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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPE65_chr1_68423822_68454954 | 68452696 | C | CGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01358.hp2 HG01515.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0002a0001c0001t0003a0004c0009t0007 | a0001c0001t0002g0067 a0001c0001t0003g0009 a0001c0001t0003g0032 others(4): Show |
13 | 456 | 0.0285 | 22 | c.-27 others(33): Show |
RPE65 | ENSG00000116745.7 | transcript | ENST00000262340.6 | protein_coding | 2743 | chr1 | TogoVar | |||||||
RPF2_chr6_110977038_111033263 | 110994727 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 360 | 0.0028 | 22 | c.235 others(39): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPF2_chr6_110977038_111033263 | 110994734 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0323 | 1 | 360 | 0.0028 | 22 | c.235 others(39): Show |
RPF2 | ENSG00000197498.13 | transcript | ENST00000441448.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RPGRIP1L_chr16_53593153_53708859 | 53617073 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0342 | 1 | 364 | 0.0028 | 22 | c.361 others(41): Show |
RPGRIP1L | ENSG00000103494.16 | transcript | ENST00000647211.2 | protein_coding | 24/26 | chr16 | TogoVar | |||||||
RPGRIP1_chr14_21275083_21356301 | 21304389 | G | GAGAGAAA others(15): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 332 | 0.0030 | 22 | c.800 others(37): Show |
RPGRIP1 | ENSG00000092200.13 | transcript | ENST00000400017.7 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPGR_chrX_38279408_38332509 | 38332504 | T | TTATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01074.hp1 others(12): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0002g0209 a0001c0001t0004g0191 a0001c0001t0004g0192 others(9): Show |
15 | 302 | 0.0497 | 22 | c.-51 others(33): Show |
RPGR | ENSG00000156313.15 | transcript | ENST00000645032.1 | protein_coding | 4996 | chrX | TogoVar | |||||||
RPH3A_chr12_112786748_112903881 | 112791867 | G | GGAGAGAG others(15): Show |
5_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG02559.hp1 others(6): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0009 | a0001c0001t0024a0001c0001t0102a0001c0001t0103others(5): Show | a0001c0001t0024g0218 a0001c0001t0102g0219 a0001c0001t0103g0205 others(6): Show |
9 | 266 | 0.0338 | 22 | c.-26 others(31): Show |
RPH3A | ENSG00000089169.15 | transcript | ENST00000389385.9 | protein_coding | 1/22 | 36413 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
RPH3A_chr12_112786748_112903881 | 112841173 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01943.hp1 NA18978.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0001t0145a0001c0003t0054others(1): Show | a0001c0001t0017g0230 a0001c0001t0145g0027 a0001c0003t0054g0043 others(1): Show |
4 | 266 | 0.0150 | 22 | c.83+ others(37): 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(15): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0007 | 1 | 276 | 0.0036 | 22 | c.-17 others(33): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 1664 | chrX | TogoVar | |||||||
RPL13A_chr19_49482608_49497308 | 49493834 | A | ATTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 HG00673.hp2 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0009 others(7): Show |
14 | 338 | 0.0414 | 22 | c.*20 others(33): Show |
RPL13A | ENSG00000142541.18 | transcript | ENST00000391857.9 | protein_coding | 1527 | chr19 | TogoVar | |||||||
RPL21_chr13_27246558_27261568 | 27256929 | G | GGCTGTCA others(15): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | 22 | c.*40 others(31): Show |
RPL21 | ENSG00000122026.11 | transcript | ENST00000311549.11 | protein_coding | 362 | chr13 | TogoVar | |||||||
RPL22_chr1_6180020_6204595 | 6187550 | G | GCTGCAGT others(15): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0123 | 1 | 372 | 0.0027 | 22 | c.243 others(37): Show |
RPL22 | ENSG00000116251.11 | transcript | ENST00000234875.9 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
RPL23_chr17_38842860_38858721 | 38845112 | G | GTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0007 | 2 | 418 | 0.0048 | 22 | c.*50 others(33): Show |
RPL23 | ENSG00000125691.14 | transcript | ENST00000479035.7 | protein_coding | 2747 | chr17 | TogoVar | |||||||
RPL24_chr3_101676091_101691718 | 101684776 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02071.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0170 |
2 | 444 | 0.0045 | 22 | c.192 others(39): Show |
RPL24 | ENSG00000114391.14 | transcript | ENST00000394077.8 | protein_coding | 3/5 | chr3 | TogoVar | |||||||
RPL26_chr17_8372516_8388193 | 8374937 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 HG01891.hp2 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 422 | 0.0071 | 22 | c.*26 others(33): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 2578 | chr17 | TogoVar | |||||||
RPL26_chr17_8372516_8388193 | 8384050 | C | CGTGTGTG others(15): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | 22 | c.-90 others(31): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 858 | chr17 | TogoVar | |||||||
RPL27_chr17_42993419_43007959 | 43007847 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0016 a0001c0001t0002g0012 |
6 | 356 | 0.0169 | 22 | c.*49 others(33): Show |
RPL27 | ENSG00000131469.15 | transcript | ENST00000253788.12 | protein_coding | 4889 | chr17 | TogoVar | |||||||
RPL27_chr17_42993419_43007959 | 43007847 | T | TTTTATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02735.hp1 NA18946.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0044 |
4 | 356 | 0.0112 | 22 | c.*49 others(33): Show |
RPL27 | ENSG00000131469.15 | transcript | ENST00000253788.12 | protein_coding | 4889 | chr17 | TogoVar | |||||||
RPL28_chr19_55380932_55397085 | 55391848 | G | GTTTCCCA others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0001 | 1 | 314 | 0.0032 | 22 | c.*35 others(33): Show |
RPL28 | ENSG00000108107.15 | transcript | ENST00000344063.7 | protein_coding | 5/5 | 3540 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RPL30_chr8_98036721_98050545 | 98037382 | C | CTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0035 |
2 | 448 | 0.0045 | 22 | c.*44 others(33): Show |
RPL30 | ENSG00000156482.11 | transcript | ENST00000287038.8 | protein_coding | 4338 | chr8 | TogoVar | |||||||
RPL30_chr8_98036721_98050545 | 98037392 | G | GTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG01515.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
5 | 448 | 0.0112 | 22 | c.*43 others(33): Show |
RPL30 | ENSG00000156482.11 | transcript | ENST00000287038.8 | protein_coding | 4328 | chr8 | TogoVar | |||||||
RPL36_chr19_5685295_5696875 | 5694638 | C | CGGGCGCG others(15): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01070.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0005g0001 |
12 | 394 | 0.0305 | 22 | c.*30 others(33): Show |
RPL36 | ENSG00000130255.13 | transcript | ENST00000347512.8 | protein_coding | 2764 | chr19 | TogoVar | |||||||
RPL38_chr17_74198678_74215655 | 74199262 | G | GAGAGAGA others(15): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0070 | 1 | 446 | 0.0022 | 22 | c.-45 others(33): Show |
RPL38 | ENSG00000172809.13 | transcript | ENST00000311111.11 | protein_coding | 4415 | chr17 | TogoVar | |||||||
RPL39L_chr3_187115948_187144496 | 187134483 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02145.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 a0001c0001t0003g0063 |
4 | 400 | 0.0100 | 22 | c.-93 others(39): Show |
RPL39L | ENSG00000163923.10 | transcript | ENST00000296277.9 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
RPL39L_chr3_187115948_187144496 | 187134483 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 400 | 0.0025 | 22 | c.-93 others(39): Show |
RPL39L | ENSG00000163923.10 | transcript | ENST00000296277.9 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
RPL39L_chr3_187115948_187144496 | 187134496 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 400 | 0.0025 | 22 | c.-93 others(39): Show |
RPL39L | ENSG00000163923.10 | transcript | ENST00000296277.9 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
RPP25_chr15_74949418_74961772 | 74950068 | A | ATTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 22 | c.*59 others(33): Show |
RPP25 | ENSG00000178718.7 | transcript | ENST00000322177.6 | protein_coding | 4349 | chr15 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008571 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0019a0001c0004t0002 | a0001c0001t0002g0066 a0001c0001t0002g0079 a0001c0001t0019g0065 others(2): Show |
5 | 318 | 0.0157 | 22 | c.790 others(41): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008575 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 a0001c0001t0003g0095 |
2 | 318 | 0.0063 | 22 | c.790 others(41): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015 | a0001c0001t0014g0259 a0001c0001t0015g0085 |
2 | 318 | 0.0063 | 22 | c.790 others(41): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0293 a0001c0001t0010g0206 |
2 | 318 | 0.0063 | 22 | c.790 others(41): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1A_chr18_35984824_36072559 | 36008577 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0241 |
2 | 318 | 0.0063 | 22 | c.790 others(41): Show |
RPRD1A | ENSG00000141425.18 | transcript | ENST00000399022.9 | protein_coding | 6/6 | chr18 | TogoVar | |||||||
RPRD1B_chr20_38028746_38097364 | 38030528 | A | AACACACA others(15): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0330 | 1 | 384 | 0.0026 | 22 | c.-34 others(33): Show |
RPRD1B | ENSG00000101413.12 | transcript | ENST00000373433.9 | protein_coding | 3217 | chr20 | TogoVar | |||||||
RPRD1B_chr20_38028746_38097364 | 38039407 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0329 | 1 | 384 | 0.0026 | 22 | c.152 others(39): Show |
RPRD1B | ENSG00000101413.12 | transcript | ENST00000373433.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RPRD2_chr1_150359147_150481566 | 150395365 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0186 | 1 | 318 | 0.0031 | 22 | c.206 others(41): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPRD2_chr1_150359147_150481566 | 150431473 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02723.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0049 | a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0085 others(2): Show |
5 | 318 | 0.0157 | 22 | c.336 others(39): Show |
RPRD2 | ENSG00000163125.16 | transcript | ENST00000369068.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPRML_chr17_46973156_46984253 | 46980666 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG03927.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 452 | 0.0044 | 22 | c.-16 others(33): Show |
RPRML | ENSG00000179673.5 | transcript | ENST00000322329.5 | protein_coding | 1414 | chr17 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34424140 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 390 | 0.0026 | 22 | c.322 others(37): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
RPS10_chr6_34412454_34431069 | 34427078 | T | TAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 a0001c0001t0002g0063 a0001c0001t0002g0077 |
4 | 390 | 0.0103 | 22 | c.-10 others(33): Show |
RPS10 | ENSG00000124614.17 | transcript | ENST00000648437.1 | protein_coding | 1010 | chr6 | TogoVar | |||||||
RPS11_chr19_49491434_49504708 | 49493834 | A | ATTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01891.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0023 |
16 | 352 | 0.0455 | 22 | c.-26 others(33): Show |
RPS11 | ENSG00000142534.7 | transcript | ENST00000270625.7 | protein_coding | 2599 | chr19 | TogoVar | |||||||
RPS17_chr15_82531750_82545457 | 82535087 | G | GTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 455 | 0.0022 | 22 | c.*17 others(33): Show |
RPS17 | ENSG00000182774.13 | transcript | ENST00000647841.1 | protein_coding | 1662 | chr15 | TogoVar | |||||||
RPS24_chr10_78028863_78045697 | 78030446 | C | CTATATAT others(15): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0068 |
2 | 430 | 0.0047 | 22 | c.-34 others(33): Show |
RPS24 | ENSG00000138326.21 | transcript | ENST00000372360.9 | protein_coding | 3416 | chr10 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166480479 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0038 | a0001c0038t0018 | a0001c0038t0018g0002 | 1 | 244 | 0.0041 | 22 | c.907 others(39): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166480514 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0044 | a0001c0044t0013 | a0001c0044t0013g0019 | 1 | 244 | 0.0041 | 22 | c.907 others(39): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166480514 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0240 | 1 | 244 | 0.0041 | 22 | c.907 others(39): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 10/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166510554 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0109 | 1 | 244 | 0.0041 | 22 | c.299 others(37): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
RPS6KA2_chr6_166404364_166632251 | 166517450 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0232 | 1 | 244 | 0.0041 | 22 | c.299 others(39): Show |
RPS6KA2 | ENSG00000071242.12 | transcript | ENST00000265678.9 | protein_coding | 3/20 | chr6 | TogoVar | |||||||
RPS6KA6_chrX_84053350_84193199 | 84140758 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01256.hp1 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0009a0002c0002t0022others(4): Show | a0002c0002t0003g0003 a0002c0002t0003g0053 a0002c0002t0003g0054 others(16): Show |
20 | 272 | 0.0735 | 22 | c.501 others(39): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 6/21 | chrX | TogoVar | |||||||
RPS6KB2_chr11_67423494_67440401 | 67424861 | C | CCACACAC others(15): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 a0002c0002t0002g0005 |
2 | 378 | 0.0053 | 22 | c.-36 others(33): Show |
RPS6KB2 | ENSG00000175634.15 | transcript | ENST00000312629.10 | protein_coding | 3632 | chr11 | TogoVar | |||||||
RPS6KC1_chr1_213046241_213279774 | 213118021 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0041 a0001c0001t0001g0218 a0001c0001t0003g0317 |
3 | 330 | 0.0091 | 22 | c.472 others(37): Show |
RPS6KC1 | ENSG00000136643.12 | transcript | ENST00000366960.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |