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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAB8A_chr19_16106889_16139234 | 16115142 | GCCATACG others(20): Show |
G | intron_variant | MODIFIER | HG02622.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | 390 | 0.0051 | -27 | c.125 others(44): Show |
RAB8A | ENSG00000167461.12 | transcript | ENST00000300935.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RABEP1_chr17_5277284_5391340 | 5365316 | TGTTTTTT others(20): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0293a0001c0004t0018g0294 | 2 | 352 | 0.0057 | -27 | c.178 others(43): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174195705 | CTTCTTTC others(20): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0154a0001c0001t0014g0156 | 2 | 272 | 0.0074 | -27 | c.-33 others(46): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1_chr9_122936020_123109866 | 123051216 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | NA18955.hp1 NA19074.hp2 NA19077.hp2 |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0124a0001c0002t0125 | a0001c0002t0005g0040a0001c0002t0124g0050a0001c0002t0125g0039 | 3 | 258 | 0.0116 | -27 | c.179 others(48): Show |
RABGAP1 | ENSG00000011454.18 | transcript | ENST00000373647.9 | protein_coding | 13/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RAC1_chr7_6369527_6408967 | 6407843 | GTTTTTTT others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01175.hp2 others(24): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0010a0001c0001t0015a0001c0001t0017others(9): Show | a0001c0001t0010g0145a0001c0001t0010g0146a0001c0001t0010g0153others(24): Show | 27 | 392 | 0.0689 | -27 | c.*53 others(38): Show |
RAC1 | ENSG00000136238.20 | transcript | ENST00000348035.9 | protein_coding | 3877 | chr7 | TogoVar | ||||||
RAD51D_chr17_35087221_35124860 | 35122180 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0184a0001c0001t0016g0185 | 2 | 416 | 0.0048 | -27 | c.-25 others(38): Show |
RAD51D | ENSG00000185379.21 | transcript | ENST00000345365.11 | protein_coding | 2321 | chr17 | TogoVar | ||||||
RADIL_chr7_4792055_4888716 | 4792351 | TGGCCCCG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 292 | 0.0034 | -27 | c.*70 others(38): Show |
RADIL | ENSG00000157927.17 | transcript | ENST00000399583.4 | protein_coding | 4703 | chr7 | TogoVar | ||||||
RALA_chr7_39618572_39713120 | 39623632 | GTCCTCCT others(20): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0309 | 1 | 366 | 0.0027 | -27 | c.-21 others(36): Show |
RALA | ENSG00000006451.8 | transcript | ENST00000005257.7 | protein_coding | 1/5 | 62997 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
RANBP17_chr5_170857018_171305015 | 170916128 | CATGCGTT others(20): Show |
C | intron_variant | MODIFIER | HG02896.hp2 | a0003 | a0003c0018 | a0003c0018t0002 | a0003c0018t0002g0157 | 1 | 192 | 0.0052 | -27 | c.835 others(42): Show |
RANBP17 | ENSG00000204764.14 | transcript | ENST00000523189.6 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RANBP17_chr5_170857018_171305015 | 170955621 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0105 | 1 | 192 | 0.0052 | -27 | c.157 others(46): Show |
RANBP17 | ENSG00000204764.14 | transcript | ENST00000523189.6 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RANBP9_chr6_13616498_13716835 | 13632118 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 | 1 | 360 | 0.0028 | -27 | c.194 others(44): Show |
RANBP9 | ENSG00000010017.13 | transcript | ENST00000011619.6 | protein_coding | 12/13 | chr6 | TogoVar | ||||||
RAP1B_chr12_68605899_68676901 | 68610815 | GGCCCGCC others(20): Show |
G | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0329 | 1 | 388 | 0.0026 | -27 | c.-25 others(36): Show |
RAP1B | ENSG00000127314.18 | transcript | ENST00000250559.14 | protein_coding | 83 | chr12 | TogoVar | ||||||
RAPGEF2_chr4_159098079_159365173 | 159281392 | GGCATGGT others(20): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0086 | 1 | 194 | 0.0052 | -27 | c.544 others(46): Show |
RAPGEF2 | ENSG00000109756.10 | transcript | ENST00000691494.1 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RAPGEF4_chr2_172730845_173057893 | 172857881 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 178 | 0.0056 | -27 | c.444 others(46): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAPGEF5_chr7_22113236_22362154 | 22272350 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02055.hp2 HG02572.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0023others(3): Show | a0001c0001t0003g0313a0001c0001t0006g0076a0001c0001t0023g0131others(3): Show | 6 | 330 | 0.0182 | -27 | c.748 others(44): Show |
RAPGEF5 | ENSG00000136237.20 | transcript | ENST00000665637.1 | protein_coding | 6/25 | chr7 | TogoVar | ||||||
RAPGEF6_chr5_131418921_131640229 | 131516046 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG01261.hp2 HG03927.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0012a0001c0001t0002g0045a0001c0001t0002g0046others(2): Show | 5 | 324 | 0.0154 | -27 | c.627 others(44): Show |
RAPGEF6 | ENSG00000158987.22 | transcript | ENST00000509018.6 | protein_coding | 7/27 | chr5 | TogoVar | ||||||
RASA1_chr5_87262883_87396916 | 87363153 | AAAACAAG others(20): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 282 | 0.0036 | -27 | c.145 others(44): Show |
RASA1 | ENSG00000145715.15 | transcript | ENST00000274376.11 | protein_coding | 10/24 | chr5 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113984444 | TGTCCATC others(20): Show |
T | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 67 | 0.0149 | -27 | c.224 others(46): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113989257 | TGTCCATC others(20): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0013 | 2 | 67 | 0.0299 | -27 | c.224 others(46): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 22/23 | chr13 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 114108259 | ATCCGTCA others(20): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00639.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(34): Show | 37 | 67 | 0.5522 | -27 | c.55+ others(44): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RASA4B_chr7_102474976_102522777 | 102512625 | GGAGAGAG others(20): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(17): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0022a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(8): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0033others(17): Show | 20 | 59 | 0.3390 | -27 | c.66- others(40): Show |
RASA4B | ENSG00000170667.16 | transcript | ENST00000465829.6 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
RASD2_chr22_35535831_35558999 | 35557735 | TGGGGGTG others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 410 | 0.0024 | -27 | c.*57 others(38): Show |
RASD2 | ENSG00000100302.7 | transcript | ENST00000216127.5 | protein_coding | 3737 | chr22 | TogoVar | ||||||
RAX2_chr19_3764089_3777228 | 3776757 | AGTGGGTG others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | -27 | c.-48 others(38): Show |
RAX2 | ENSG00000173976.16 | transcript | ENST00000555633.3 | protein_coding | 4530 | chr19 | TogoVar | ||||||
RBBP5_chr1_205081142_205126978 | 205093472 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0152 | 1 | 390 | 0.0026 | -27 | c.158 others(46): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
RBBP5_chr1_205081142_205126978 | 205093480 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01192.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0184a0001c0001t0001g0194others(6): Show | 10 | 390 | 0.0256 | -27 | c.158 others(46): Show |
RBBP5 | ENSG00000117222.14 | transcript | ENST00000264515.11 | protein_coding | 13/13 | chr1 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6350444 | GAAAAAAA others(20): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0026a0001c0001t0001g0059a0001c0001t0002g0044others(1): Show | 4 | 68 | 0.0588 | -27 | c.-64 others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6380398 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0055 | 1 | 68 | 0.0147 | -27 | c.-64 others(46): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6459984 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0042 | a0001c0001t0003g0006a0001c0001t0042g0022 | 2 | 68 | 0.0294 | -27 | c.-64 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6478405 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0054 | 1 | 68 | 0.0147 | -27 | c.-64 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6487687 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 68 | 0.0147 | -27 | c.-63 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6487695 | AAAAAAAT others(20): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0043 | a0001c0001t0019g0055a0001c0001t0043g0003 | 2 | 68 | 0.0294 | -27 | c.-63 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6487697 | AAAAATAT others(20): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 68 | 0.0147 | -27 | c.-63 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 6767932 | TAATAATA others(20): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0051 | 1 | 68 | 0.0147 | -27 | c.-16 others(48): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX3_chr17_79084345_79616051 | 79094663 | TCCCCTCC others(20): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 154 | 0.0065 | -27 | c.999 others(42): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 13/14 | chr17 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79499370 | CCATCCAT others(20): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03130.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0006 | a0001c0001t0006g0116a0001c0004t0006g0135 | 2 | 154 | 0.0130 | -27 | c.-31 others(48): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
RBM26_chr13_79313868_79411255 | 79373452 | TAAATATA others(20): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(160): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0075a0001c0001t0002g0006a0001c0001t0002g0007others(154): Show | 163 | 328 | 0.4970 | -27 | c.328 others(44): Show |
RBM26 | ENSG00000139746.16 | transcript | ENST00000438737.3 | protein_coding | 3/21 | chr13 | TogoVar | ||||||
RBM43_chr2_151242940_151266863 | 151246306 | AGATTAAA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(157): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0025others(44): Show | 160 | 420 | 0.3810 | -27 | c.*45 others(38): Show |
RBM43 | ENSG00000184898.7 | transcript | ENST00000331426.6 | protein_coding | 1633 | chr2 | TogoVar | ||||||
RBM45_chr2_178107437_178134656 | 178117899 | CATATTTG others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01123.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0037 | 6 | 364 | 0.0165 | -27 | c.424 others(42): Show |
RBM45 | ENSG00000155636.16 | transcript | ENST00000286070.10 | protein_coding | 2/9 | chr2 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40423681 | TTTCTTTC others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02622.hp1 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0009a0002c0015 | a0001c0001t0008a0002c0009t0008a0002c0015t0008 | a0001c0001t0008g0139a0001c0001t0008g0145a0002c0009t0008g0043others(3): Show | 6 | 278 | 0.0216 | -27 | c.*21 others(38): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 7/7 | 2196 | chr4 | TogoVar | |||||
RBM47_chr4_40418280_40634864 | 40592957 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0222 | 1 | 278 | 0.0036 | -27 | c.-24 others(48): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBM47_chr4_40418280_40634864 | 40592965 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA18957.hp1 NA18957.hp2 |
a0002 | a0002c0002 | a0002c0002t0036a0002c0002t0128 | a0002c0002t0036g0209a0002c0002t0128g0237 | 2 | 278 | 0.0072 | -27 | c.-24 others(48): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RBM48_chr7_92523795_92545481 | 92540926 | ATGGGTAT others(20): Show |
A | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 396 | 0.0025 | -27 | c.*39 others(38): Show |
RBM48 | ENSG00000127993.16 | transcript | ENST00000265732.10 | protein_coding | 446 | chr7 | TogoVar | ||||||
RBMS1_chr2_160267151_160498807 | 160493545 | CTCCTCCT others(20): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0326 | 1 | 328 | 0.0031 | -27 | c.-20 others(36): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/14 | 183 | chr2 | TogoVar | |||||
RBMS2_chr12_56516820_56601193 | 56597573 | CACACACA others(20): Show |
C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02895.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0035a0001c0002t0010a0001c0002t0083 | a0001c0001t0035g0098a0001c0002t0010g0123a0001c0002t0083g0104 | 3 | 280 | 0.0107 | -27 | c.*84 others(38): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1381 | chr12 | TogoVar | ||||||
RBMS2_chr12_56516820_56601193 | 56597610 | CACACACA others(20): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0011a0001c0001t0020others(2): Show | a0001c0001t0010g0225a0001c0001t0010g0227a0001c0001t0011g0201others(3): Show | 6 | 280 | 0.0214 | -27 | c.*84 others(38): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1418 | chr12 | TogoVar | ||||||
RBMXL3_chrX_115184410_115197868 | 115191128 | CACAGTGG others(20): Show |
C | conservative_inframe_deletion | MODERATE | HG02738.hp1 | a0044 | a0044c0052 | a0044c0052t0001 | a0044c0052t0001g0000 | 1 | 314 | 0.0032 | -27 | c.169 others(36): Show |
p.Cys others(13): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 1/1 | 1731/3459 | 1699/3204 | 567/1067 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
RBSN_chr3_15065073_15104148 | 15078772 | AAAAATAC others(20): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00639.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0010a0002c0002t0027 | a0002c0002t0004g0003a0002c0002t0004g0026a0002c0002t0004g0236others(8): Show | 15 | 360 | 0.0417 | -27 | c.912 others(42): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | ||||||
RBSN_chr3_15065073_15104148 | 15078776 | ATACATAT others(20): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0036 | 1 | 360 | 0.0028 | -27 | c.912 others(42): Show |
RBSN | ENSG00000131381.12 | transcript | ENST00000253699.7 | protein_coding | 10/13 | chr3 | TogoVar | ||||||
RCBTB1_chr13_49526946_49590558 | 49590194 | CTACTTGG others(20): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0005 | a0002c0005t0015 | a0002c0005t0015g0280 | 1 | 418 | 0.0024 | -27 | c.-48 others(38): Show |
RCBTB1 | ENSG00000136144.12 | transcript | ENST00000378302.7 | protein_coding | 4637 | chr13 | TogoVar | ||||||
RCBTB2_chr13_48483963_48538080 | 48493315 | ACTCTCTC others(20): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0301 | 1 | 320 | 0.0031 | -27 | c.151 others(46): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar |