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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2988): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 282 | 0.0035 | 2995 | c.265 others(3016): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2988): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 282 | 0.0035 | 2995 | c.265 others(3016): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2988): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 282 | 0.0035 | 2995 | c.265 others(3016): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2988): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0288 | 1 | 282 | 0.0035 | 2995 | c.265 others(3016): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(2988): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0289 a0001c0003t0014g0290 |
2 | 3 | 0.6667 | 2995 | c.-12 others(3016): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ASCC3_chr6_100503194_100886329 | 100746160 | T | TAAAGAAA others(2989): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0067 | 1 | 166 | 0.0060 | 2996 | c.173 others(3017): Show |
ASCC3 | ENSG00000112249.14 | transcript | ENST00000369162.7 | protein_coding | 10/41 | chr6 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2989): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0089 | 1 | 282 | 0.0035 | 2996 | c.265 others(3017): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2989): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 282 | 0.0035 | 2996 | c.265 others(3017): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2989): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 282 | 0.0035 | 2996 | c.265 others(3017): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272995 | T | TGAGACCC others(2989): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 75 | 0.0133 | 2996 | c.438 others(3013): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2989): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 7 | 0.1429 | 2996 | c.*27 others(3007): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
RRAS2_chr11_14272922_14364183 | 14276623 | A | AGGGAGGG others(2989): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 7 | 0.1429 | 2996 | c.*27 others(3007): Show |
RRAS2 | ENSG00000133818.14 | transcript | ENST00000256196.9 | protein_coding | 1298 | chr11 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2989): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 38 | 0.0263 | 2996 | c.*19 others(3007): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411286 | G | GGGGGTCT others(2990): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0007 | a0007c0015 | a0007c0015t0009 | a0007c0015t0009g0143 | 1 | 276 | 0.0036 | 2997 | c.-23 others(3008): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2140 | chr19 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2990): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0030 | a0001c0030t0038 | a0001c0030t0038g0074 | 1 | 8 | 0.1250 | 2997 | c.400 others(3016): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INSYN2B_chr5_169856303_169985495 | 169949675 | T | TCAATGTG others(2990): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0300 | 1 | 233 | 0.0043 | 2997 | c.-91 others(3018): Show |
INSYN2B | ENSG00000204767.4 | transcript | ENST00000377365.4 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2990): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 282 | 0.0035 | 2997 | c.265 others(3018): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2990): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 282 | 0.0035 | 2997 | c.265 others(3018): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2990): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18989.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 others(1): Show |
4 | 285 | 0.0140 | 2997 | c.265 others(3018): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2990): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 282 | 0.0035 | 2997 | c.265 others(3018): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2990): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 282 | 0.0035 | 2997 | c.265 others(3018): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132150015 | T | TCACACCA others(2990): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 110 | 0.0091 | 2997 | c.902 others(3012): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432003 | T | TAGGGTGG others(2990): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0233 | 1 | 304 | 0.0033 | 2997 | c.101 others(3014): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2990): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 38 | 0.0263 | 2997 | c.*19 others(3008): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2991): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0201 | 1 | 288 | 0.0035 | 2998 | c.96+ others(3013): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2991): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 194 | 0.0052 | 2998 | c.573 others(3015): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502044 | C | CCCCCCAC others(2991): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0076 | a0076c0052 | a0076c0052t0001 | a0076c0052t0001g0074 | 1 | 282 | 0.0035 | 2998 | c.218 others(3015): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2991): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0294 | 1 | 282 | 0.0035 | 2998 | c.265 others(3019): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PRR5L_chr11_36291288_36470204 | 36309624 | C | CATGATGG others(2991): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0061 | 1 | 43 | 0.0233 | 2998 | c.-12 others(3019): Show |
PRR5L | ENSG00000135362.14 | transcript | ENST00000530639.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14632572 | G | GAAAGAAT others(2991): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0059 | 1 | 102 | 0.0098 | 2998 | c.40- others(3015): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2991): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0019 | 1 | 19 | 0.0526 | 2998 | c.389 others(3017): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2991): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 38 | 0.0263 | 2998 | c.*19 others(3009): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
TRA2A_chr7_23499780_23536981 | 23503595 | G | GTGGGAGT others(2991): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 38 | 0.0263 | 2998 | c.*19 others(3009): Show |
TRA2A | ENSG00000164548.12 | transcript | ENST00000297071.9 | protein_coding | 1184 | chr7 | TogoVar | |||||||
ZBTB44_chr11_130221677_130319917 | 130301065 | T | TTAAAGAT others(2991): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 287 | 0.0035 | 2998 | c.-57 others(3017): Show |
ZBTB44 | ENSG00000196323.14 | transcript | ENST00000357899.9 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501132 | G | GGGCCCTC others(2991): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 222 | 0.0045 | 2998 | c.268 others(3017): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 417622 | G | GCCTGTCA others(2992): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 20 | 0.0500 | 2999 | c.739 others(3016): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2992): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0066 | 1 | 8 | 0.1250 | 2999 | c.400 others(3018): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(2992): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0015 | a0001c0015t0043 | a0001c0015t0043g0018 | 1 | 8 | 0.1250 | 2999 | c.400 others(3018): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAGAGAG others(2992): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0035 | a0035c0038 | a0035c0038t0001 | a0035c0038t0001g0172 | 1 | 8 | 0.1250 | 2999 | c.723 others(3016): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MSH3_chr5_80649652_80881815 | 80803524 | T | TCTCTTCA others(2992): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 282 | 0.0035 | 2999 | c.265 others(3020): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45797737 | G | GTGGATCC others(2992): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 a0001c0001t0002g0274 |
2 | 3 | 0.6667 | 2999 | c.-12 others(3020): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(2992): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03041.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0192 a0001c0001t0003g0196 a0001c0001t0003g0197 |
3 | 89 | 0.0337 | 2999 | c.-51 others(3018): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |