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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
QPCT_chr2_37339630_37378322 | 37347144 | T | TTTTTTAT others(32): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03098.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 3 | 333 | 0.0090 | 39 | c.120 others(56): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QPCT_chr2_37339630_37378322 | 37347144 | T | TTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 331 | 0.0030 | 39 | c.120 others(56): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAB18_chr10_27499304_27547239 | 27546498 | A | ATTTTTTT others(32): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 9 | 0.1111 | 39 | c.*84 others(50): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 4260 | chr10 | TogoVar | |||||||
RAB40A_chrX_103494130_103524489 | 103506651 | A | ATATTCAC others(32): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03486.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0052 |
3 | 264 | 0.0114 | 39 | c.-70 others(56): Show |
RAB40A | ENSG00000172476.4 | transcript | ENST00000304236.2 | protein_coding | 2/2 | chrX | TogoVar | |||||||
RAB5B_chr12_55969078_56001683 | 55996003 | A | ATATATAT others(32): Show |
3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0010 | 1 | 188 | 0.0053 | 39 | c.*37 others(50): Show |
RAB5B | ENSG00000111540.16 | transcript | ENST00000360299.10 | protein_coding | 6/6 | 3793 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RAB6A_chr11_73670638_73766074 | 73739278 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 332 | 0.0030 | 39 | c.71- others(54): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739280 | A | ATACATAT others(32): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0327 a0001c0001t0002g0329 |
2 | 304 | 0.0066 | 39 | c.71- others(54): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739280 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 303 | 0.0033 | 39 | c.71- others(54): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739284 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 55 | 0.0182 | 39 | c.71- others(54): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739284 | A | AAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 55 | 0.0182 | 39 | c.71- others(54): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB6A_chr11_73670638_73766074 | 73739284 | A | AAAAATAT others(32): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 55 | 0.0182 | 39 | c.71- others(54): Show |
RAB6A | ENSG00000175582.20 | transcript | ENST00000336083.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
RAB7A_chr3_128721183_128819798 | 128795751 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 3 | 0.3333 | 39 | c.53+ others(52): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB7A_chr3_128721183_128819798 | 128809936 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 40 | 0.0250 | 39 | c.528 others(56): Show |
RAB7A | ENSG00000075785.14 | transcript | ENST00000265062.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RABEP2_chr16_28899421_28930238 | 28920261 | A | AAGGTGTC others(32): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 364 | 0.0027 | 39 | c.275 others(54): Show |
RABEP2 | ENSG00000177548.13 | transcript | ENST00000358201.9 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174534775 | C | CAAAAAAA others(32): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0190 | 1 | 68 | 0.0147 | 39 | c.171 others(62): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 95 | 0.0105 | 39 | c.234 others(60): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174833466 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0001g0039 others(7): Show |
10 | 104 | 0.0962 | 39 | c.234 others(60): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAD21L1_chr20_1221044_1260876 | 1221354 | T | TTTCTTTC others(32): Show |
upstream_gene_variant | MODIFIER | HG02897.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0034 | 1 | 357 | 0.0028 | 39 | c.-48 others(50): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 4689 | chr20 | TogoVar | |||||||
RAD51B_chr14_67814779_68483093 | 68260318 | T | TGTGTGTG others(32): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 60 | 0.0167 | 39 | c.757 others(58): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4802369 | G | GGGCCCCC others(32): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01261.hp1 HG02698.hp2 others(20): Show |
a0004a0010a0024 | a0004c0004a0004c0020a0010c0012others(1): Show | a0004c0004t0003a0004c0004t0006a0004c0004t0041others(7): Show | a0004c0004t0003g0165 a0004c0004t0003g0173 a0004c0004t0003g0175 others(20): Show |
23 | 290 | 0.0793 | 39 | c.250 others(56): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 11/14 | chr7 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4886300 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0021 | a0021c0045 | a0021c0045t0002 | a0021c0045t0002g0101 | 1 | 234 | 0.0043 | 39 | c.-27 others(50): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2585 | chr7 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4886301 | T | TATATATA others(32): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0173 | 1 | 184 | 0.0054 | 39 | c.-27 others(50): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2586 | chr7 | TogoVar | |||||||
RADIL_chr7_4792055_4888716 | 4886301 | T | TATATATA others(32): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG03209.hp1 others(4): Show |
a0001a0003a0004others(1): Show | a0001c0006a0003c0005a0004c0004others(1): Show | a0001c0006t0001a0003c0005t0016a0004c0004t0003others(1): Show | a0001c0006t0001g0171 a0001c0006t0001g0172 a0001c0006t0001g0251 others(4): Show |
7 | 190 | 0.0368 | 39 | c.-27 others(50): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 2586 | chr7 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350857 | C | CGGGGGAC others(32): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0117 | 1 | 209 | 0.0048 | 39 | c.-57 others(48): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 397 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350865 | C | CGGGGGGA others(32): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0097 | 1 | 284 | 0.0035 | 39 | c.-56 others(48): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 389 | chr20 | TogoVar | |||||||
RAE1_chr20_57346255_57384202 | 57350912 | C | CGGGGGGG others(32): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 297 | 0.0034 | 39 | c.-51 others(48): Show |
RAE1 | ENSG00000101146.13 | transcript | ENST00000395841.7 | protein_coding | 342 | chr20 | TogoVar | |||||||
RALGAPA1_chr14_35533356_35814295 | 35811776 | A | AAAAAAAA others(32): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 91 | 0.0110 | 39 | c.-29 others(50): Show |
RALGAPA1 | ENSG00000174373.17 | transcript | ENST00000680220.1 | protein_coding | 2482 | chr14 | TogoVar | |||||||
RALGPS1_chr9_126909782_127228166 | 127188832 | T | TTAAAAAA others(32): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01257.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 a0001c0001t0001g0230 |
2 | 102 | 0.0196 | 39 | c.911 others(56): Show |
RALGPS1 | ENSG00000136828.19 | transcript | ENST00000259351.10 | protein_coding | 11/18 | chr9 | TogoVar | |||||||
RALGPS2_chr1_178720244_178926840 | 178788841 | C | CTTTCTTT others(32): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0074 a0001c0001t0021g0075 |
2 | 134 | 0.0149 | 39 | c.213 others(56): Show |
RALGPS2 | ENSG00000116191.19 | transcript | ENST00000367635.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84342296 | A | ATATATAT others(32): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 82 | 0.0122 | 39 | c.-24 others(60): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
RAMP1_chr2_237854623_237917106 | 237902298 | A | AGGAGGAG others(32): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 397 | 0.0025 | 39 | c.192 others(56): Show |
RAMP1 | ENSG00000132329.11 | transcript | ENST00000254661.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAMP1_chr2_237854623_237917106 | 237902337 | T | TGGAGGAG others(32): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0297 | 1 | 402 | 0.0025 | 39 | c.192 others(56): Show |
RAMP1 | ENSG00000132329.11 | transcript | ENST00000254661.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
RAP1GDS1_chr4_98256384_98448858 | 98283446 | A | ATATTAGG others(32): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 240 | 0.0042 | 39 | c.5-9 others(52): Show |
RAP1GDS1 | ENSG00000138698.15 | transcript | ENST00000408927.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RARS1_chr5_168481471_168524301 | 168518071 | C | CTTTTTTT others(32): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 a0001c0001t0001g0351 a0001c0001t0001g0354 |
3 | 78 | 0.0385 | 39 | c.187 others(54): Show |
RARS1 | ENSG00000113643.9 | transcript | ENST00000231572.8 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASA1_chr5_87262883_87396916 | 87287854 | C | CACCATAT others(32): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 279 | 0.0036 | 39 | c.539 others(58): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114010794 | G | GGGGCCGC others(32): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0014 |
2 | 23 | 0.0870 | 39 | c.159 others(56): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 16/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114044516 | G | GCCCCGCC others(32): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 17 | 0.0588 | 39 | c.278 others(56): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114103536 | A | ACTGCCAC others(32): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01167.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0006g0012 others(10): Show |
13 | 66 | 0.1970 | 39 | c.55+ others(56): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114111109 | A | ACGAGCTG others(32): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0052 | 1 | 27 | 0.0370 | 39 | c.55+ others(56): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASAL2_chr1_178089104_178483850 | 178441009 | G | GGCCTTTA others(32): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0012a0001c0001t0019others(3): Show | a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0068 others(38): Show |
41 | 178 | 0.2303 | 39 | c.829 others(54): Show |
RASAL2 | ENSG00000075391.18 | transcript | ENST00000367649.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RASGRF2_chr5_80955363_81235162 | 80996471 | T | TTTCTTCT others(32): Show |
intron_variant | MODIFIER | HG02698.hp1 HG03209.hp1 NA19081.hp2 |
a0001a0002 | a0001c0002a0001c0008a0002c0005 | a0001c0002t0003a0001c0008t0008a0002c0005t0005 | a0001c0002t0003g0112 a0001c0008t0008g0248 a0002c0005t0005g0240 |
3 | 107 | 0.0280 | 39 | c.288 others(58): Show |
RASGRF2 | ENSG00000113319.13 | transcript | ENST00000265080.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RASSF5_chr1_206502531_206594448 | 206523821 | A | ATTATATA others(32): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02083.hp2 HG03942.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0165 others(6): Show |
9 | 344 | 0.0262 | 39 | c.458 others(58): Show |
RASSF5 | ENSG00000266094.8 | transcript | ENST00000579436.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RASSF8_chr12_25953682_26077869 | 26035448 | G | GTATATGA others(32): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0349 a0001c0001t0024g0202 |
2 | 388 | 0.0052 | 39 | c.-10 others(60): Show |
RASSF8 | ENSG00000123094.16 | transcript | ENST00000689635.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 23 | 0.0435 | 39 | c.-35 others(50): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RB1_chr13_48298751_48486890 | 48300336 | A | ATATATAT others(32): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 23 | 0.0435 | 39 | c.-35 others(50): Show |
RB1 | ENSG00000139687.16 | transcript | ENST00000267163.6 | protein_coding | 3414 | chr13 | TogoVar | |||||||
RBBP8NL_chr20_62405237_62432539 | 62406647 | G | GCCCAGGT others(32): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(165): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0011a0001c0024others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0020 others(130): Show |
168 | 430 | 0.3907 | 39 | c.*42 others(50): Show |
RBBP8NL | ENSG00000130701.4 | transcript | ENST00000252998.2 | protein_coding | 3589 | chr20 | TogoVar | |||||||
RBBP8_chr18_22928328_23031486 | 23022602 | A | AAAAATAA others(32): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 214 | 0.0047 | 39 | c.259 others(56): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RBBP8_chr18_22928328_23031486 | 23022603 | A | AAAATAAA others(32): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 others(1): Show |
4 | 326 | 0.0123 | 39 | c.259 others(56): Show |
RBBP8 | ENSG00000101773.19 | transcript | ENST00000327155.10 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6637225 | C | CAAATATA others(32): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19240.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0025 | a0001c0001t0003g0050 a0001c0001t0011g0035 a0001c0001t0025g0048 |
3 | 57 | 0.0526 | 39 | c.-63 others(58): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7186994 | C | CACACACA others(32): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0029 | 1 | 20 | 0.0500 | 39 | c.27+ others(58): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |