| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1158): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0009a0001c0001t0001g0050a0001c0001t0001g0051others(13): Show | 16 | 256 | 0.0625 | 1165 | c.365 others(1182): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1158): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG03710.hp1 others(1): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0007a0001c0018t0001 | a0001c0002t0007g0052a0001c0002t0007g0188a0001c0002t0007g0189others(1): Show | 4 | 256 | 0.0156 | 1165 | c.365 others(1182): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507379 | T | TACGTATA others(1158): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18943.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0245a0001c0001t0004g0248a0001c0001t0004g0249 | 3 | 388 | 0.0077 | 1165 | c.-23 others(1182): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| TTLL8_chr22_50013575_50063298 | 50029363 | C | CCCCACAC others(1158): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0095 | 1 | 224 | 0.0045 | 1165 | c.225 others(1184): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
| USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1158): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 202 | 0.0050 | 1165 | c.*53 others(1176): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | ||||||
| ABCA7_chr19_1035107_1070572 | 1049668 | A | ACCCCCCA others(1159): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0014 | a0014c0019 | a0014c0019t0002 | a0014c0019t0002g0029 | 1 | 30 | 0.0333 | 1166 | c.255 others(1183): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CDHR2_chr5_176544342_176600824 | 176591766 | A | ATGATGGT others(1159): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0123 | 1 | 344 | 0.0029 | 1166 | c.373 others(1183): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1159): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0046 | 1 | 116 | 0.0086 | 1166 | c.-52 others(1187): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DHRSX_chrX_2214506_2505976 | 2314432 | A | AGAGAGGA others(1159): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008 | 1 | 50 | 0.0200 | 1166 | c.287 others(1185): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478086 | G | GGGGAAAA others(1159): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0009 | 1 | 88 | 0.0114 | 1166 | c.158 others(1183): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1159): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0221 | 1 | 358 | 0.0028 | 1166 | c.236 others(1185): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1159): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 358 | 0.0028 | 1166 | c.236 others(1185): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1159): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0227 | 1 | 358 | 0.0028 | 1166 | c.236 others(1185): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522716 | G | GACCCAGC others(1159): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0334 | 1 | 358 | 0.0028 | 1166 | c.236 others(1185): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
| DISP3_chr1_11474155_11542551 | 11522738 | G | GACCCAGC others(1159): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0255 | 1 | 358 | 0.0028 | 1166 | c.236 others(1185): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | chr1 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 978332 | C | CTGGGTTC others(1159): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0034 | 1 | 40 | 0.0250 | 1166 | c.73+ others(1183): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619512 | T | TCCATGCC others(1159): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 250 | 0.0040 | 1166 | c.-10 others(1185): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1159): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00642.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0098a0001c0001t0001g0099a0001c0002t0001g0006others(24): Show | 43 | 374 | 0.1150 | 1166 | c.*14 others(1177): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1159): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0173 | 1 | 374 | 0.0027 | 1166 | c.*14 others(1177): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
| FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(1159): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0289 | 1 | 418 | 0.0024 | 1166 | c.119 others(1185): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241807609 | C | CCTCCCCC others(1159): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 314 | 0.0032 | 1166 | c.*34 others(1177): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3323 | chr2 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77252946 | A | ATCACCAC others(1159): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0072 | 1 | 366 | 0.0027 | 1166 | c.666 others(1183): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | chr18 | TogoVar | ||||||
| GPRIN1_chr5_176590802_176615156 | 176591766 | A | ATGATGGT others(1159): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 397 | 0.0025 | 1166 | c.*50 others(1177): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4035 | chr5 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1159): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 312 | 0.0032 | 1166 | c.-41 others(1181): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LMTK3_chr19_48480271_48516835 | 48514891 | A | AAAAAGAA others(1159): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0000 | a0000c0001 | a0000c0001t0002 | a0000c0001t0002g0279 | 1 | 314 | 0.0032 | 1166 | c.-33 others(1177): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 3057 | chr19 | TogoVar | ||||||
| LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1159): Show |
intron_variant | MODIFIER | HG03710.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0038 | a0001c0001t0035g0020a0001c0001t0038g0001 | 2 | 108 | 0.0185 | 1166 | c.648 others(1185): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1159): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 140 | 0.0071 | 1166 | c.133 others(1185): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1159): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 384 | 0.0026 | 1166 | c.160 others(1183): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
| OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1159): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1166 | c.*31 others(1177): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
| OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1159): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1166 | c.*31 others(1177): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
| OR2T1_chr1_248398048_248413020 | 248408519 | A | AGCATTTG others(1159): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 266 | 0.0038 | 1166 | c.*14 others(1177): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 500 | chr1 | TogoVar | ||||||
| OR2T1_chr1_248398048_248413020 | 248408572 | A | AGCATTTG others(1159): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG03130.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 266 | 0.0113 | 1166 | c.*14 others(1177): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 553 | chr1 | TogoVar | ||||||
| RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1159): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01934.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025a0001c0001t0003g0035 | 2 | 322 | 0.0062 | 1166 | c.-93 others(1183): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SLPI_chr20_45247239_45259564 | 45251918 | T | TGGCAGGA others(1159): Show |
downstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 1166 | c.*49 others(1175): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 320 | chr20 | TogoVar | ||||||
| SLPI_chr20_45247239_45259564 | 45251918 | T | TGGCAGGA others(1159): Show |
downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | 1166 | c.*49 others(1175): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 320 | chr20 | TogoVar | ||||||
| TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(1159): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 388 | 0.0026 | 1166 | c.*26 others(1177): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1159): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 256 | 0.0039 | 1166 | c.365 others(1183): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1159): Show |
intron_variant | MODIFIER | HG01891.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0157a0001c0001t0016g0194 | 2 | 256 | 0.0078 | 1166 | c.365 others(1183): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96439188 | C | CCTCCCAG others(1159): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01952.hp2 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0056a0001c0001t0002g0036others(3): Show | 6 | 256 | 0.0234 | 1166 | c.365 others(1183): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 3/20 | chr10 | TogoVar | ||||||
| TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1159): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1166 | c.*24 others(1177): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(1160): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0047 | 1 | 337 | 0.0030 | 1167 | c.179 others(1188): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144686977 | C | CCCCCCGT others(1160): Show |
upstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 246 | 0.0041 | 1167 | c.-13 others(1178): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1132 | chr8 | TogoVar | ||||||
| CUX2_chr12_111029165_111355554 | 111325791 | G | GTGTTGTG others(1160): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 100 | 0.0100 | 1167 | c.292 others(1186): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CYLC1_chrX_83856146_83891698 | 83878210 | T | TAAATATA others(1160): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 208 | 0.0048 | 1167 | c.192 others(1186): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 478081 | G | GGGGAGGG others(1160): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0001 | 1 | 88 | 0.0114 | 1167 | c.158 others(1184): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1160): Show |
downstream_gene_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 | 1 | 374 | 0.0027 | 1167 | c.*14 others(1178): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1160): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 | 1 | 374 | 0.0027 | 1167 | c.*14 others(1178): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
| EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(1160): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0052 | 1 | 374 | 0.0027 | 1167 | c.*14 others(1178): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | ||||||
| ITGB1BP1_chr2_9398475_9428528 | 9400231 | C | CCCTCCCC others(1160): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 276 | 0.0036 | 1167 | c.*66 others(1178): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3243 | chr2 | TogoVar | ||||||
| LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1160): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0007 | a0003c0007t0054 | a0003c0007t0054g0048 | 1 | 108 | 0.0093 | 1167 | c.648 others(1186): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |