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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ROCK1_chr18_20941906_21116813 | 21043551 | T | TTATATGT others(18): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044 | 1 | 212 | 0.0047 | 25 | c.675 others(40): Show |
ROCK1 | ENSG00000067900.9 | transcript | ENST00000399799.3 | protein_coding | 6/32 | chr18 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11295990 | G | GAGAGGAG others(18): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0115 | 1 | 320 | 0.0031 | 25 | c.142 others(42): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11296005 | G | GAGAGAGA others(18): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0269 | 1 | 320 | 0.0031 | 25 | c.142 others(42): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11296005 | G | GGAGAGAG others(18): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18941.hp1 NA19070.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020a0002c0002t0002g0063a0002c0002t0002g0090 | 3 | 320 | 0.0094 | 25 | c.142 others(42): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11317612 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02976.hp1 NA19006.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0065a0002c0002t0003 | a0001c0001t0065g0258a0002c0002t0003g0100 | 2 | 320 | 0.0063 | 25 | c.141 others(44): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11317612 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0074 | 1 | 320 | 0.0031 | 25 | c.141 others(44): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11317613 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 320 | 0.0031 | 25 | c.141 others(44): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 1/32 | chr2 | TogoVar | ||||||
ROPN1_chr3_123964015_123997124 | 123986018 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG01358.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0010a0001c0002t0001g0017others(9): Show | 25 | 416 | 0.0601 | 25 | c.-12 others(42): Show |
ROPN1 | ENSG00000065371.18 | transcript | ENST00000405845.8 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
ROR2_chr9_91717601_91955228 | 91836539 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03139.hp2 NA20905.hp1 |
a0001a0006 | a0001c0005a0006c0011 | a0001c0005t0003a0006c0011t0001 | a0001c0005t0003g0148a0006c0011t0001g0209 | 2 | 226 | 0.0089 | 25 | c.98- others(42): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60517110 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0114 | 1 | 118 | 0.0085 | 25 | c.283 others(42): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60816734 | T | TAAATAAA others(18): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0006g0056a0001c0001t0012g0090a0001c0001t0013g0072others(4): Show | 7 | 118 | 0.0593 | 25 | c.167 others(46): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60943916 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 | 1 | 118 | 0.0085 | 25 | c.167 others(46): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60991906 | A | AAAAATAA others(18): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0049a0001c0002t0021 | a0001c0001t0049g0003a0001c0002t0021g0018 | 2 | 118 | 0.0170 | 25 | c.166 others(46): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 61071272 | G | GGAGGGGA others(18): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0026 | 1 | 118 | 0.0085 | 25 | c.166 others(46): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 61071322 | A | AGAGGGGA others(18): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03139.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0013a0001c0005t0004 | a0001c0001t0013g0072a0001c0005t0004g0027 | 2 | 118 | 0.0170 | 25 | c.166 others(46): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 1/10 | chr15 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7678938 | T | TATATTTA others(18): Show |
intron_variant | MODIFIER | HG02698.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033 | 2 | 308 | 0.0065 | 25 | c.-75 others(44): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPAP2_chr1_92294059_92407056 | 92305432 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0016 | a0001c0016t0020 | a0001c0016t0020g0135 | 1 | 192 | 0.0052 | 25 | c.399 others(42): Show |
RPAP2 | ENSG00000122484.9 | transcript | ENST00000610020.2 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPGRIP1L_chr16_53593153_53708859 | 53617073 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01192.hp2 HG01515.hp1 others(5): Show |
a0002 | a0002c0002a0002c0020 | a0002c0002t0001a0002c0020t0001 | a0002c0002t0001g0149a0002c0002t0001g0164a0002c0002t0001g0171others(5): Show | 8 | 364 | 0.0220 | 25 | c.361 others(44): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 24/26 | chr16 | TogoVar | ||||||
RPGRIP1_chr14_21275083_21356301 | 21275949 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0028 | a0028c0022 | a0028c0022t0001 | a0028c0022t0001g0301 | 1 | 332 | 0.0030 | 25 | c.-42 others(36): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 4133 | chr14 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 295139 | A | ACAGAGGA others(18): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0129 | 1 | 133 | 0.0075 | 25 | c.352 others(44): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 320013 | G | GACTGAGG others(18): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0123 | 1 | 133 | 0.0075 | 25 | c.222 others(40): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 4/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 320015 | T | CTGAGGGG others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01070.hp1 others(7): Show |
a0001a0004a0005 | a0001c0001a0004c0007a0005c0010 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0086a0001c0001t0001g0133a0001c0001t0003g0098others(7): Show | 10 | 133 | 0.0752 | 25 | c.222 others(40): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 4/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 320100 | A | AGAGGGGG others(18): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0036 | a0001c0001t0006g0095a0001c0003t0036g0064 | 2 | 133 | 0.0150 | 25 | c.222 others(40): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 4/9 | chr17 | TogoVar | ||||||
RPH3A_chr12_112786748_112903881 | 112841173 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02683.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0078a0001c0003t0043 | a0001c0001t0078g0058a0001c0003t0043g0088 | 2 | 266 | 0.0075 | 25 | c.83+ others(40): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RPL10_chrX_154393377_154407332 | 154396712 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0006 | 1 | 276 | 0.0036 | 25 | c.-17 others(36): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | ||||||
RPL13_chr16_89555682_89569542 | 89565283 | G | GTGGGCTG others(18): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG01255.hp1 HG01517.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0017 | a0001c0002t0002g0002a0001c0002t0002g0029a0001c0002t0017g0002 | 7 | 386 | 0.0181 | 25 | c.*22 others(36): Show |
RPL13 | ENSG00000167526.14 | transcript | ENST00000311528.10 | protein_coding | 742 | chr16 | TogoVar | ||||||
RPL14_chr3_40452339_40473587 | 40455762 | T | TGAGGCAG others(18): Show |
upstream_gene_variant | MODIFIER | NA18956.hp2 NA18973.hp2 NA19079.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0090a0002c0002t0109 | a0002c0002t0004g0002a0002c0002t0090g0005a0002c0002t0109g0004 | 4 | 418 | 0.0096 | 25 | c.-17 others(36): Show |
RPL14 | ENSG00000188846.14 | transcript | ENST00000396203.7 | protein_coding | 1576 | chr3 | TogoVar | ||||||
RPL14_chr3_40452339_40473587 | 40471504 | A | ACCATGTT others(18): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0007 | a0007c0007 | a0007c0007t0020 | a0007c0007t0020g0032 | 1 | 418 | 0.0024 | 25 | c.*92 others(36): Show |
RPL14 | ENSG00000188846.14 | transcript | ENST00000396203.7 | protein_coding | 2918 | chr3 | TogoVar | ||||||
RPL18_chr19_48610331_48624178 | 48616643 | C | CCAGCACA others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01433.hp1 HG02027.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0035 | 7 | 382 | 0.0183 | 25 | c.297 others(38): Show |
RPL18 | ENSG00000063177.13 | transcript | ENST00000549920.6 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
RPL23_chr17_38842860_38858721 | 38845112 | G | GTTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 1 | 418 | 0.0024 | 25 | c.*50 others(36): Show |
RPL23 | ENSG00000125691.14 | transcript | ENST00000479035.7 | protein_coding | 2747 | chr17 | TogoVar | ||||||
RPL24_chr3_101676091_101691718 | 101684776 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03209.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0104a0001c0001t0001g0110 | 3 | 444 | 0.0068 | 25 | c.192 others(42): Show |
RPL24 | ENSG00000114391.14 | transcript | ENST00000394077.8 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
RPL26_chr17_8372516_8388193 | 8374937 | C | CAAAAAAA others(18): Show |
downstream_gene_variant | MODIFIER | NA19062.hp2 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | 25 | c.*26 others(36): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 2578 | chr17 | TogoVar | ||||||
RPL30_chr8_98036721_98050545 | 98037419 | T | TATATATA others(18): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 448 | 0.0022 | 25 | c.*43 others(36): Show |
RPL30 | ENSG00000156482.11 | transcript | ENST00000287038.8 | protein_coding | 4301 | chr8 | TogoVar | ||||||
RPL39L_chr3_187115948_187144496 | 187134483 | T | TAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01261.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064a0001c0001t0003g0066 | 2 | 400 | 0.0050 | 25 | c.-93 others(42): Show |
RPL39L | ENSG00000163923.10 | transcript | ENST00000296277.9 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
RPN2_chr20_37174330_37246619 | 37187501 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0110 | 1 | 346 | 0.0029 | 25 | c.207 others(42): Show |
RPN2 | ENSG00000118705.18 | transcript | ENST00000237530.11 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPRD1B_chr20_38028746_38097364 | 38039407 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02145.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0330a0001c0002t0005g0331 | 2 | 384 | 0.0052 | 25 | c.152 others(42): Show |
RPRD1B | ENSG00000101413.12 | transcript | ENST00000373433.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPRD1B_chr20_38028746_38097364 | 38081181 | A | ATTTTTCC others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(99): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0219a0001c0001t0001g0264a0001c0001t0001g0265others(78): Show | 102 | 384 | 0.2656 | 25 | c.832 others(42): Show |
RPRD1B | ENSG00000101413.12 | transcript | ENST00000373433.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPRD2_chr1_150359147_150481566 | 150431473 | A | ATTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02735.hp2 NA18612.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0018others(1): Show | a0001c0001t0001g0087a0001c0001t0006g0310a0001c0001t0018g0066others(1): Show | 4 | 318 | 0.0126 | 25 | c.336 others(42): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPS10_chr6_34412454_34431069 | 34427078 | T | TAAAAAAA others(18): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 2 | 390 | 0.0051 | 25 | c.-10 others(36): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 1010 | chr6 | TogoVar | ||||||
RPS27L_chr15_63143249_63162477 | 63146250 | A | ATTTTAAC others(18): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02257.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027a0001c0001t0036others(4): Show | a0001c0001t0026g0041a0001c0001t0027g0042a0001c0001t0036g0043others(4): Show | 10 | 430 | 0.0233 | 25 | c.*77 others(36): Show |
RPS27L | ENSG00000185088.14 | transcript | ENST00000330964.10 | protein_coding | 1998 | chr15 | TogoVar | ||||||
RPS27L_chr15_63143249_63162477 | 63146250 | A | ATTTTAAC others(18): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(105): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0020a0001c0001t0001g0025others(29): Show | 108 | 430 | 0.2512 | 25 | c.*77 others(36): Show |
RPS27L | ENSG00000185088.14 | transcript | ENST00000330964.10 | protein_coding | 1998 | chr15 | TogoVar | ||||||
RPS3A_chr4_151094628_151109642 | 151097444 | T | TATATATA others(18): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 390 | 0.0026 | 25 | c.-22 others(36): Show |
RPS3A | ENSG00000145425.10 | transcript | ENST00000274065.9 | protein_coding | 2183 | chr4 | TogoVar | ||||||
RPS6KA1_chr1_26524761_26580025 | 26557777 | T | TCCTCCCC others(18): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0211 | 1 | 330 | 0.0030 | 25 | c.108 others(42): Show |
RPS6KA1 | ENSG00000117676.14 | transcript | ENST00000374168.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPS6KA1_chr1_26524761_26580025 | 26565543 | T | TTTTTCTT others(18): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03139.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(1): Show | 4 | 330 | 0.0121 | 25 | c.159 others(44): Show |
RPS6KA1 | ENSG00000117676.14 | transcript | ENST00000374168.7 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPS6KA2_chr6_166404364_166632251 | 166480477 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19087.hp1 |
a0001 | a0001c0005a0001c0011 | a0001c0005t0003a0001c0011t0039 | a0001c0005t0003g0132a0001c0011t0039g0215 | 2 | 244 | 0.0082 | 25 | c.907 others(42): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | ||||||
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0101 | 1 | 330 | 0.0030 | 25 | c.472 others(40): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RPSA2_chr19_23758004_23833868 | 23780640 | C | CAAACAAA others(18): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0104 | a0001c0001t0023g0349a0001c0001t0023g0350a0001c0001t0023g0352others(1): Show | 4 | 366 | 0.0109 | 25 | c.-30 others(46): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RPSA2_chr19_23758004_23833868 | 23805023 | T | TTAACGAC others(18): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0194 | 1 | 366 | 0.0027 | 25 | c.-30 others(44): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RPSA2_chr19_23758004_23833868 | 23805023 | T | TTAAGGAC others(18): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(339): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(144): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0247others(336): Show | 342 | 366 | 0.9344 | 25 | c.-30 others(44): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80617987 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03041.hp2 HG03195.hp2 |
a0001a0002 | a0001c0007a0001c0008a0002c0063 | a0001c0007t0084a0001c0008t0036a0002c0063t0020 | a0001c0007t0084g0007a0001c0008t0036g0002a0002c0063t0020g0001 | 3 | 196 | 0.0153 | 25 | c.163 others(42): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 1/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |