 | 710 | c.*62 others(721): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(703): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 2 | 83 | 0.0241 | 710 | c.*62 others(721): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(703): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 82 | 0.0122 | 710 | c.*62 others(721): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(703): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0050 | 1 | 264 | 0.0038 | 710 | c.189 others(727): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |