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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0015 | a0015c0021 | a0015c0021t0001 | a0015c0021t0001g0335 | 1 | 284 | 0.0035 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 284 | 0.0035 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0336 | 1 | 284 | 0.0035 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 284 | 0.0035 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 284 | 0.0035 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | NA18964.hp2 NA19002.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 a0001c0001t0001g0302 |
2 | 285 | 0.0070 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 284 | 0.0035 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6093): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0354 | 1 | 284 | 0.0035 | 6100 | c.831 others(6119): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KSR2_chr12_117448012_117973990 | 117786317 | T | TTATTTTT others(6094): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0003 | a0001c0003t0062 | a0001c0003t0062g0046 | 1 | 193 | 0.0052 | 6101 | c.473 others(6120): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 3/19 | chr12 | TogoVar | |||||||
NEDD4_chr15_55821922_55998612 | 55958936 | T | TAAAACTT others(6094): Show |
intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 252 | 0.0040 | 6101 | c.120 others(6118): Show |
NEDD4 | ENSG00000069869.17 | transcript | ENST00000435532.8 | protein_coding | 2/28 | chr15 | TogoVar | |||||||
RALYL_chr8_84178274_84926844 | 84516373 | T | TTAAAAGC others(6094): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0037 | 1 | 77 | 0.0130 | 6101 | c.-23 others(6120): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84516373 | T | TTAAAAGC others(6094): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 77 | 0.0130 | 6101 | c.-23 others(6120): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84516373 | T | TTAAAAGC others(6094): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0034 | 1 | 77 | 0.0130 | 6101 | c.-23 others(6120): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6094): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 109 | 0.0092 | 6101 | c.246 others(6118): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6094): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01975.hp2 HG02155.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 a0001c0002t0001g0064 a0001c0002t0001g0119 |
3 | 111 | 0.0270 | 6101 | c.246 others(6118): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6094): Show |
intron_variant | MODIFIER | HG01099.hp1 HG04199.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0125 a0001c0002t0007g0121 |
2 | 110 | 0.0182 | 6101 | c.246 others(6118): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6094): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 109 | 0.0092 | 6101 | c.246 others(6118): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45358082 | T | TAAAAAAG others(6094): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 174 | 0.0057 | 6101 | c.58+ others(6118): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45358082 | T | TAAAAAAG others(6094): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0033 | 1 | 174 | 0.0057 | 6101 | c.58+ others(6118): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147229551 | G | GTACTTTG others(6094): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0116 | 1 | 348 | 0.0029 | 6101 | c.249 others(6118): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SUPT3H_chr6_44821726_45382934 | 45358082 | T | TAAAAAAG others(6094): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0163 | 1 | 260 | 0.0038 | 6101 | c.101 others(6118): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
SUPT3H_chr6_44821726_45382934 | 45358082 | T | TAAAAAAG others(6094): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0165 | 1 | 260 | 0.0038 | 6101 | c.101 others(6118): Show |
SUPT3H | ENSG00000196284.18 | transcript | ENST00000371459.6 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6094): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 284 | 0.0035 | 6101 | c.831 others(6120): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6094): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 284 | 0.0035 | 6101 | c.831 others(6120): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6094): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02080.hp1 NA19077.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 others(1): Show |
4 | 287 | 0.0139 | 6101 | c.831 others(6120): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6094): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01891.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0011 a0002c0002t0002g0289 |
3 | 286 | 0.0105 | 6101 | c.831 others(6120): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6094): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 284 | 0.0035 | 6101 | c.831 others(6120): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6094): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 a0001c0001t0001g0339 |
2 | 285 | 0.0070 | 6101 | c.831 others(6120): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TDRD5_chr1_179586832_179696272 | 179606226 | T | TCTGGTAT others(6094): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02970.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 |
3 | 286 | 0.0105 | 6101 | c.831 others(6120): Show |
TDRD5 | ENSG00000162782.16 | transcript | ENST00000444136.6 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HECW1_chr7_43107647_43571001 | 43187567 | T | TCTATTAC others(6095): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0012 | a0001c0012t0007 | a0001c0012t0007g0177 | 1 | 176 | 0.0057 | 6102 | c.-31 others(6121): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PEAK1_chr15_77103158_77425104 | 77356613 | T | TAAGATTC others(6095): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0303 | 1 | 323 | 0.0031 | 6102 | c.-60 others(6121): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77356613 | T | TAAGATTC others(6095): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0302 | 1 | 323 | 0.0031 | 6102 | c.-60 others(6121): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6095): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02071.hp1 HG02165.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0002t0001g0017 others(4): Show |
7 | 115 | 0.0609 | 6102 | c.246 others(6119): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6095): Show |
intron_variant | MODIFIER | HG02293.hp2 HG03492.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0001g0078 a0001c0001t0003g0088 |
3 | 111 | 0.0270 | 6102 | c.246 others(6119): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6095): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0137 | 1 | 109 | 0.0092 | 6102 | c.246 others(6119): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6095): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0313 | 1 | 287 | 0.0035 | 6102 | c.124 others(6121): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6095): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0310 | 1 | 287 | 0.0035 | 6102 | c.124 others(6121): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6095): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0315 | 1 | 287 | 0.0035 | 6102 | c.124 others(6121): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
COX11_chr17_54955422_54973654 | 54963805 | T | TAAAAAGA others(6096): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 434 | 0.0023 | 6103 | c.523 others(6118): Show |
COX11 | ENSG00000166260.13 | transcript | ENST00000299335.8 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
HECW1_chr7_43107647_43571001 | 43187567 | T | TCTATTAC others(6096): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0065 | 1 | 176 | 0.0057 | 6103 | c.-31 others(6122): Show |
HECW1 | ENSG00000002746.15 | transcript | ENST00000395891.7 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LNX1_chr4_53454301_53596486 | 53502122 | A | ATAATAAT others(6096): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 350 | 0.0029 | 6103 | c.776 others(6120): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
LNX1_chr4_53454301_53596486 | 53502122 | A | ATAATAAT others(6096): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 350 | 0.0029 | 6103 | c.776 others(6120): Show |
LNX1 | ENSG00000072201.14 | transcript | ENST00000263925.8 | protein_coding | 4/10 | chr4 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6096): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 109 | 0.0092 | 6103 | c.246 others(6120): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6096): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0022 |
2 | 110 | 0.0182 | 6103 | c.246 others(6120): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6096): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 109 | 0.0092 | 6103 | c.246 others(6120): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6096): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 109 | 0.0092 | 6103 | c.246 others(6120): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72089796 | T | TAAGAAAA others(6096): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0134 | 1 | 109 | 0.0092 | 6103 | c.246 others(6120): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6096): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0314 | 1 | 287 | 0.0035 | 6103 | c.124 others(6122): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SCFD1_chr14_30617319_30740850 | 30681602 | G | GCTCAATA others(6096): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 NA18948.hp1 others(4): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0001 | a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0002t0001g0316 others(4): Show |
7 | 293 | 0.0239 | 6103 | c.124 others(6122): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 54963805 | T | TAAAAAGA others(6096): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0237 | 1 | 376 | 0.0027 | 6103 | c.-51 others(6114): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 4959 | chr17 | TogoVar |