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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTL4_chrX_112078016_112462514 | 112226989 | C | CAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00642.hp1 others(90): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0011others(17): Show | a0001c0002t0002g0001 a0001c0002t0002g0002 a0001c0002t0002g0004 others(90): Show |
93 | 134 | 0.6940 | 5 | c.-44 others(26): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112250287 | A | AAAAAG | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0043 | 1 | 134 | 0.0075 | 5 | c.-44 others(26): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112305329 | G | GTATTT | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG02486.hp1 others(2): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0007a0001c0003t0003a0001c0003t0005others(2): Show | a0001c0002t0007g0128 a0001c0003t0003g0013 a0001c0003t0005g0117 others(2): Show |
5 | 134 | 0.0373 | 5 | c.-44 others(24): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310415 | T | TATATA | intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0026 | 1 | 134 | 0.0075 | 5 | c.-28 others(24): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | chrX | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112380150 | A | ATTTTT | intron_variant | MODIFIER | HG01106.hp1 HG03471.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0002a0002c0001t0001 | a0001c0003t0002g0012 a0002c0001t0001g0014 |
2 | 134 | 0.0149 | 5 | c.-28 others(26): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112390142 | T | TATATA | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0101 | 1 | 134 | 0.0075 | 5 | c.-28 others(26): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112393157 | T | TTTTTG | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0013 | 1 | 134 | 0.0075 | 5 | c.-28 others(26): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112393170 | T | TGTTTG | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG02055.hp1 others(9): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0019others(5): Show | a0001c0002t0002g0025 a0001c0002t0002g0027 a0001c0002t0002g0109 others(9): Show |
12 | 134 | 0.0896 | 5 | c.-28 others(26): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | chrX | TogoVar | |||||||
RTL8A_chrX_135045932_135057135 | 135053298 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 318 | 0.0157 | 5 | c.-11 others(16): Show |
RTL8A | ENSG00000203950.7 | transcript | ENST00000370775.3 | protein_coding | 1164 | chrX | TogoVar | |||||||
RTL8A_chrX_135045932_135057135 | 135053323 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00408.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 318 | 0.0063 | 5 | c.-12 others(16): Show |
RTL8A | ENSG00000203950.7 | transcript | ENST00000370775.3 | protein_coding | 1189 | chrX | TogoVar | |||||||
RTL8A_chrX_135045932_135057135 | 135053325 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 318 | 0.0031 | 5 | c.-12 others(16): Show |
RTL8A | ENSG00000203950.7 | transcript | ENST00000370775.3 | protein_coding | 1191 | chrX | TogoVar | |||||||
RTL9_chrX_110353848_110461334 | 110378008 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG03209.hp1 others(2): Show |
a0001a0009 | a0001c0002a0009c0008 | a0001c0002t0002a0009c0008t0002 | a0001c0002t0002g0137 a0001c0002t0002g0139 a0001c0002t0002g0148 others(2): Show |
5 | 165 | 0.0303 | 5 | c.-16 others(26): Show |
RTL9 | ENSG00000243978.9 | transcript | ENST00000520821.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL9_chrX_110353848_110461334 | 110433162 | A | AGTGCT | intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 165 | 0.0061 | 5 | c.-16 others(26): Show |
RTL9 | ENSG00000243978.9 | transcript | ENST00000520821.6 | protein_coding | 1/3 | chrX | TogoVar | |||||||
RTL9_chrX_110353848_110461334 | 110447111 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02622.hp1 others(12): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0005others(2): Show | a0001c0001t0003g0083 a0001c0001t0003g0121 a0001c0001t0003g0159 others(12): Show |
15 | 165 | 0.0909 | 5 | c.-52 others(22): Show |
RTL9 | ENSG00000243978.9 | transcript | ENST00000520821.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59716989 | A | ACAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(65): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(65): Show |
68 | 172 | 0.3954 | 5 | c.176 others(24): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 3/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59748210 | G | GTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(40): Show |
43 | 172 | 0.2500 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59749993 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(77): Show |
80 | 172 | 0.4651 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750231 | T | TATATA | intron_variant | MODIFIER | HG02080.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0051 |
2 | 172 | 0.0116 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750346 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(75): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0028 others(75): Show |
78 | 172 | 0.4535 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750347 | T | TATATA | intron_variant | MODIFIER | HG01358.hp1 HG03195.hp2 HG03540.hp1 others(3): Show |
a0002a0008 | a0002c0002a0008c0010 | a0002c0002t0001a0002c0002t0004a0008c0010t0001 | a0002c0002t0001g0109 a0002c0002t0001g0163 a0002c0002t0004g0029 others(3): Show |
6 | 172 | 0.0349 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750347 | T | TCTATA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0031 a0001c0001t0001g0039 a0001c0001t0001g0056 others(10): Show |
13 | 172 | 0.0756 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750359 | C | CTATAA | intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0069 |
2 | 172 | 0.0116 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59750457 | A | ATATAT | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01981.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 others(4): Show |
7 | 172 | 0.0407 | 5 | c.242 others(22): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106566464 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02809.hp2 others(19): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0004a0001c0003t0007a0001c0003t0012others(1): Show | a0001c0003t0004g0012 a0001c0003t0004g0143 a0001c0003t0004g0154 others(18): Show |
22 | 396 | 0.0556 | 5 | c.*55 others(16): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 4306 | chr6 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106577447 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02451.hp2 others(15): Show |
a0001 | a0001c0003a0001c0005a0001c0009 | a0001c0003t0004a0001c0003t0007a0001c0005t0009others(1): Show | a0001c0003t0004g0142 a0001c0003t0004g0159 a0001c0003t0004g0168 others(15): Show |
18 | 396 | 0.0455 | 5 | c.108 others(24): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 8/8 | chr6 | TogoVar | |||||||
RTN4IP1_chr6_106565771_106634498 | 106590714 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp2 HG01175.hp1 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0001g0267 others(21): Show |
24 | 396 | 0.0606 | 5 | c.806 others(22): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1969058 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(30): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0064 a0001c0001t0002g0186 a0001c0001t0003g0010 others(30): Show |
33 | 384 | 0.0859 | 5 | c.14- others(22): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1981140 | T | TTGTCC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00735.hp1 others(65): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0002g0064 others(65): Show |
68 | 384 | 0.1771 | 5 | c.14- others(22): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1982308 | A | AAAGAG | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0002t0004a0001c0002t0039others(4): Show | a0001c0001t0025g0004 a0001c0001t0025g0005 a0001c0002t0004g0044 others(7): Show |
10 | 384 | 0.0260 | 5 | c.13+ others(22): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 1982613 | C | CAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(46): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0124 a0001c0001t0001g0294 a0001c0001t0002g0027 others(46): Show |
49 | 384 | 0.1276 | 5 | c.13+ others(22): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 2006620 | A | ATTTGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0138 others(149): Show |
152 | 384 | 0.3958 | 5 | c.13+ others(22): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 2026912 | G | GGCTGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(123): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(123): Show |
126 | 384 | 0.3281 | 5 | c.-20 others(16): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1579 | chr17 | TogoVar | |||||||
RTN4RL2_chr11_57455528_57482534 | 57478823 | T | TAAAAA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0002t0001g0025 a0001c0002t0001g0046 others(1): Show |
7 | 348 | 0.0201 | 5 | c.*19 others(16): Show |
RTN4RL2 | ENSG00000186907.8 | transcript | ENST00000335099.8 | protein_coding | 1290 | chr11 | TogoVar | |||||||
RTN4_chr2_54967189_55055451 | 54972905 | A | ATAGAT | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG03834.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0272 a0001c0001t0010g0274 a0001c0001t0010g0275 |
3 | 350 | 0.0086 | 5 | c.*24 others(14): Show |
RTN4 | ENSG00000115310.19 | transcript | ENST00000337526.11 | protein_coding | 9/9 | 250 | chr2 | TogoVar | ||||||
RTN4_chr2_54967189_55055451 | 55008142 | A | ACACAC | intron_variant | MODIFIER | HG02165.hp2 HG02615.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0269 a0001c0001t0002g0072 a0001c0001t0004g0081 |
3 | 350 | 0.0086 | 5 | c.301 others(26): Show |
RTN4 | ENSG00000115310.19 | transcript | ENST00000337526.11 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
RTN4_chr2_54967189_55055451 | 55050289 | C | CTCGGA | frameshift_variant | HIGH | NA19030.hp2 | a0018 | a0018c0029 | a0018c0029t0016 | a0018c0029t0016g0012 | 1 | 350 | 0.0029 | 5 | c.11_ others(10): Show |
p.Asp others(3): Show |
RTN4 | ENSG00000115310.19 | transcript | ENST00000337526.11 | protein_coding | 1/9 | 162/4697 | 11/3579 | 4/1192 | chr2 | TogoVar | |||
RTP1_chr3_187192486_187206462 | 187204284 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG01256.hp1 HG02280.hp1 HG02615.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0012 | a0001c0001t0002g0001 a0002c0002t0012g0001 |
9 | 446 | 0.0202 | 5 | c.*42 others(16): Show |
RTP1 | ENSG00000175077.6 | transcript | ENST00000312295.5 | protein_coding | 2823 | chr3 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241865260 | T | TGTGTG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(87): Show |
a0002a0011a0028 | a0002c0002a0011c0012a0028c0018 | a0002c0002t0001a0002c0002t0010a0002c0002t0015others(9): Show | a0002c0002t0001g0002 a0002c0002t0001g0013 a0002c0002t0001g0014 others(16): Show |
90 | 365 | 0.2466 | 5 | c.-44 others(16): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4468 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241876028 | C | CTCTTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(215): Show |
a0001a0003a0004others(18): Show | a0001c0001a0001c0010a0001c0023others(21): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(38): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 others(58): Show |
218 | 365 | 0.5973 | 5 | c.*27 others(16): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 2206 | chr2 | TogoVar | |||||||
RTP5_chr2_241864729_241878823 | 241878107 | G | GCCGCC | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00639.hp2 others(66): Show |
a0002a0028 | a0002c0002a0028c0018 | a0002c0002t0001a0002c0002t0010a0002c0002t0015others(6): Show | a0002c0002t0001g0002 a0002c0002t0001g0014 a0002c0002t0001g0023 others(10): Show |
69 | 365 | 0.1890 | 5 | c.*48 others(16): Show |
RTP5 | ENSG00000188011.5 | transcript | ENST00000343216.3 | protein_coding | 4285 | chr2 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70063965 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01106.hp1 others(10): Show |
a0001a0002a0004 | a0001c0006a0001c0011a0002c0001others(2): Show | a0001c0006t0001a0001c0006t0020a0001c0006t0021others(4): Show | a0001c0006t0001g0001 a0001c0006t0001g0123 a0001c0006t0001g0124 others(9): Show |
13 | 156 | 0.0833 | 5 | c.474 others(24): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 35/48 | chr18 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70080118 | C | CATATT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00621.hp1 others(127): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0005a0001c0006others(22): Show | a0001c0002t0004a0001c0005t0001a0001c0005t0002others(42): Show | a0001c0002t0004g0108 a0001c0002t0004g0121 a0001c0002t0004g0153 others(126): Show |
130 | 156 | 0.8333 | 5 | c.437 others(24): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 32/48 | chr18 | TogoVar | |||||||
RTTN_chr18_69998031_70210687 | 70162815 | A | AAACCC | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0145 a0001c0007t0001g0146 a0001c0007t0001g0147 others(3): Show |
6 | 156 | 0.0385 | 5 | c.192 others(24): Show |
RTTN | ENSG00000176225.15 | transcript | ENST00000640769.2 | protein_coding | 14/48 | chr18 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46351828 | C | CTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01361.hp1 HG02738.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0299 a0001c0001t0003g0227 a0001c0001t0003g0241 others(6): Show |
9 | 356 | 0.0253 | 5 | c.133 others(24): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 10/14 | chr13 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179577159 | C | CTTTTT | intron_variant | MODIFIER | HG01071.hp1 HG02109.hp2 HG02615.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0013 | a0001c0001t0001a0001c0004t0003a0005c0013t0003 | a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0208 others(4): Show |
7 | 376 | 0.0186 | 5 | c.890 others(18): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179579657 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02922.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0004a0004c0014t0004 | a0001c0001t0004g0198 a0001c0001t0004g0218 a0001c0001t0004g0219 others(6): Show |
9 | 376 | 0.0239 | 5 | c.891 others(22): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179580246 | T | TATATA | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0285 others(15): Show |
18 | 376 | 0.0479 | 5 | c.891 others(20): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | chr5 | TogoVar | |||||||
RUFY1_chr5_179545554_179615012 | 179587382 | C | CTTTCT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02630.hp1 others(16): Show |
a0001a0004 | a0001c0001a0004c0014 | a0001c0001t0004a0004c0014t0004 | a0001c0001t0004g0010 a0001c0001t0004g0020 a0001c0001t0004g0028 others(16): Show |
19 | 376 | 0.0505 | 5 | c.102 others(24): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179609206 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01517.hp1 HG02723.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0003t0002a0001c0005t0002 | a0001c0001t0002g0098 a0001c0001t0002g0266 a0001c0001t0002g0283 others(8): Show |
11 | 376 | 0.0293 | 5 | c.198 others(22): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUNDC1_chr17_42975565_43000142 | 42978077 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02280.hp1 HG02976.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0021 | a0001c0001t0001g0001 a0001c0001t0003g0006 a0001c0001t0003g0069 others(4): Show |
10 | 332 | 0.0301 | 5 | c.-25 others(16): Show |
RUNDC1 | ENSG00000198863.8 | transcript | ENST00000361677.6 | protein_coding | 2487 | chr17 | TogoVar |